P G D Preimplantation Diagnosis Ethical Questions

PREIMPLANTATION DIAGNOSIS
ETHICAL QUESTIONS
SOMMAIRE
I General Observations
A. The Planned Destruction of Human Embryos in PGD....................................................................5
B. The Eugenics at Works in PGD.......................................................................................................8
II The Various Application of PGD
A. PGD fot Monogenic Disorders or Chromosomal Disorders............................................................9
B. The Extension of PGD to Other Genetic Factors...........................................................................13
C. PGD for Aneuploidy Research PGD-AS ......................................................................................16
D. PGD HLA Selection .....................................................................................................................17
E. PGD for the ‘Social’ Selection of Sex............................................................................................19
Conclusion......................................................................................................................................................21
Document transmis
par
Mgr J. Suaudeau
Pontificia Academia Pro Vita
le 7. I. 2009
On consultera le dossier spécifique

http://www.genethique.org/doss_theme/dossiers/dpi/acc_dpi.htm
Du site de référence
http://www.genethique.org/
1
2
Preimplantation diagnosis, particularly known as preimplantation genetic diagnosis (PGD)1 is
an initial form of prenatal diagnosis connected with artificial fertilization techniques (IVF-ET), in
which the embryos that have been formed in vitro are analyzed to discover specific genetic or
chromosomal defects. Only those embryos that are free from such defects are subsequently transferred
into the uterus.
Differently from prenatal diagnosis, where the diagnostic step is very distinct from the step of
elimination and where couples continue to be free to decide to welcome the unborn child that has been
discovered to be defective, preimplantation diagnosis involves in the same action diagnosis and the
elimination of an embryo that is suspected of having genetic or chromosomal defects or of belonging
to an unwanted HLA type (in case one looks after a potential donor of bone marrow that would be
immuno compatible with a subject already born and in needs of such a bone marrow transfer). This
elimination depends entirely on the decision of the operator and is completely beyond the decision of
the ‘parents’. For this reason, although prenatal diagnosis is above all a diagnostic operation that is in
itself ethically neutral, preimplantation diagnosis is above all a technique that involves early abortion
and raises grave ethical questions.
Preimplantation genetic diagnosis was introduced in the early 1990s as an alternative to

prenatal diagnosis so as not to be forced to end a pregnancy in a couple affected by a sex-linked genetic
disease. According to the authors involved, this selection technique would make possible the transfer
into the uterus of healthy embryos alone and would avoid recourse to abortion after diagnosis during
more advanced stages of the pregnancy. Indeed, this possibility became the principal reason for the
extension of techniques of artificial fertilization to couples subject to the risk of children with genetic
diseases as well. The first experimentations with this genetic diagnosis beginning with blastomeres
isolated from preimplantation embryos were published in 1987-19892, and the application of this
technique to human embryos, for the diagnosis of diseases linked to chromosome X was published in
19903.
The first application of PGD was to carriers of an X-linked disease who ran the one in four risk
of having a child afflicted with such a disease. Chromosome Y sequences were amplified through
polymerase chain reaction (PCR) in order to distinguish the male embryos from the female ones 4 – and
1
There are other types of preimplantation diagnosis already in use (for example morphological) or in experimentation
(metabolical), but the genetic one is the earlier, and the most common.
J.C.Harper, D.Wells, Recent Advances and Future Developments in PGD, Prenatal Diagnosis, December 1999, vol.19, n°13,
pp. 1193-1199.
K.Sermon, Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view, Human Reproduction
Update, January/February 2002, vol.8, n°1, pp.11-20.
S.Munné, D.Wells, Preimplantation genetic diagnosis, Current Opinion in Obstetrics and Gynecology, June 2002, vol.14, n°4,
pp.239-244.
K.Sermon, A.Van Steirteghem, I.Liebaers, Preimplantation genetic diagnosis, The lancet, 15 May 2004, vol.363, n°9421,
pp.1633-1641.
D.Wells, Advances in preimplantation genetic diagnosis, European Journal of Obstetrics and Gynecology and Reproductive
Biology, 1 July 2004, vol.115, supl.1, pp.S97-S101.
2
M.Monk, A.Handyside, K.Hardy, D.Whittingham, Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl
transferase in a mouse model for Lesch-Nyhan syndrome, The Lancet, 22 August 1987, vol.2, n°8556, pp.423-425.
A.H.Handyside, J.K.Pattinson, R.J.Penketh, J.D.Delhanty, R.M.Winston, E.G.Tuddenham, Biopsy of human preimplantation
embryos and sexing by DNA amplification, The Lancet, 18 February 1989, vol.1, n°8634, pp.347-349.
C.Coutelle, C.Williams, A.Handyside, K.Hardy, R.Winston, R.Williamson, Genetic analysis of DNA from single human
oocytes: a model for preimplantation diagnosis of cystic fibrosis, British Medical Journal, 1 July 1989, vol.299, n°6690, pp.22-24.
R.J.Penketh, J.D.A.Delhanty, A.van den Berghe, E.M.Finklestone, A.H.Handyside,
S.Malcolm, R.M.L.Winston, Rapid sexing of human embryos by non-radioactive in situ hybridization:
potential for preimplantation diagnosis of X-linked disorders, Prenatal Diagnosis, July 1989, vol.9, n°7, pp.489-499.
3
A.H.Handyside, E.H.Kontogianni, K.Hardy, R.M.Winston, Pregnancies from biopsied human preimplantation embryos sexed
by Y-specific DNA amplification, Nature, 19 April 1990, vol.344, n°6268, pp.768-770.
4
C.M.Strom, S.Rechitsky, Y.Verlinsky, Reliability of Gender Determination Using the Polymerase Chain Reaction (PCR) for
Single Cells, Journal of In Vitro Fertilization and Embryo Transfer, August 1991, vol.8, n°4, pp.225-229.
3
the female embryos alone were then transferred. After this, PCR was used and refined for the diagnosis
of various more common monogenetic diseases 5. New technologies were then subsequently added to
the ‘arsenal’ used by preimplantation diagnosis. In the early 1990s the technique known as
fluorescence in-situ hybridisation (FISH) was developed. This technique allows a definition of the
numerical and structural anomalies of the individual chromosome within a cell. This method was used
with success in ascertaining the sex of preimplantation embryos, and thus this technique of diagnosis
soon appeared as a better alternative for such exploration 6. The availability on the market of probes
with various fluorochromes provided operators with an opportunity to use FISH to search for
aneuploidy (an abnormal number of chromosomes)(PGD for aneuploidy screening)7 and to look for
imbalanced forms of chromosomal aberration (amongst which reciprocal chromosomal translocation,
that is to say the exchange of two terminal segments between different chromosomes, which, indeed, is
the commonest form of this phenomenon)8.
5
N.Y.Varawal la, A.Dokras, J.M.Old, I.L.Sargent, D.H.Barlow, An approach to preimplantation diagnosis of beta-
thalassemia, Prenatal Diagnosis, October 1991, vol.11, n°10, pp.775-785.
A.H.Handyside, J.G.Lesko, J.J.Tarín, R.M.L.Winston, M.R.Hughes, Birth of a normal girl after in vitro fertilization and
preimplantation diagnostic testing for cystic fibrosis, The New England Journal of Medicine, 24 September 1992, vol.327, n°13, pp.905-
909.
ESHRE PGD Consortioum Steering Committee, ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary
assessment of data from January 1997 to September 1998, Human Reproduction, December 1999, vol.14, n°12, pp.3138-3148.
ESHRE PGD Consortium Steering Committee, ESHRE Preimplantation Genetic Diagnosis consortium: data collection III
(May 2001), Human Reproduction , January 2002, vol.17, n°1, pp.233-246. See pp.237-238.
6
S.Munné, Y.X.Tang, J.Grifo, Z.Rosenwaks, J.Cohen, Sex determination of human embryos using the polymerase chain
reaction and confirmation by fluorescence in situ hybridization, Fertility and Sterility, January 1994, vol.61, n°1, pp.111-117.
D.K.Griffin, A.H.Handyside, J.C.Harper, L.J.Wilton, G.Atkinson, I.Soussis, D.Wells, E.Kontogianni, J.Tarin, S.Geber, et al.,
Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization, Journal of Assisted Reproduction and
Genetics, March 1994, vol.11, n°3, pp.132-143.
J.C.Harper, E.Coonen, F.C.Ramaekers, J.D.Delhanty, A.H.Handyside, R.M.Winston, A.H.Hopman, Identification of the sex of
human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridization (FISH) using
directly labelled probes, Human Reproduction, April 1994, vol.9, n°4, pp.721-724.
7
S.Munné, A.Lee, Z.Rosenwaks, J.Grifo, J.Cohen, Diagnosis of major chromosome aneuploidies in human preimplantation
embryos, Human Reproduction, December 1993, vol.8, n°12, pp.2185-2191.
B.M.Schurs, R.M.Winston, A.H.Handyside, Preimplantation diagnosis of aneuploidy using fluorescent in-situ hybridization:
evaluation using a chromosome 18-specific probe, Human Reproduction, February 1993, vol.8, n°2, p.296-301.
J.D.Delhanty, D.K.Griffin, A.H.Handyside, J.Harper, G.H.Atkinson, M.H.Pieters, R.M.Winston, Detection of aneuploidy and
chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation (FISH),
Human Molecular Genetics, August 1993, vol.2, n°8, pp.1183-1185.
Y.Sasabe, K.P.Katayama, T.Nishimura, A.Takahashi, H.Asakura, K.Winchester-Peden, L.Wise, Y.Abe, H.Kubo, S.Hirakawa,
Preimplantation Diagnosis by Fluorescence In Situ Hybridization Using 13-, 16-, 18-, 21-, 22-, X-, and Y-Chromosome Probes, Journal
of Assisted Reproduction and Genetics, February 1999, vol.16, n°2, pp.92-96.
S.Munné, C.Magli, J.Cohen, P.Morton, S.Sadowy, L.Gianaroli, M.Tucker, C.Marquez, D.Sable, A.P.Ferraretti, J.B.Massey,
R.Scott, Positive outcome after preimplantation diagnosis of aneuploidy in human embryos, Human Reproduction, September 1999,
vol.14, n°9, pp.2191-2199.
L.Gianaroli, M.C.Magli, A.P.Ferraretti, S.Munné, Preimplantation diagnosis for aneuploidies in patients undergoing in vitro
fertilization with a poor prognosis: identification of the categories for which it should be proposed, Fertility and Sterility, November
1999, vol.72, n°5, pp.837-844.
L.Wilton, Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review, Prenatal Diagnosis,
June 2002, vol.22, n°6, pp.512-518.
8
J.C.Harper, J.D.Delhanty, Detection of chromosomal abnormalities in human preimplantation embryos using FISH, Journal of
Assisted Reproduction and Genetics, February 1996, vol.13, n°2, pp.137-139.
C.M.Conn, J.C.Harper, R.M.Winston, J.D.Delhanty, Infertile couples with Robertsonian translocations: preimplantation
genetic analysis of embryos reveals chaotic cleavage divisions, Human Genetics, January 1998, vol.102, n°1, pp.117-123.
E.Van Assche, C.Staessen, W.Vegetti, M.Bonduelle, M.Vandervorst, A.Van Steirteghem, I.Liebaers, Preimplantation genetic
diagnosis and sperm analysis by fluorescence in situ hybridization for the most common reciprocal translocation t(11;22) , Molecular
Human Reproduction, July 1999, vol.5, n°7, pp.682-690.
S.Munné, M.Sandalinas, T.Escudero, J.Fung, L.Gianaroli, J.Cohen, Outcome of preimplantation genetic diagnosis of
translocations, Fertility and Sterility, June 2000, vol.73, n°6, pp.1209-1218.
A.Tanaka, M.Nagayoshi, S.Awata, Y.Mawatari, I.Tanaka, H.Kusunoki, Preimplantation diagnosis of repeated miscarriage due
to chromosomal translocations using metaphase chromosomes of a blastomere biopsied from 4- to 6-cell-stage embryos, Fertility and
Sterility, January 2004, vol.81, n°1, pp.30-34.
4
I
GENERAL OBSERVATIONS
The employment of PGD, from the outset, raised grave ethical questions connected with its
very purpose and rational9. Two projects, both of which are equally questionable, emerge in the PGD
approach: the first involves the planned destruction of human embryos; the second involves the
eugenic purpose that animates and underlies PGD.
A. The Planned Destruction of Human Embryos in PGD
Medical doctors who practice PGD defend this practice at an ethical level with the argument
that human embryos before implantation should not be seen as real human beings but rather as a
developing cellular formation from which the properly called embryo will emerge after the
implantation, from the inner cell mass of the blastocyst. For these medical doctors, the embryos
produced in vitro by artificial fertilization do not have a human character and would not even be
individuals. In their view, therefore, there would be a proportionality between the benefit that comes
from the application of PGD to couples who ask for its use because of grave reasons of health, on the
one hand, and the fact of thereby creating various embryos which are destined for the most part for
destruction, on the other. These medical doctors add that the high natural death rate of embryos means
that one should not be overly moved by the loss of a specific embryo because nature itself does not
have very much respect for the embryos that its produces. Nature, they observe, produces a large
number of embryos so that, in the end, there will be an healthy one able to implant successfully in the
mother’s womb. When one takes into account the good to mankind that can come from the selection of
a healthy embryo of high quality, they argue, we should not attach such an importance to these pre-
embryos and make a disproportionate fuss about them.
Faced with the negative judgement on the value of human embryos during the first stage of
development of the human individual, emphasis must be placed on what biology itself clearly points
out: the human embryo, from the stage of being a zygote onwards, demonstrates all the characteristics
of a new human individual that is developing its characteristics in a way that is totally autonomous.
First of all, one is dealing with an individual being because from the moment of its formation
through the union of the gametes in the process of fertilization, it is a biological entity endowed with
the capacity for autonomy, self-control and homeostasis, functioning as an organic unity, that is to say
as an organism10, which immediately proceeds in its development in a gradual, continual and
harmonious way according to the programme outlined in its genome 11. In this organism there is a
9
M.L.Di Pietro, A.Giuli, A.Serra, La Diagnosi Prenatale, Medicina e Morale, Maggio/Giugno 2004, vol.LIV, n°3, pp.469-
500.
10
The concept of organism clarifies the notions of indivisibility and separability associated with the idea of an individual. A
living being, in fact, exists in the form of an organism, that is to say that biological unity of structure, function and reproduction that
constitutes and characterizes this living being throughout its life. However, the organism of a living being is not something static: the
living being remains identical to itself because it constitutes itself and realizes itself continually, conserving the same form as a result
of the on-going replacement of the matter of which it is composed. L.M. Morfaux offers the following definition: ‘Individu
biologique: être vivant indivisible circonscrit dans l'espace, doué d'une unité intérieure et d'une solidarité fonctionnelle entre ses
parties constituantes (organisme), et jouissant d'une relative autonomie par rapport au milieu ambiant’.
L.-M. Morfaux, Vocabulaire de la philosophie et des sciences humaines, Armand Colin,Paris, 1980, p.167.
A.Serra, R.Colombo, Identità e statuto dell'embrione umano: il contributo della biologia, in «Identità e statuto
dell'embrione umano», Pontificia Academia Pro Vita, Librertia Editrice Vaticana, Città del Vaticano, 1998, pp.110-112.
11
A third important notion must be taken into consideration because it concerns the organism of living beings and its intrinsic
dynamism: the notion of ‘life cycle’. By this term is meant the ordered description of the morphological and functional variations that
are produced during its life by an organism in line with an intrinsic programme (that is to say not in an accidental way). The life cycle
5
constant ‘teleological’ integration and cooperation of all its cells. Thus to consider this organism as a
mere ‘mass of cells’ is to deliberately ignore this biological reality12.
Secondly, this individual being is human and is animated by a human life. If it is not human,
then what is it? To what category does it belong? Does it have a human genome but at the same time is
not human?
For this reason, the preimplantation embryo, during its stage of segmentation, must be fully
respected, not only because it will become an adult person if no obstacles are placed in the way of its
development, but also because of its specific value, which is beyond the value of any physical human
cell. A human embryo, recognised as such by reason as a human individual, has a ‘dignity’ and thus
requires respect. This dignity is not due to some external addition but comes from its very nature, in
which is contained, as a project, the future adult with all his or her physical and mental properties and
with the biological foundation of his or her personality.
In preimplantation genetic diagnosis the preimplantation embryo is denied its value as a human
individual and this embryo is treated as mere laboratory material, at the same level as physical cells.
But nobody doubts the fact that these eliminated embryos, if they had been able to overcome the
technical obstacles in their way, and if they had been implanted in the womb, would have become
human beings.
One has the right to ask, in relation to an embryo in the first days of its life and thus still at the
stage of segmentation: what is this ‘early embryo’ if the status of being a human individual of this
young embryo is called into question?
But there is a prior question that is very relevant for ethics: what is it not? In other words: can
we be certain that the embryo that is produced is not a human individual? On what biological
foundation is the value of this embryo based? For moralists, the mere admission of the probability that
we are dealing with a human being is totally significant. Who encounters a shadow, and does not know
whether it is an animal or a man, if he fires a shot, and thus kills a man, is clearly guilty of murder.
Before firing there is a strict moral duty to ascertain that the shadow is not that of a man. This ethical
principle is perfectly transgressed in the case of PGD.
Whatever the good sought for through PGD that is used to justify its employment, such a
justification is not ethically valid.
1) In this field there is no longer the excuse made within the context of ART by which the
planned loss of human embryos after artificial implantation is justified by the fact that some of the
embryos produced through natural fertilization are eliminated by nature herself. In PGD, the
elimination of embryos is directly intended and is not left to a casual ‘natural process’ that might,
perhaps, be said to reduce the responsibility involved.
2) PGD cannot be seen as a lesser evil because there is no situation of constraint that obliges its
practice in the context of the threat of a greater evil. Indeed, PGD does not provide help or clarification
is the real form of the existence of an organism. It would thus be erroneous to see the organism of a living as starting with the
characteristics of the adult form of that organism. This is very clear when one is dealing, for example, with insects, but it is also true
in the case of the organisms of mammals, from conception until natural death. The organism that is found at the beginning of the life
cycle makes up the basis of the unity of every living being for the whole of its life and thus it cannot be arbitrarily excluded from the
framework of the existence of that being.
A.Serra, R.Colombo, Identità e statuto dell'embrione umano: il contributo della biologia, in «Identità e statuto
dell'embrione umano», Pontificia Academia Pro Vita, Libreria Editrice Vaticana, Città del Vaticano, 1998, pp.110-112. See pp.112-
114.
12
As I. Wilmut and H. Griffin of the Roslin Institute, Edinburgh, where the famous sheep ‘Dolly’ was ‘created’, observed:
‘when an embryo is created, it is put onto auto-pilot during its initial development’ (BBC News del 25 Novembre 2001). However, a
group of cells is not put on ‘auto-pilot’. It must be directed from outside because it does not possess autonomy. Instead, an embryo,
from the moment of emerging from fertilization is an entity endowed with autonomy that immediately proceeds to engage in its own
development in a gradual, continual and harmonious way that requires the constant integration and cooperation of all its cells. One is
not dealing here with a ‘mass’ of cells that does not have autonomy or organic development. This is an organism that proceeds
without interruption according to the directive plan contained in its genome. It thus becomes, without any external intervention, a
morula, a blastocyst, an implanted embryo, a foetus, a baby, an adolescent, and an adult, before finally reaching its natural death.
6
in a situation that already exists, which could have consequences deemed disastrous, as in the case of
prenatal diagnosis. PGD does the opposite: it creates a problematic situation through the production of
embryos that could be affected by various disorders. The evil that could be considered greater is the
birth of a child affected by a malformation, but this is a possibility connected with the desire to
procreate, which in this case is neither an obligation nor a right.
3) PGD cannot be justified on the basis of the principle of the double effect. The justification
that argues that there is no direct wish to destroy or eliminate embryos created in vitro by artificial
fertilization but that such destruction/elimination takes place indirectly as the result of the positive
procedure that allows an infertile couple to welcome a child of their own is not acceptable. In
preimplantation genetic diagnosis the selective elimination of the embryos produced by artificial
fertilization is the base, the rationale, and the purpose of the operation. It is directly willed and, indeed,
sought after.
The Magisterium of the Church has already pronounced on this whole area. Because every
human embryo is a human being, animated by a personal human life13, it must be seen and treated as a
human person (Congregation for the Doctrine of the Faith, Instruction Donum vitae, I, 1)14; with its
eminent dignity the unborn child is a subject of rights from the first moment of conception, first and
foremost to the right to life, which cannot be denied to it in any way.
Preimplantation genetic diagnosis involves the direct and voluntary elimination of human
beings (John Paul II, Encyclical Evangelium Vitae, nn. 58, 62)15, and thus it is not ethically permissible.
This is a truth applicable to everyone, whether they are believers or non-believers, and can be
recognized by natural reason (John Paul II, Encyclical Evangelium vitae, nn. 2, 57, 62)16.
13
Congregation for the Doctrine of the Faith, ‘Dichiarazione sull'aborto procurato’, 18 Nov. 1974, nn. 12-13: AAS 66 (1974),
p. 738: ‘from the time that the ovum is fertilized, a new life is begun which is neither that of the father nor of the mother; it is rather
the life of a new human being with his own growth. It would never be made human if it were not human already...Right from
fertilization is begun the adventure of a human life’.
14
‘Thus the fruit of human generation, from the first moment of its existence, that is to say from the moment the zygote has
formed, demands the unconditional respect that is morally due to the human being in his bodily and spiritual totality. The human
being is to be respected and treated as a person from the moment of conception; and therefore from that same moment his rights as a
person must be recognized, among which in the first place is the inviolable right of every innocent being to life’: Congregation for
the Doctrine of the Faith, ‘Instruction on Respect for Human Life in its Origin and on the Dignity of Procreation. Replies to Certain
Questions of the Day’, 22 February 1987, I, 1, AAS, 1988, 80, 79.
15
Cf. John Paul II in Evangelium Vitae, n. 58: ‘procured abortion is the deliberate and direct killing, by whatever means it is
carried out, of a human being in the initial phase of his or her existence, extending from conception to birth’ and in Evangelium vitae
n. 62: ‘Therefore, by the authority which Christ conferred upon Peter and his Successors, in communion with the Bishops – who on
various occasions have condemned abortion and who in the aforementioned consultation, albeit dispersed throughout the world, have
shown unanimous agreement concerning this doctrine – I declare that direct abortion, that is abortion willed as an end or as a means,
always constitutes a grave moral disorder, since it is the deliberate killing of an innocent human being. This doctrine is based upon
the natural law and upon the written Word of God, is transmitted by the Church’s Tradition and taught by the ordinary and universal
Magisterium’.
16
John Paul II in Evangelium Vitae, n. 2: ‘Even in the midst of difficulties and uncertainties, every person sincerely open to
truth and goodness can, by the light of reason and the hidden action of grace, come to recognize in the natural law written in the heart
(cf. Rom 2:14-15) the sacred value of human life from its very beginning until its end, and can affirm the right of every human being
to have this primary good respected to the highest degree’, and in Evangelium vitae n .57: ‘Therefore, by the authority which Christ
conferred upon Peter and his Successors, and in communion with the Bishops of the Catholic Church, I confirm that the direct and
voluntary killing of an innocent being is always gravely immoral. This doctrine, based upon that unwritten law which man, in the
light of reason, finds in his own heart (cf. Rom 2:14-15) is reaffirmed by Sacred Scripture, transmitted by the Tradition of the Church
and taught by the ordinary and universal Magisterium.’
7
B. The Eugenics at Works in PGD
The second negative aspect of PGD comes from its typically ‘eugenic’ character, which,
indeed, governs its conceptual starting point. This is eugenics of a negative character characterized by
the idea of preventing or limiting the spread of hereditary diseases through the elimination of people
who suffer from them. In PGD there is the illicit fundamental feature of all eugenics in which the value
of human life is measured and selected solely according to the parameters of ‘normality’ and physical
well-being (John Paul II, Encyclical Evangelium vitae, n. 63)17 and with reference to the materialistic
concept of ‘quality of life’. Positive eugenics, that is to say the wish to give all unborn children the
greatest possible opportunity of good health in their future lives through the elimination of unfavorable
genetic conditions is not discriminatory but forms a part of the natural horizon of preventive medicine.
Negative eugenics, in opposite fashion, which PGD embodies, in which an attempt is made to
eliminate human beings that do not conform to certain biological criteria, is always fundamentally
unjust and unacceptable.
Considering PGD with reference to its rationale, one must, from an ethical point of view,
emphasize again the basic ethical principle according to which one cannot commit a wrong in order to
achieve a good. In the case of PGD the wrong is to be found in its principle, in its rationale, that is to
say in the idea of bringing into existence only people deemed valid (for example people free of every
hereditary genetic disease) through the elimination of embryos that are found to be abnormal when
they are analyzed. The voluntary elimination of human lives, even if at the first stage of their biological
development, in order to select an individual endowed with specific characteristics, and to allow only
such an individual to grow, is gravely illicit and unacceptable.
Beyond such basic illicitness, which is shared by all the varieties of PGD in its various
applications, preimplantation diagnosis raises different kinds of more specific problems, according to
its purpose and use, and within the prospect of the ‘extension’ of its application to aims that are
increasingly less medical and more ‘social’. For this reason, ethical reflection on PGD is directed in
particular around three prevalent trajectories of thought: preimplantation diagnosis as a form of
‘abortion prevention’ (PGD as a search for genetic or chromosomal defects); preimplantation diagnosis
as a search for genetic factors involving a predisposition to diseases that arrive late in life (late-onset
conditions); preimplantation diagnosis for the HLA selection of stem cell donors; and preimplantation
diagnosis for the purposes of the selection of sex. All this elements should be analyzed if we want to
engage in a more specific ethical survey.
17
‘it not infrequently happens that these techniques are used with a eugenic intention which accepts selective abortion in
order to prevent the birth of children affected by various types of anomalies. Such an attitude is shameful and utterly reprehensible,
since it presumes to measure the value of a human life only within the parameters of “normality” and physical well-being, thus
opening the way to legitimizing infanticide and euthanasia as well’: John Paul II Evangelium vitae, n. 63.
8
II
THE VARIOUS APPLICATION OF PGD
A. PGD fot Monogenic Disorders or Chromosomal Disorders
1) The indications
PCR was the first technique to be developed for the analysis of DNA with single cells. It is not,
therefore, surprising that the first genetic anomalies to be identified in embryos were single gene
diseases. Indeed, preimplantation genetic diagnosis to search for monogenic disorders (PGD for single
gene disorders)(PGD-SG) was emblematic of PGD until recent years18.
Disorders linked to Chromosome X
The search for genetic disorders linked to chromosome X was the first aim of PGD at the
19
outset , and continues to be one of its most favored purposes. There are more than four hundred
genetic disorders linked to chromosome X in man (X-linked diseases) 20. Most of these are recessive,
and one half of the male children of mothers who are carriers of a defect have a 50% possibility of
being affected. Some of these diseases, such as Duchenne muscular dystrophy and hypoxanthine-
guanine phosphoribosyl-transferase (HPRT) deficiency, were the first diseases for which PGD was
established in the form of the identification of sex. Other diseases severely connected with
chromosome X that are looked for with PGD are Wiscott-Aldrich’s disease and ornithine
transcarbamylase deficiency21. In this approach the sex of the embryo is ascertained by employing a
simple technique and all the male embryos are eliminated. The negative side of this approach is that
half of the male embryos eliminated in this way are normal and half of the female embryos that are
transferred are carriers of this condition. For this reason, today it is increasingly the case that the
specific genetic defect of X-linked genetic diseases that was previously identified is now not
specifically searched for using PGD. Most of the papers in the field on the use of PGD for X-linked
diseases describe the results of the methods of PGD that have been developed for the more frequent X-
linked diseases, such as Duchenne muscular dystrophy and fragile X syndrome (for which PGD
through the ascertaining of sex is not effective because the females can also be affected). The Lesch-
Nyhan syndrome, a severe disorder linked to chromosome X and caused by a hypoxanthine-guanine
phosophribosyl-transferase deficiency, initially proposed as the object of PGD through the ascertaining
of sex, is today still subject to a specific PGD that is suggested to affected couples. Its first positive
result was published in 1999. Similarly, a specific PGD for the severe disorder of ornithine
tranascarbamylase deficiency has also been developed recently.
18
J.C.Harper, D.Wells, W.Piyamongkol, P.Abou-Sleiman, A.Apessos, A.Ioulianos, M.Davis, A.Doshi, P.Serhal, M.Ranieri,
C.Rodeck, J.D.Delhanty, Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders,
Prenatal Diagnosis, June 2002, vol. 22, n°6, pp.525-533.
19
M.Monk, A.Handyside, K.Hardy, D.Whittingham, Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl
transferase in a mouse model for Lesch-Nyhan syndrome, The Lancet, 22 August 1987, vol.2, n°8556, pp.423-425.
A.H.Handyside, E.H.Kontogianni, K.Hardy, R.M.Winston, Pregnancies from biopsied human preimplantation embryos
sexed by Y-specific DNA amplification, Nature, 19 April 1990, vol.344, n°6268, pp.768-770.
S.S.Chong, K.Kristjansson, J.Cota, A.H.Handyside, M.R.Hughes, Preimplantation prevention of X-linked disease: reliable
and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences,
Human Molecular Genetics, August 1993, vol.2, n°8, pp.1187-1191.
20
V.A.McKusick, Mendelian Inheritance in Man. A Catalogue of Human Genes and Genetic Disorders, 12th edition, 1998,
The John Hopkins University Press, Baltimore.
21
C.Hanson, L.Hamberger, Clinical aspects on the use of preimplantation genetic diagnosis in couples at risk, Acta Obstetrica
Scandinavica, 1997, vol.164, supplement, pp.19-21.
9
Single gene autosomal diseases
Autosomal and single gene diseases are the object of the one of the most important purposes of
22
PGD . The most frequent kind of PGD employed to look for a single gene defect is that connected
with cystic fibrosis because of its important prevalence and the fact that it is generally caused by the
same ΔF508 mutation23. Cystic fibrosis was the first single gene disease to be identified by PGD and
the first paper involving clinical PGD for cystic fibrosis was published in 1992 24. Hitherto, this has
been the genetic anomaly most searched for by PDG 25. Various methods of PGD have also been
described for certain recessive autosomal diseases with a high incidence in the population, for example
defects in the β globin gene, such as sickle-cell disease (in populations with African Sub-Saharan
origins) and β thalassemia (in mediterranean populations). Spinal muscular atrophy (SMA), a relatively
common recessive autosomal disease with an incidence of 1/6,000 to 1/10,0000, has also been the
object of attention within the framework of PGD.
PGD has also been suggested to couples in the case of dominant autosomal diseases such as
Steinert’s disease (myotonic dystrophy), Charcot-Marie Tooth’s disease, and Marfan’s syndrome,
which are less common than recessive autosomal diseases. But in their case there is a 50% risk of
transmission to children compared to a 25% risk in the case of recessive autosomal diseases.
The search for chromosomal anomalies
The second purpose of PGD relates to chromosomal anomalies (karyotype anomalies) 26. Such a
purpose has been of the same importance as the use of PGD for recessive autosomal defects 27.
Reciprocal chromosomal translocations, that is to say the exchange of two terminal segments by
different chromosomes, is the commonest form of chromosomal anomaly and thus the one most
indicated for PGD within the framework of chromosomal anomalies. Robertsonian translocations, that
is to say the centric fusion of two acrocentric chromosomes, are less frequent, and as a result figure less
22
M.Monk, Preimplantation Diagnosis of Genetic Disease, Annals of Medicine, October 1993, vol.25, n°5, pp.463-466.
W.Lissens, K.Sermon, C.Staessen, E.Van Assche, C.Janssenswillen, H.Joris, A.Van Steirteghem, I.Liebaers, Review:
Preimplantation diagnosis of inherited disease, Journal of Inherited Metabolic Diseases, 1996, vol.19, n°6, p.709-723.
J.C.Harper, Preimplantation Diagnosis of Inherited Disease by Embryo Biopsy: An Update of the World Figures, Journal of
Assisted Reproduction and Genetics, February 1996, vol.13, n°2, pp.90-95.
23
The incidence of cystic fibrosis of one for every 2,500 births. This is the commonest recessive autosomal disease in the
Caucasian populations. The ΔF508 mutation is responsible for 70-75% of all the mutations that cause this disease.
P.F.Ray, A.Ao, D.M.Taylor, R.M.I.Winston, A.H.Handyside, Assessment of the reliability of single blastomere analysis for
preimplantation diagnosis of the ΔF508 deletion causing cystic fibrosis in clinical practice, Prenatal Diagnosis, December 1998,
vol.18, n°13, pp.1402-1412. See p.1403.
24
Y.Verlinsky, S.Rechitsky, S.Evsikov, M.White, J.Cieslak, A.Lifchez, J.Valle, J.Moise, C.M.Strom, Preconception and
preimplantation diagnosis for cystic fibrosis, Prenatal Diagnosis, February 1992, vol.12, n°2, pp.103-110.
25
In 1999 the ESHRE PGD Consortium reported its statistics on the practice of PGD in the world. These statistics referred to
400 PGD cycles carried out in the world between January 1997 and September 1998. 51 of these cycles were carried out for the PGD
of cystic fibrosis. In 2000, V. Goossens et al. reported for their PGD center in Brussels, Belgium, the results of PGD procedures for
couples at risk of cystic fibrosis, which resulted in 13 pregnancies and 12 births of healthy children.
ESHRE PGD Consortium Steering Committee, ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium:
preliminary assessment of data from january 1997 to September 1998, Human Reproduction, December 1999, vol.14, n°12, pp.3138-
3148.
V.Goossens, K.Sermon, W.Lissens, M.Vandervorst, A.Vanderfaeillie, M.De Rijcke, A.De Vos, P.Henderix, H.Van de Velde,
A.Van Steirteghem, I.Liebaers, Clinical application of preimplantation genetic diagnosis for cystic fibrosis, Prenatal Diagnosis, July
2000, vol.20, n°7, pp.571-581.
26
S.Munné, Preimplantation genetic diagnosis of structural abnormalities, Molecular and Cellular Endocrinology, 22 October
2001, vol.22, n°183, Suppl 1, pp.S55-S58.
27
The third report of the ESHRE (2002) on PGD indicated that out of a total of 1,561 PGD cycles, 647 were carried out to
look for chromosome disorders, of which 331 concentrated on structural chromosomal aberrations. In comparison, 249 cycles were
carried out to search for an X-linked disease, 290 to look for a recessive autosomal disease, 254 to search for a dominant autosomal
disease, and 6 to look for a defect of mitochondrial origin.
ESHRE PGD Consortium Steering Committee, ESHRE Preimplantation Genetic Diagnosis Consortium: data collection III
(May 2001), Human Reproduction, January 2002, vol.17, n°1, pp.233-246. See table III e IV, p.235.
10
prominently in the suggested uses of PGD28. The healthy carriers of such translocations (as happens
when the translocation is balanced) have a normal phenotype. Balanced translocation is usually
diagnosed when a member of the family is infertile (especially when the husband is the carrier) or
when a propensity to repeated miscarriage is present. These healthy carriers run the risk of having
children affected by congenital anomalies or mental retardation following a non-balanced
translocation. FISH is the examination technique. The embryos that are the carriers of translocations
also have a high level of mosaicism29, although this fact raises fewer problems for the precision of
PGD than in other areas because the risk of implanting an abnormal embryo in this case is minimal.
2) Ethical Questions
Preimplantation genetic diagnosis to search for single gene disorders (PGD-SG) or

chromosomal disorders has found three arguments – which are apparently strong – in its favor:
- that of being an alternative to prenatal diagnosis and subsequent abortion;
-that of the abnormal character of the embryos to be eliminated, a character that could raise doubts
about the capacity for life and development of such embryos and their future;
-that of the ‘duty’ of the parents to assure the ‘well-being’ of the conceived child when there is a
possibility of working in that direction.
PGD followed by in vitro fertilization with embryo transfer (FIV-NET) or by an ICSI allows
the transfer into the womb of embryos that are not affected by a genetic disorder. For couples that run
the risk of transferring a genetic defect, such a procedure is an alternative to prenatal diagnosis and
associated therapeutic abortion. Preimplantation genetic diagnosis has thus been effectively proposed
from the outset as an alternative of this kind30 in particular for those parents who do not accept the idea
of ending a pregnancy voluntarily31. One could say at an anthropological level that the difference
28
A reciprocal chromosomal translocation is present in 1 in every live births, whereas a Robertsonian translocation (P.N.
Scriven et al., 20001) takes place in 1 in every 1,000 individuals. The third report of the ESHRE (2002) on PGD indicates 252 PGDs
for translocation of this kind as against 62 PGDs for Robertsonian translocation, out of a total of 1,561 cycles of PGD.
P.N.Scriven, F.A.Flinter, P.R.Braude, C.M.Ogilvie, Robertsonian translocations - reproductive risks and indications for
preimplantation genetic diagnosis, Human reproduction, vol.16, n°11, pp.2267-2273.
(May 2001), Human Reproduction, January 2002, vol.17, n°1, pp.233-246. See table V, p.235.
29
E.Iwarsson, H.Malmgren, J.Inzunza, L.Ährlund-Richter, P.Sjöblom, B.Rosenlund, M.Fridström, O.Hovatta,
M.Nordenskjöld, E.Blennow, Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers, Prenatal
Diagnosis, December 2000, vol.20, n°13, pp.1038-1047.
30
The presentation of PGD as an ‘alternative’ to prenatal diagnosis and the voluntary interruption of pregnancy that may be
requested subsequently is often to be found in the more or less official documents on PGD. For example, F.A. Flinter, a member of
the Human Genetics Commission (UK), describes PGD in the following way in the British Medical Journal (2001): ‘Pregnant
women whose babies are at risk of having a genetic condition serious enough to warrant consideration of termination of pregnancy
may be offered prenatal diagnostic tests such as amniocentesis and chorionic villus biopsy. For some couples, however, such tests are
not acceptable, and preimplantation genetic diagnosis is an alternative’.
Preimplantation Diagnosis: An Alternative to Prenatal Diagnosis of Genetic and Chromosomal Disorders, Report of the
Eighth Annual Meeting of the International Working Group on Preimplantation Genetics, in association with the Ninth International
Conference on prenatal diagnosis and therapy, Los Angeles, June 7 1998, Journal of Assisted Reproduction and Genetics, April 1999,
vol.16, n°4, pp.161-164.
F.A.Flinter, Preimplantation genetic diagnosis, British Medical Journal, 28 April 2001, vol.322, n°, pp.1008-1009.
31
Most of the countries of the world have laws that prohibit or seek to place limitations on voluntary abortion but also allow a
pregnancy to be ended when the conceived child (embryo or foetus) is shown to be affected by a grave medical, hereditary or
acquired condition. This abortion, presented as ‘therapeutic’, is explicitly recognized as licit and legal in certain States of Australia
and in most countries in Europe. However, such a practice is not accepted without difficulty by people in general because it is well
known that a developing human life is killed and that in this way discrimination is practiced in relation to those who have an
infirmity, and in particular those who are suffering specifically from the infirmity for which an abortion is being considered. For this
reason, the proposal of preimplantation diagnosis appears to offer a valid alternative to the pathway that goes from prenatal diagnosis
to therapeutic abortion, given that, thanks to PGD, only embryos that are not affected and are healthy are implanted into the maternal
womb, thereby eliminating the threat of having to have recourse to therapeutic abortion
C.Cameron, R.Williamson, Is there an ethical difference between preimplantation genetic diagnosis and abortion?, Journal
11
between the elimination of an embryo before the implantation and the elimination of the same embryo
after the implantation, that is to say during the second or third month, is not substantial. But it remains
the case that in the general view, and more especially in the opinion of parents who request PGD, the
elimination of embryos raises less moral problems than the voluntary interruption of pregnancy32.
Indeed, the abortion of a foetus that is found to be the carrier of a grave genetic disorder after chorionic
villus sampling, at the tenth or fourteenth week of pregnancy, is perceived by parents as the voluntary
killing of a living human being in utero, a being that is already their child, to whom that have been able
to become emotionally attached. In contrary fashion, when the embryo is at the 6-8 cell stage in vitro,
this embryo has not yet acquired, from his/her parents the respect and emotional attachment associated
with implantation in the womb. This embryo is still the responsibility of the laboratory. The decisions
that must be made about this embryo do not involve the mother in a physical sense. For these parents
this is still a ‘possible’ life. For all these reasons, it is clear that for them PGD is much less traumatising
and less a vehicle of anxiety and remorse than prenatal diagnosis 33. However, although this argument
may have consequence at a psychological level, it does not have any value at an ethical level because
ethics is to do with truth and not with the psychology or emotions of an individual. The fact, for a
couple, to be carrier of a grave genetic defect that will be transmitted to its offspring if it has children is
certainly an heavy moral, psychological and emotional burden. The moral duty of this couple, in fact,
is not to have children and thereby stop the transmission of the defect for the good of future
generations. Choosing to have healthy children through PGD appears to be a good path of action. But
this is a good acquired through a clear and objective wrong: that of the envisaged and accepted
scientific destruction of a marked number of human embryos, of human lives.
Thus the argument in favor of PGD to the effect that it is an alternative to prenatal diagnosis
has its emotional force for the mother. But it is not valid at an ethical level because human life is an
absolute that is not subject to any hierarchy of values based upon race, the utility of a person, or his or
her intellectual level or stage of development.
However, one could attenuate this judgement by observing that many of the embryos are
eliminated and destroyed because they are the carriers of a grave genetic or chromosomal defect that
could hinder their development and not allow implantation. This is especially true in the case of PGD
designed to search for chromosomal aberrations. An embryo that has an abnormal morphology, a
chaotic karyotype, a diploidy or a polyploidy, or even a chaotic mosaicism, cannot develop well and
generally experiences an arrest in its development prior to implantation or cannot be implanted. In such
a case, given that the embryo does not have a future and cannot be seen as a potential unborn child, one
might wonder about its individual quality and ask whether its elimination might not be ethically
admissible. But in this case it appears that nature herself provides an answer in the form of a successful
or failed implantation. It does not appear to be the task of man to be a judge or executor in such a
matter.
Adopting a position opposed to that of a negative judgement on the selection of embryos

because of genetic or chromosomal defects, some want to present PGD as a moral duty: in their view,
it is a duty to employ PGD, and this applies not only to parents who are the carriers of genetic or
chromosomal defects that can be transmitted to their offspring but also to all parents because one
should try to bring into this world only children that are considered to be better, equipped with a
genetic profile that is most favorable to a better life 34. In addition to the fact that such an approach is
of Medical Ethics, April 2003, vol.29, n°2, pp.90-92.

32
M.G.Katz, L.Fitzgerald, A.Bankier, J.Savulescu, D.S.Cram, Issues and concerns of couples presenting for preimplantation
genetic diagnosis (PGD), Prenatal Diagnosis, December 2002, vol.22, n°12, pp.1117-1122.
33
C.Cameron, R.Williamson, Is there an ethical difference between preimplantation genetic diagnosis and abortion?, Journal
34
This proposal is made in the following terms: ‘Eugenic selection of embryos is now possible by employing in vitro
fertilization (IVF) and preimplantation genetic diagnosis (PGD). While PGD is currently being employed for the purposes of
12
completely utopian and does not take into account the state of contemporary genetic medicine and its
advances, this proposal emerges from the severest negative eugenic thinking and must be rigorously
rejected. The supporters of such a thesis fall into the same error as those that wanted to sterilize a part
of the population: they seek to be able to make a judgement about the value of human life and so begin
with a mistaken biological basis that does not take into account the inter-relationship, which is better
known about today, between the genome, epigenetics and the environment (that is to say culture,
upbringing, and life conditions). The worst aspect of this position is that it decrees that a certain
number of human existences are without value and reduces the ‘quality of life’ to mere ‘physical well-
being’. We are dealing with the same authors who wanted to proclaim the ‘right not to be born’ 35
following the famous ‘Perruche’ case.
B. The Extension of PGD to Other Genetic Factors
The extension of preimplantation genetic diagnosis for new, genetic, non-genetic or even non-
pathological purposes, raises new ethical questions. This recent development in the purposes suggested
for PGD has not failed to raise social, anthropological and ethical problems 36. This extension can
involve the diagnosis of a single gene defect that leads to the late appearance of a disease (Huntington’s
disease), the diagnosis of a genetic condition (genetic profile) that favors the appearance of a complex
disease (for example Parkinson’s disease or Alzheimer’s disease), or the diagnosis of genetic risk
factors as regards a specific kind of cancer (BRCA1, BRCA2 for breast cancer). Such a proposal has
raised and continues to raise objections because it extends PGD beyond its original framework
involving the prevention of the hereditary transmission of grave genetic or chromosomal diseases to a
fan of possibilities with, in the background, the prospect, which is still utopian but which some people
want to introduce in the future, of the ‘perfect baby’, a baby selected from parents thanks to the
employment of PGD. The practice of PGD was accepted in the name of the good of families affected
generation after generation by one of those terrible genetic diseases that cause the early deaths of
children with the accompanying suffering of these children and their parents. Today, we are faced with
the almost natural development of a dynamic practice, the fruit of human ingenuity and inventiveness,
which has already been adopted with enthusiasm by the general public. We may ask how and in what
circumstances this process can be stopped and controlled37. For those at the outset who applied a
detecting chromosomal abnormalities or inherited genetic abnormalities, it could in principle be used to test any genetic trait such as
hair color or eye color...I will defend a principle which I call Procreative Beneficence: couples (or single reproducers) should select
the child, of the possible children they could have, who is expected to have the best life, or at least as good a life as the others, based
on the relevant, available information’
J.Savulescu, Procreative beneficence: why we should select the best children, Bioethics, October 2001, vol.15, n°5/6,
pp.413-426.
35
M.Spriggs, J.Savulescu, The Perruche judgment and the "right not to be born", Journal of Medical Ethics, April 2002,
vol.28, n°2, pp.63-64.
J.Savulescu, Is there a "right not to be born"? Reproductive decision making, options and the right to information, Journal
36
J.A.Robertson, Extending preimplantation genetic diagnosis: the ethical debate, Human Reproduction, March 2003, vol.18,
n°3, pp.465-471.
J.A.Robertson, Extending preimplantation genetic diagnosis: medical and non-medical uses, Journal of Medical Ethics,
August 2003. vol.29, n°4, pp.213-216.
R.Ashcroft, Back to the future: response to: Extending preimplantation genetic diagnosis: medical and non-medical uses,
Journal of Medical Ethics, August 2003, vol.29, n°4, pp.217-219.
37
As J.A. Robertson rightly observes, the concern about the extension of PGD arises when one sees a human embryo as an
organism that is too rudimentary in its development to be considered as a ‘person’, and thus the subject of rights and interests, but
also as a subject, because it is human and a potential new born child, that deserves specific respect. This position, arises, for example,
in the declarations or the opinions of the HFEA (UK), of the American Society of Reproductive Medicine (USA), or the Comité
Consultatif d'Ethique (France). These bodies have accepted the practice of PGD when it is ‘engaged in for good reasons’, namely to
prevent the development of a future child with a grave genetic disease and thus to prevent the abortion that the discovery of such a
13
negative judgement to PGD on ethical grounds (respect for the embryo, rejection of a discriminatory
judgement on the value of different human beings in the name of ‘quality of life’), the question raised
by the extensions of the purposes of PGD is not that of deciding if such extensions are illicit or
otherwise. They are illicit because PGD is illicit in itself. We are not dealing, therefore, with whether a
person has the right to practice PGD or to use its services – no such right exists. We are dealing with
discerning whether the authorization of such a practice involves the common good by opening the door
to manipulations of a very grave character against human beings and the dehumanization of the
populations involved.
The proposal to practice PGD in order to look for a hereditary genetic disease that appears late
in life, such as Huntington’s disease38, does not seem, a priori, to raise additional ethical problems.
This is because Huntington’s disease is a grave genetic affliction that cannot be treated through the
employment of neurological therapy. The case of PGD for Huntington’s disease could, therefore, be
seen as belonging to the framework of ‘classical’ PGD for autosomal diseases. However, there is a
major difference between the fact of parents being at great risk of having a child with a grave disease
of immediate impact, which cannot be treated, and the fact of a person being affected by a genetic
disease that appears late in life and which allows a long period of normal life, and which can be treated
and perhaps controlled to varying degrees by medical doctors as it evolves. The prevention of such a
disease is disproportionate to the human cost of the planned destruction of embryos through PGD. In
relation to such a choice, one should at least choose to practice biopsy on the polar bodies rather than
on the blastomeres.
A special case is the use of a PGD for a special form (of genetic origins) of Alzheimer’s
39
disease . To employ PGD in this case meant to help the mother (aged 31) to have a child when she
was threatened in the short term by Alzheimer’s disease and thus with the impossibility of taking care
of her child. Some people have criticized this example of PGD 40, not because of the destruction of
embryos was carried out because of a simple medical concern about a person, not because of the
disproportionate character of the PGD engaged in for a possible and late disease that was not
immediately fatal, but because of the possibility of an early inability of the mother (an eventuality for
which there were no sound bases) to guarantee care for her child. It seems that here we are faced, with
such a concern of the paternalistic kind, with a curious inversion of ethical judgement, with the laying
of emphasis on the lightest matter of ethical concern and the ignoring, without the minimal objection,
defect would sanction once the pregnancy had begun. The problem for these ethical bodies as regards the new possibilities and use of
PGD is deciding whether these new purposes provide a sufficient benefit to families and to mankind in general as to make it
proportionate to the injury of the loss of the embryos eliminated by PGD. As J.A. Robertson writes: ‘A major issue with new uses of
PGD is whether they sufficiently benefit important human interests to meet the demands of special respect for embryos that
supporters of PGD may require’
n°3, pp.465-471. See p.466.
Ethical Issues in the creation and selection of preimplantation embryos to produce tissue donors, Opinion of the Ethics
Committee of the Human Fertilisation and Embryology Authority, HFEA,22 November 2001. http://www.hfea.gov.uk.
American Society for Reproductive Medicine, A Practice Committee Report: ASRM Practice Guideline: Preimplantation
Genetic Diagnosis, June 2001, http://www.asm.org/media/practice/preimplantation.
Infertility Treatment Authority, Tissue typing in conjunction with preimplantation genetic diagnosis,
http://www.ita.org.au/_documents/licensing/pgd_HLA_Policy_January_04.pdf
Comité Consultatif National d'Ethique pour les sciences de la vie et de la santé, Réflexions sur l'extension du diagnostic
pré-implantatoire, Avis n°72, 4 juillet 2002.
38
J.D.Schulman, S.H.Black, A.Handyside, W.E.Nance, Preimplantation genetic testing for Huntington disease and certain
other dominantly inherited disorders, Clinical Genetics, October 1996, vol.49, n°2, pp.57-58.
39
Y.Verlinsky, S.Rechitsky, O.Verlinsky, C.Masciangelo, K.Lederer, A.Kuliev, Preimplantation Diagnosis for Early-Onset
Alzheimer Disease Caused by V717L Mutation, JAMA, 27 February 2002, vol.287, n°8, pp.1018-1021.
40
D.T.Towner, R.Springer Loewy, Ethics of Preimplantation Diagnosis for a Woman Destined to Develop Early-Onset
Alzheimer Disease, JAMA, 27 February 2002, vol.287, n°8, pp.1038-1040.
See the discussion of the case in pages 465-466 of J.A.Robertson, Extending preimplantation genetic diagnosis, Human
Reproduction, March 2003, vol.18, n°3, pp.465-471.
14
of a grave lack of ethical justification.
The same ethical reservations can be applied to the practice of PGD for the selection of
embryos that do not have any genes with a predisposition to various form of cancer 41. In response to a
request made by the parents, in a context of a recognized family predisposition to a particular form of
cancer, PGD was recently applied to the search for genes with a predisposition to FAP (adenomatous
polyposis coli), to VHL (Von Hippel-Lindau syndrome), to retinoblastoma, to Li- Fraumeni syndrome
(p53 tumor suppressor gene), to neurofibromatosis types I and II, to hSNF5 familiar posterior fossa
brain tumour. Not everyone accepts such a use of PGD, despite the gravity of the pathologies involved,
because the presence of such ‘cancer genes’ does not mean that the human being in question will
necessarily become the victim of that very much feared form of cancer. Here we are dealing with the
prevention of an affliction that is merely possible. One does not have the right to use an illicit method
(for example sterilization) to prevent an affliction that is merely possible (for example a possible
ectopic pregnancy). Parents do not have the right to select a child on the basis of the absence of genes
with a predisposition to a specific form of cancer. This is because such a selection is made through the
elimination of embryos that are the carriers of a gene.
The situation would have been very different for these two examples if the PGD had been
carried out, as some wanted42, to search for factors involving a genetic predisposition to a common
disease such as Alzheimer’s. Like Huntington’s disease, this disease appears late in life and has a
progressive debilitating evolution. But it is totally different at a genetic level. One is no longer dealing,
in the case of Alzheimer’s, with a single gene disease but with a complex disease in which many
factors are at work, including factors involving genetic predisposition (susceptibility conditions). It
would have been a very different case if the family predisposition to Alzheimer’s had been due to a
series of genes, which, indeed, is the most frequent situation. It is clear that to employ a PGD for any
form of disease where there is a genetic, multi-gene, predisposition, within the context of complex
diseases (Parkinson’s disease, diabetes, asthma, epilepsy, coronaropathy, and even obesity, multiple
sclerosis, schizophrenia, bipolar disease or autism), would be a technical and medical error, in addition
to being a negative ethical fact, because the parents would subject themselves to the practice of
artificial fertilization with aggregate PGD which, from an anthropological and ethical point of view, is
of another character, without there being any certainty about the health status of the baby selected in
this way.
41
W.J.Gullick, A.H.Handyside, Pre-implantation Diagnosis of Inherited Predisposition to Cancer, European Journal of
Cancer, December 1994, vol.30A, n°13, pp.2030-2032.
42
J.Savulescu, Procreative beneficience: why we should select the best children, Bioethics, October 2001, vol.15, n°5/6,
pp.413-426.
15
C. PGD for Aneuploidy Research PGD-AS
The ethical judgement is different in relation to the use of PGD to improve the results of
artificial fertilization through the elimination of embryos with chromosomal abnormalities, those
affected in particular by aneuploidy (PGD-AS)43. In fact, the use of PGD so as not to transfer aneuploid
embryos into the womb does not raise more specific objections than have already been raised in
relation to the use of in vitro fertilization or ICSI. The fact of not transferring embryos that are
morphologically abnormal is an integral part of IVF-ET. PGD acts in this field solely to improve this
preventive selection. Thus is this field one is not dealing with a discriminatory PGD but of help to
foster the uterine implantation of embryos that are adjudged to be better.
The fact is that there are many chromosomal anomalies in embryos produced by in vitro
fertilization and such anomalies seem to increase with the age of the woman 44. The percentage of
embryos that have chromosomal anomalies has been directly proportional to the number of IVF
failures in patients that have a poor prognosis as regards the possibility of a pregnancy through IVF-
ET45. Aneuploidy is one of these anomalies. But it is the most common and, furthermore, its diagnosis
is relatively easy thanks to the FISH technique, which is available to all the centers that engage in
PGD. On the one hand, it is clear that there is a relationship between the loss of embryos (‘embryonic
wastage’) in spontaneous abortions and the presence of an aneuploidy in the embryos that are
eliminated in this way. Aneuploidy is encountered in about 60% of all spontaneous abortions 46. On the
other hand, it is also clear that the ageing of the mother is an important factor in the presence of
43
L.Gianaroli, M.C.Magli, A.P.Ferraretti, The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy, Molecular
and Cellular Endocrinology, 22 October 2001, vol.183, suppl.1, pp.S13-S18.
44
The results of investigations indicate that between 23% and 40% (G. Papadopoulos et al., 1989) of embryos produced
through artificial fertilization have chromosome anomalies, above all aneuploidy (M.T. Zenzes and R.F. Casper, February 1992), but
also polyploidy, aploidy, mosaicism and fragmentation (Pellestor et al., Feb. and Oct 1994), trisomy, monosomy, and mytotic non-
disjunction (J.D. Delhanty et al., 1993). Those embryos that encounter most difficulty in developing in vitro also have the most such
chromosomal anomalies. (S. Munné, 1998). In the embryos that develop badly in vitro, it is found that in 70% of cases there is a
chromosomal aberration (mosaicism, polyplody, aploidy, monosomy, trisomy). A higher age in the mother seems to correspond to a
higher level of mytotic non-disjunctions. There is a clear relationship between the chromosomal normality of embryos produced by in
vitro fertilisation for a given patient and a successful result for IVF for this patient (M.T. Zenzes et al., Aug. 1992). These
observations suggest that some aspects of in vitro fertilisation are responsible for the frequency of such anomalies.
G.Papadopoulos, A.A.Templeton, N.Fisk, J.Randall, The frequency of chromosome anomalies in human preimplantation
embryos after in-vitro fertilization, Human Reproduction, January 1989, vol.4, n°1, pp.91-98.
M.T.Zenzes, R.F.Casper, Cytogenetics of human oocytes, zygotes, and embryos after in vitro fertilization, Human Genetics,
February 1992, vol.88, n°4, p.367-375.
M.T.Zenzes, P.Wang, R.F.Casper, Chromosome status of untransferred (spare) embryos and probability of pregnancy
after in-vitro fertilisation, Lancet, 15 August 1992, vol.340, n°8816, pp.391-394.
J.D.Delhanty, D.K.Griffin, A.H.Handyside, J.Harper, G.H.Atkinson, M.H.Pieters, R.M.Winston, Detection of aneuploidy
and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation,
(FISH), Human Molecular Genetics, August 1993, vol.2, n°8, pp.1183-1185.
F.Pellestor, M.C.Dufour, F.Arnal, C.Humeau, Direct assessment of the rate of chromosomal abnormalities in grade IV
human embryos produced by in-vitro fertilization procedure, Human Reproduction, February 1994, vol.9, n°2, pp.293-302.
F.Pellestor, A.Girardet, B.Andreo, F.Arnal, C.Humeau, Relationship between morphology and chromosomal constitution in
human preimplantation embryo, Molecular Reproduction and Development, October 1994, vol.39, n°2, pp.141-146.
S.Munné, J.Cohen, Chromosome abnormalities in human embryos,
Human Reproduction Update, November/December 1998, vol.4, n°6, pp.842-855.
45
L.Gianaroli, M.C.Magli, S.Munné, A.Fiorentino, N.Montanaro, A.P.Ferraretti, Will preimplantation genetic diagnosis assist
patients with a poor prognosis to achieve pregnancy?, Human Reproduction, August 1997, vol.12, n°8, pp.1762-1767.
46
T.Hassold, N.Chen, J.Funkhouser, T.Jooss, B.Manuel, J.Matsuura, A.Matsuyama, C.Wilson, J.A.Yamane, P.A.Jacobs, A
cytogenetic study of 1000 spontaneous abortions, Annals of Human Genetics, October 1980, vol.44, Part 2, pp.151-178.
16
aneuploidy in embryos47. However, many good quality embryos that develop in vitro have
aneuploidy48. The appropriateness of such a technique is said to exist in particular in the following
categories: a woman over the age of 36, or with three previous FIV-ET failures, or with an abnormal
karotype. Indeed, there is a certain improvement in the results of IVF-ET and ICSI when PGD is
applied to such categories, but at the price of a notable destruction of human embryos 49. It is clear that
this planned destruction of human beings for the sole purpose of improving the results of IVF-ET is
disproportionate and unacceptable.
In addition to this basic objection of PGD-AS, another objection should be stressed, which is
more specific in character. It concerns the ethical legitimacy of allowing older women, that is to say
over the age of forty, to have children An examination of the motives of such women is important in
this case in order to distinguish an authentic wish to welcome a new child into the family from a
pathological desire of varying degrees of intensity to ‘possess’ a new child. It may taken for granted, in
addition, that the ethical objections to artificial procreation in general remain.
D. PGD HLA Selection
The selection of embryos according to their HLA type (preimplantation HLA testing, HLA
matching of embryos)50 has not yet entered the statistics of the PGD centers, although there has been a
great deal of talk about it in recent years, at least in the mass media. Recourse to preimplantation
genetic diagnosis to select an embryo that is HLA compatible with a baby that already exists
(preimplantation HLA testing, HLA matching of embryos) in order to use the blood of the umbilical
cord or the bone marrow51 forms a part of the recent proposals to extend PGD and has been the subject
of detailed discussions and noisy dissemination and ventilation in the mass media. It is evident that
such a proposal goes against the ethical principle of Emmanuel Kant: ‘man can be used by no one
(neither by others nor even by himself), merely as a means, but must always be used at the same time
as an end’52. This is the principle upon which all ‘secular’ ethics has been based when an attempt has
been made to discover fundamental ethical guidelines outside the framework of Christian moral
47
J.D.Brook, R.G.Gosden, A.C.Chandley, Maternal ageing and aneuploid embryos--evidence from the mouse that biological
and not chronological age is the important influence, Human Genetics, 1984, vol.66, n°1, pp.41-45.
A.C.Chandley, Maternal aging as the important etiological factor in human aneuploidy, Basic Life Sciences, 1985, vol.36,
pp.409-416.
48
M.E. Jamison et al. (1994), studying 178 human embryos fertilised in vitro, in the second and third day after fertilisation
observed that 19.1% of these embryos were aneuploid and that the morphology and development of these embryos was the same as
with euploid embryos.
M.E.Jamieson, J.R.Coutts, J.M.Connor, The chromosome constitution of human preimplantation embryos fertilized in
vitro, Human Reproduction, april 1994, vol.9, n°4, pp.709-715.
49
For example, L.Gianarolli et al. (1999) present as an ‘immediate impact on the ongoing implantation rate’ the fact that the
percentage of pregnancies reached 37% after the transfer of only euploid embryos into women with a ‘poor prognosis’ of pregnancy
(127), whereas it was only 27% without PGD in the control group (135 women with the same poor prognosis).
L.Gianaroli, M.C.Magli, A.P.Ferraretti, S.Munné, Preimplantation diagnosis for aneuploidies in patients undergoing in vitro
fertilization with a poor prognosis: identification of the categories for which it should be proposed, Fertility and Sterility, November
1999, vol.72, n°5, pp.837-844.
50
Y.Verlinsky, S.Rechitsky, W.Schoolcraft, C.Strom, A.Kuliev, Preimplantation Diagnosis for Fanconi Anemia Combined
with HLA Matching, JAMA, 27 June 2001, vol.285, n°24, pp.3130-3133.
51
When the disease is transmitted genetically in the family that asks for PGD so as to obtain a donor who is HLA compatible
for a child of theirs, the PGD is in fact done twice because one has both to eliminate the embryos that are carriers of the genetic
defect and select from amongst them the one that has the same HLA type as the sick sibling.
R.J.Boyle, Ethics of using preimplantation genetic diagnosis to select a stem cell donor for an existing person, British
Medical Journal, 24 November 2001, vol.323, n°3723, pp.1240-1243.
52
"Agis de telle sorte que tu traites l'humanité aussi bien dans ta personne que dans la personne de tout autre toujours en
même temps comme une fin, et jamais simplement comme un moyen".
E.Kant, Métaphysique des moeurs, deuxième section, 3.
17
theology. In the preimplantation selection of an HLA compatible embryo to be used as a donor of stem
cells, one is dealing in fact with using a new born baby who is procured by artificial fertilization and
developed for this purpose. The baby was not conceived because of its value as a child but as a donor
of stem cells. It seems that we are faced here with an exploitation of a human person to the highest
possible degree, an absence of respect for the dignity of the human being, from the first stage of
development to its use as a donor of blood from its umbilical cord, and a perversion of the meaning of
human procreation53.
Various authors defend the principle of this operation, in opposition to Kant, with the argument
that this statement by Kant should be re-read as ‘never use a person as a means alone’. In the view of
these authors there is nothing new in this: many babies have already been born for a purpose other than
that of their immediate good. They say that although it is true that the ideal of human procreation is a
baby wanted and conceived for its own sake, as an end it itself, it is also true that such an idea is not
always present in the intentions of the parents when they procreate54. These authors observe that a child
wanted in this way as a donor will not be a victim – this baby will be ‘used’ only once as a ‘means’,
that is to say as a donor of blood from its umbilical cord. Otherwise, it will be welcomed by its parents
just like any other child, with affection and care, because it is their child (as an end in itself). This
capacity for welcome of the parents was well demonstrated in the Ayala case 55. It is true that a couple
that goes to such extremes out of a concern about the health of their child and makes such economic
and material efforts to this end demonstrates incontestable qualities that augur very well for the
welcome that such a couple will offer to the child conceived in order to help a sibling. ‘The best
interests of the child’, which forms the founding principle of the British Human Fertilization and
Embryology Act designed to govern ethical judgements regarding techniques of artificial procreation,
will certainly be respected in the action. Lastly, parents that ask to be able to carry out this action, it is
contested, do not have in mind the idea of ‘creating a baby that conforms to their wishes’. One can
rightly say, it is argued, that the child is a ‘savior sibling’ and not a ‘designer baby’: the aim of the
parents is not to create a perfect baby, in conformity with their wishes; the aim of the parents is to cure
their existing child who is sick 56.
This defence of PGD in relation to the selection of a donor of HLA compatible stem cells does
offer certain valid arguments. However, the fundamental objection to such a project remains: in order
to allow a baby to be treated, the choice is taken to eliminate a notable number of embryos without
being able to justify such a policy with the pretext that such embryos are genetically or chromosomally
defective. The choice is made, therefore, to sacrifice the actual existence of human beings at the first
stage of their development with the purpose of helping a child. Such a choice, in the circumstances of
PGD in which it is proposed, appears more than disproportionate.
53
Lord Winston, an British expert in the field of artificial fertilization was one of the first to propose the use of PGD for the
screening out of embryos that are carriers of genetic anomalies, has declared that the fact of creating children to procure stem cells is
‘using an unborn child as a commodity’, an objection that finds its philosophical foundation in the famous pronouncement of Kant:
‘Never use people as a means but always treat them as an end’.
R.J.Boyle, J.Savulescu, Ethics of using preimplantation genetic diagnosis to select a stem cell donor for an existing person,
British Medical Journal, 24 November 2001, vol.323, n°7323, pp.1240-1243, see p.1241.
54
R.J.Boyle and J.Savulescu counter the opinion of Lord Weston and at the same time the application of Kant’s principle to
the case of babies conceived as donors of stem cells with the argument that children are often conceived by parents with the intention
to perform a function. These authors write: ‘Though we might aspire to a world where parents always dote on their children as
unconditional ends, in reality many children are born for a purpose: to care for their parents, as a companion to a sibling, or to run the
family business. Actually Kant's dictum was “Never use people solely as a means”’.
R.J.Boyle, J.Savulescu, Ethics of using preimplantation genetic diagnosis to select a stem cell donor for an existing person,
British Medical Journal, 24 November 2001, vol.323, n°7323, pp.1240-1243, see p.1241.
55
n°3, pp.465-471. see p.468.
56
M.Spriggs, J.Savulescu, "Savior siblings", Journal of Medical Ethics, October 2002, vol.28, n°5, p.289.
18
E. PGD for the ‘Social’ Selection of Sex
The last proposal for the extension of the uses of PGD, the ‘social’ selection of sex (social
sexing), has already become a reality. This use, ignored by the medical journals concerned with PGD 57,
is currently being fully developed and the 2002 report of the ESHRE includes it in its statistics 58. The
advantage of PGD over other methods used for the selection of sex (‘pre-conception selection’, ‘flow
cytometry sex selection in sperm’) is its precision. One may say without any exaggeration that the
advent of the PCR technique has revolutionized the pre-selection of sex59. For parents, its disadvantage
lies in the obligation to pass through the trials of an expensive and demanding practice of artificial
fertilization. The special characteristic of such a use is that it is aimed at users that are totally different
from those of PGD-AS, users that are much younger, and a successful result in terms of pregnancy
rates is higher than what that is usually seen with ART techniques60. The choice of the sex of the future
child through the employment of PGD, with the FISH technique, is certainly within the range of
possibilities of every PGD center. Hitherto, such a choice has been considered inappropriate because it
is a choice that is not medical in character61. When PGD for the ‘social’ selection of the sex of the child
began to develop, most of the centers that practiced PGD rigorously rejected this approach 62. Today,
there is an attempt to mitigate such a distinction by also allowing ‘social’ uses of PGD, albeit with
certain restrictions63. PGD for the selection of sex is thus said to be admissible when applied for a
‘balancing’ of families64, but the notion of ‘balancing’ in relation to the choice of the sex of a child is
57
K.Sermon, A.Van Steirteghem, I.Liebaers, Preimplantation genetic diagnosis, The lancet, 15 May 2004, vol.363, n°9421,
pp.1633-1641.
58
The third report of the ESHRE (2002) on PGD indicates that out of a total of 1,561 PGD cycles, 30 were intended for the
social choosing of sex, a figure that is small in comparison with the other purposes (647 to search for chromosome anomalies). But it
is significant as a concrete sign of the ‘extension’ of PGD to debatable purposes. The same report, in fact, points out a notable
increase in the practice of the choosing of sex through PGD: in 2001 the ESHRE recorded 77 cycles with FISH and 1 cycle with PCR
for ‘social sexing’.
(May 2001), Human Reproduction, January 2002, vol.17, n°1, pp.233-246. See table IV, p.235 and table XIII p.241.
59
A.Shushan, J.G.Schenker JG, Prenatal sex determination and selection, Human Reproduction, October 1993, vol.8, n°10,
pp.1545-1549. See p.1547.
60
In the ESHRE statistics the average age of women who asked for a PGD for a choice of sex was 36. Out of a total of 78
cycles with the retrieving of 1,003 oocytes (OR – oocyte retrieval), followed by the preparation of 735 embryos, 241 of these
embryos (41%) were diagnosed as transferable through a PGD on a biopsy of the embryo at the segmentation stage, 133 were
transferred, and 28 pregnancies were obtained. This amounted to a 35% pregnancy rate, certainly the highest recorded after PGD.
(May 2001), Human Reproduction, January 2002, vol.17, n°1, pp.233-246. See p.240 and table XIII p.241.
61
The States (Denmark, France, Spain, Great Britain) that had passed a specific law in PGD prohibited the use of PGD for
‘social’ choosing of sex, adopting as their guiding principle that PGD was to be limited to the prevention of the birth of children
afflicted with grave congenital diseases. The same judgement was made in 1994 by the Ethics Committee of the American Society of
Reproductive Medicine, which nonetheless observed that ‘Although some members of the Committee believe that nondisease uses of
PGD is ethically unacceptable, other members would not exclude some uses of PGD in special circumstances for gender selection’
(p. 65S).
Comité Consultatif National d'Ethique pour les sciences de la vie et de la santé, Avis n°72, 4 juillet 2002.
The Ethics Committee of the American Society of Reproductive Medicine, Preimplantation genetic diagnosis, in Ethical
considerations of assisted reproductive technologies, Fertility and Sterility, November 1994, vol.62, n°4, suppl.1, pp.64S-66S. The
Italian law on artificial procreation (law 44/2004) prohibits also the using of artificial procreation for sex selection.
62
‘Why balance families?’ exclaimed K. Dawson and A. Trounson in 1996, adding that if parents really wanted a child of a
specific sex they could refer to the technique of sperm selection.
K.Dawson, A.Trounson, Ethics of sex selection for family balancing, Human Reproduction, December 1996, vol.11, n°12,
pp.2577-2578.
63
G.Pennings, Personal desires of patients and social obligations of geneticists: applying preimplantation genetic diagnosis
for non-medical sex selection, Prenatal Diagnosis, December 2002, vol.22, n°12, pp.1123-1128.
64
A.Malpani, A.Malpani, D.Modi, Preimplantation sex selection for family balancing in India, Human Reproduction, January
2002, vol.17, n°1, pp.11-12.
The ESHRE Ethics Task Force, F.Shenfield, G.Pennings, P.Devroey, C.Sureau, B.Tarlatzis, J.Cohen, Taskforce 5:
preimplantation genetic diagnosis, Human Reproduction, March 2003, vol.18, n°3, pp.649-651.
G.Pennings, G.de Wert, Evolving ethics in medically assisted reproduction, Human Reproduction Update, July/August
19
very subjective, with a social inclination towards ‘males in many countries’65.
Taking into account the importance of the subject for humans and the present-day extension of
various practices involving the choice of the sex of children in particular in those countries where the
number of children that a couple can have is limited by law, such a form of PGD will undergo
increasing use in countries where it is authorized. The purely discriminatory character of the goal of
such a practice should be immediately stressed, as well as the inadequacy of the use of the term
‘diagnosis’ when no illness is involved. For this reason, even though the ESHRE has included this
practice in its statistics on PGD, it appears to be unsuitable to analyze the grave ethical problems
connected with such a trade in this area of PGD.
2003, vol.9, n°4, pp.398-404.

65
M.D.Hansotia, Family balancing by preimplantation genetic diagnosis in India, letter to the author, Human Reproduction,
October 2002, vol.17, n°10, pp.2778-2779.
20
CONCLUSION
In conclusion, the practice of PGD and the extension of its uses to cases that are increasingly
less grave and less justifiable from a medical point of view raises grave ethical problems. Beyond the
fact that PGD requires the use of artificial fertilization techniques, and in particular the ICSI technique
when the diagnosis employs PCR, the basic ethical objection is that PGD is based upon a devaluation
of the value of the embryo during the first stage of its development. However, this objection is not new
and is applicable to many other activities which today in varying ways are accepted by different sets of
national legislation, from artificial fertilization techniques to the proposal to engaging in human
cloning for so-called ‘therapeutic’ purposes, and on to the use of cryopreserved and abandoned
embryos and experimentation with embryos. What is peculiar to PGD and makes it so grave is that
behind the innocuous facade of such a technique, which does not involve anxiety and suffering for its
users and thus seems a very good alternative to prenatal diagnosis and its potentially cruel discoveries,
PGD, in fact, is a discriminatory, typically eugenic, technique, where a selection of human beings is
engaged in that is based upon purely biological and not always safe criteria. Furthermore, PGD opens
the door to the as yet still utopian world of ‘designer babies’, that is to say babies selected because of
their physical characteristics, not only their sex but also their muscular strength, their mnemonic
capacity, their manual dexterity, and so forth66.
Although PGD has worrying aspects, and certain unacceptable applications of PGD are already
being engaged in, not everything in this valuable scientific-technical step forward should be
condemned. The development of pre-conception selection PGD, through the biopsy of polar bodies,
makes, for example, PGD much more acceptable. The discriminatory aspect of PGD in relation to
people affected by genetic or chromosomal disorders or some physical inferiority can be tolerated if
PGD is rigidly directed towards giving couples who suffer from a genetic or chromosomal defect the
possibility of having children that are immune from a fearsome family disease: for example, Lesch-
Nyhan’s syndrome, cystic fibrosis, muscular dystrophy, thalassemia or sickle-cell disease. But there
always remains the fact that PGD is linked to the illicit practice of artificial fertilization.
66
J.A. Robertson, who is in favor of PGD, has, however, provided an excellent summary of the ethical questions
and issues connected with PGD. That summary as follows: ‘The second kind of concern is consequentialist. It arises
from fears that increasing the frequency and scope of genetic screening of prospective children will move us toward a
eugenic world in which children are valued more for their genotype than for their inherent characteristics, eventually
ushering into a world of “designer” children in which genetic engineering of offspring becomes routine’.
J.A.Robertson, Extending preimplantation genetic diagnosis: the ethical debate, Human Reproduction, March
2003, vol.18, n°3, pp.465-471. See p.466.
21
TABLE DES MATIÈRES
I General Observations
A. The Planned Destruction of Human Embryos in PGD....................................................................5

B. The Eugenics at Works in PGD.......................................................................................................8
II The Various Application of PGD
A. PGD fot Monogenic Disorders or Chromosomal Disorders............................................................9

1) The indications Disorders linked to Chromosome X – Single gene autosomal diseases – The search
for chromosomal anomalies
2) Ethical Questions
B. The Extension of PGD to Other Genetic Factors...........................................................................13
C. PGD for Aneuploidy Research PGD-AS ......................................................................................16
D. PGD HLA Selection .....................................................................................................................17
E. PGD for the ‘Social’ Selection of Sex............................................................................................19
Conclusion......................................................................................................................................................21
Document transmis
par
Mgr J. Suaudeau
Pontificia Academia Pro Vita
le 7. I. 2009
Édition numérique
par
salettensis@gmail.com
Disponible à
http://www.scribd.com/doc/50633647
On consultera le dossier spécifique

http://www.genethique.org/doss_theme/dossiers/dpi/acc_dpi.htm
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P G D Preimplantation Diagnosis Ethical Questions

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P G D Preimplantation Diagnosis Ethical Questions

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PREIMPLANTATION DIAGNOSIS

On consultera le dossier spécifique

Preimplantation genetic diagnosis was introduced in the early 1990s as an alternative to

A. The Planned Destruction of Human Embryos in PGD

A. PGD fot Monogenic Disorders or Chromosomal Disorders

Disorders linked to Chromosome X

The search for chromosomal anomalies

Preimplantation genetic diagnosis to search for single gene disorders (PGD-SG) or

Adopting a position opposed to that of a negative judgement on the selection of embryos

of Medical Ethics, April 2003, vol.29, n°2, pp.90-92.

B. The Extension of PGD to Other Genetic Factors

D. PGD HLA Selection

2003, vol.9, n°4, pp.398-404.

A. The Planned Destruction of Human Embryos in PGD....................................................................5

II The Various Application of PGD

A. PGD fot Monogenic Disorders or Chromosomal Disorders............................................................9

On consultera le dossier spécifique

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