Received: 8 August 2016 | Revised: 27 October 2016 | Accepted: 9 December 2016

DOI 10.1002/ajmg.a.38123

ORIGINAL ARTICLE

Revised estimates of the risk of fetal loss following a prenatal

diagnosis of trisomy 13 or trisomy 18

Alana Cavadino | Joan K. Morris

Wolfson Institute of Preventive Medicine,

Queen Mary University of London, London, UK
Correspondence
Prof. Joan K Morris, Centre for Environmental
and Preventive Medicine, Wolfson Institute of
Preventive Medicine, Barts and the London
School of Medicine and Dentistry, Queen Mary
University of London, Charterhouse Square,
London EC1M 6BQ.
Email: j.k.morris@qmul.ac.uk
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss
rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational
week of age using data from the National Down Syndrome Cytogenetic Register. Data from all
pregnancies with Edwards or Patau syndrome that were prenatally detected in England and
Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were
entered into the analysis at the time of gestation at diagnosis, and were considered “under
observation” until the gestation at outcome. There were 4088 prenatal diagnoses of trisomy 18
and 1471 of trisomy 13 in the analysis. For trisomy 18, 30% (95%CI: 25-34%) of viable fetuses at
12 weeks will result in a live birth and at 39 weeks gestation 67% (60-73%) will result in a live birth.
For trisomy 13 the survival is 50% (41-58%) at 12 weeks and 84% (73-90%) at 39 weeks. There
was no significant difference in survival between males and females when diagnosed at 12 weeks
for trisomy 18 (P-value = 0.27) or trisomy 13 (P-value = 0.47). This paper provides the most
precise gestational age-specific estimates currently available for the risk of fetal loss in trisomy 13
and trisomy 18 pregnancies in a general population.

KEYWORDS
fetal loss, trisomy 13, trisomy 18

1 | INTRODUCTION
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) are
the most common autosomal trisomies in live births after Down
syndrome (trisomy 21). In the absence of prenatal screening and
selective termination, the live birth prevalence is 2.3 per 10,000 births
for Edwards syndrome and 1.4 per 10,000 births for Patau syndrome
(Savva, Walker, & Morris, 2010). Both these syndromes have a high
risk of fetal death (Tennant, Pearce, Bythell, & Rankin, 2010), with only
1 in 12 surviving for 1 year or more and a median postnatal survival of 2
weeks (Wu, Springett, & Morris, 2013).
Since April 2016, all pregnant women in England have been
offered the combined screening test for Down, Edwards and Patau
syndrome at 10-14 weeks gestation. These syndromes have high
natural fetal loss rates and so it is important that women carrying an
affected fetus receive a reliable prognosis for their pregnancy.
Accurate estimates of fetal loss rates also enable the effect of
prenatal screening policies on birth prevalence to be quantified. The
fetal loss rates for trisomy 13 and 18 have previously been estimated
for pregnancies between 10 and 14 weeks and between 15 and
20 weeks. This has been done by determining the survival of relatively
small numbers of pregnancies detected prenatally (Morris and Savva,
2008; Won, Currier, Lorey, & Towner, 2005; Yamanaka et al., 2006), or
by comparing prevalence in mothers undergoing fetal karyotyping
with the prevalence at birth in a population with no access to prenatal
diagnosis (Snijders, Holzgreve, Cuckle, & Nicolaides, 1994). The
current study aimed to provide revised estimates by single gestational
week of age using data from the National Down Syndrome
Cytogenetic Register (NDSCR) on all pregnancies with Edwards or
Patau syndrome that were prenatally detected in England and Wales
from 2004 to 2014.
2 | M ATERIA LS AN D METH ODS
2.1 | The national down syndrome cytogenetic
register (NDSCR)
Since 1st January 2004, all 20 clinical cytogenetic laboratories in
England and Wales have completed a form for the National Down

Am J Med Genet. 2017;173:953–958. wileyonlinelibrary.com/journal/ajmga © 2017 Wiley Periodicals, Inc. | 953

954 | CAVADINO
Syndrome Cytogenetic Register for each diagnosis of Edwards
syndrome and Patau syndrome and their variants (Springett & Morris,
2014). The definitive test for the syndromes is detection of a whole or
part of an extra chromosome 18 (Edwards syndrome) or chromosome
13 (Patau syndrome). The cases include live births, fetal deaths
comprising stillbirths (24+ weeks) and late miscarriages (20-23 weeks),
and terminations of pregnancy for fetal anomaly. Earlier fetal deaths
(before 20 weeks) are rarely karyotyped, and those that were
registered are unlikely to be representative of those in the population.
This study only includes prenatal diagnoses of trisomy 13 and 18,
hence cases karyotyped subsequent to a miscarriage or stillbirth are
excluded. Data collected on each case includes the cytogenetic
findings, indication for referral, diagnostic test performed, maternal
age or date of birth, outcome of the pregnancy and date and
gestational age at testing and outcome. A copy of the form is sent to
the referring physician for confirmation and completion by most
laboratories. The NDSCR staff contact the referring physicians if the
forms are not completed or the forms contain missing or discrepant
information. Annual reports of the findings are produced, with the
most recent being for the year 2013 (Morris & Springett, 2014). It has
been shown that the NDSCR covers between 93 and 99% of all
diagnoses of Down syndrome in England and Wales (Morris, Grinsted,
& Springett, 2016; Savva & Morris, 2009), and this coverage is
expected to be the same for trisomy 13 and 18.
From 2004 to 2014, 6324 prenatal diagnoses were reported to
the NDSCR; 4659 of trisomy 18 (excluding mosaics) and 1665 of
trisomy 13 (excluding mosaics). Of these, 589 (9%) had no information
after the time of diagnosis; these cases were excluded since their
pregnancy outcome was unknown, leaving 5735 cases available for
analysis.
2.2 | Statistical analysis
Survival probabilities were calculated separately for fetuses with
trisomy 18 and 13 using Kaplan-Meier survival estimates. Pregnan-
cies entered the analysis at their gestational age of diagnosis, and
were considered “under observation” until the time of gestation at
outcome. All fetal losses were considered adverse outcomes and all
terminations were considered censored observations, with censor-
ing at the gestational age at termination. A small proportion of
women on receiving a prenatal diagnosis will plan to continue with
the pregnancy, and a much larger proportion will plan to have a
termination. For some women a fetal loss will occur before the
planned termination, and this is recorded in the data as a fetal loss.
This significantly inflates the estimates of fetal loss amongst women
continuing with their pregnancy (Morris, Wald, & Watt, 1999). It is
therefore important to include all pregnancies up until the time the
termination occurs.
Pregnancies ending in a live birth were assumed to have survived to
40 weeks gestation. Cases karyotyped subsequent to a miscarriage or
stillbirth were not included in the analysis as these diagnoses were made
after the pregnancy outcome. The sex difference in loss rates was tested
AND MORRIS
using a log-rank test of the equality of survivor functions. All analyses were
conducted using the statistical package STATA 12.
2.3 | Determining the length of time from diagnosis
to outcome
Gestational age was missing in 947 (17%) cases for the timing of
diagnosis and/or the time of pregnancy outcome. Of these, 771 (81%)
had some further information on which, in order to include the
maximum number of cases in the analysis, the following assumptions
were made: Unknown gestational ages at diagnosis were assumed to
have occurred at 12 weeks if a CVS had been performed (n = 90) and at
15 weeks if an amniocentesis had been performed (n = 49). For those
missing gestational age at outcome, the length of time from diagnosis
to a termination of pregnancy was assumed to be 1 week after a
diagnosis by CVS (n = 543) and 3 weeks after diagnosis by
amniocentesis (n = 176). These assumptions were tested in sensitivity
analyses by assessing the effect of increasing and decreasing the
assumed times described here on the estimated survival probabilities.
No information was available to estimate timing of diagnosis or
outcome for 176 cases, so these were excluded from the analysis.
In summary, of 5735 cases 176 (3%) were excluded due to missing
information, and of the remaining 5559 cases 771 (14%) had some
imputed information as detailed above.
3 | RE SULTS
There were 4088 prenatal diagnoses of trisomy 18 and 1471 of
trisomy 13 in the analysis. The average maternal age was 35 years with
a range from 15 to 52 years. Table 1 shows that only 3-4% of prenatally
diagnosed trisomy 13 and 18 pregnancies resulted in a live birth, due to
the large proportion of terminations that occurred. The majority of
diagnoses occurred between 12 and 15 weeks gestation (Table 1).
Figure 1 shows the Kaplan-Meier survival curve (with 95%
confidence intervals) for the probability of survival of trisomy 13 and
trisomy 18 fetuses from 12 to 39 weeks gestation. Table 2 shows
that 30% (95% CI: 25-34%) of viable fetuses with trisomy 18 at
12 weeks will result in a live birth, and of those viable at 20 weeks,
36% (31-41%) will result in a live birth. At 39 weeks gestation 67%
(60-73%) will result in a live birth, with the remaining 33% being still
born. The corresponding figures for trisomy 13 pregnancies are 50%
(41-58%) at 12 weeks, 59% (49-68%) at 20 weeks and 84% (73-90%)
at 39 weeks.
There were 1762 males, 2050 females and 276 (7%) fetuses with
unknown sex amongst the trisomy 18 pregnancies (Table 1). The
survival of fetuses with trisomy 18 according to sex is displayed in
Figure 2. There was no significant difference in survival between males
and females with 29% (95% CI: 23-36%) of viable male fetuses with
trisomy 18 at 12 weeks resulting in a live birth and 32% (95% CI: 26-39)
of viable female fetuses surviving (P-value = 0.27). Similarly, no sex
difference was observed in trisomy 13 pregnancies (P-value = 0.47).
CAVADINO AND MORRIS | 955

TABLE 1 Number of trisomy 13 and trisomy 18 pregnancies 4 | DISCUSSION

diagnosed prenatally according to pregnancy outcome and
gestational age at diagnosis This study provides the most precise estimates currently available for
Trisomy 13 (%) Trisomy 18 (%) the risk of natural fetal loss following a prenatal diagnosis of trisomy 13
Pregnancy outcome or trisomy 18. This highlights an important use of a national congenital
Live births 59 (4) 122 (3) anomaly register, which has accumulated sufficient numbers of cases
Miscarriages/stillbirths 101 (7) 346 (8) to provide precise estimates of fetal loss rates according to each week
Terminations 1311 (89) 3620 (89) of gestational age amongst these rare anomalies that are applicable to

Gestational age at diagnosis, completed weeks the general population.

There are clear differences in the fetal loss rates for trisomy 18
<12 82 (6) 421 (10)
compared with trisomy 13. For trisomy 13, the loss rates are
12-15 812 (55) 2260 (55)
constant throughout the pregnancy, whereas for trisomy 18 the
16-19 181 (12) 445 (11)
rates appear less between 18 and 28 weeks. The pattern for trisomy
20-23 331 (23) 790 (19)
18 resembles that observed for trisomy 21 (Savva, Morris, Mutton, &
24+ 65 (4) 172 (4)
Alberman, 2006).
Sex of fetus
Fetal loss rates can be estimated using two different methods;
Male 758 (52) 1762 (43) direct estimation involves observing the survival in affected pregnan-
Female 611 (42) 2050 (50) cies detected prenatally and indirect estimation compares the
Unknown 102 (7) 276 (7) prevalence in mothers undergoing fetal karyotyping due to their
Total number of pregnancies 1471 4088 advanced maternal age with the prevalence at birth in a population
with no access to prenatal diagnosis. Table 3 compares the fetal loss
As a sensitivity analysis, the estimated proportion of fetuses rates observed in this study with those observed in direct estimation
surviving at each week of gestational age were re-calculated to test studies including at least 50 affected pregnancies and the one indirect
assumptions made about missing gestational age at diagnosis or estimation study. Direct estimation studies in smaller samples of less
outcome for 771 cases. For fetuses diagnosed at CVS or amniocentesis than 50 pregnancies are not included in Table 3 because the estimates
but with missing gestational age information, the assumed gestational are imprecise and the studies are often based in one specific hospital
age at diagnosis was 12 and 15 weeks, respectively. We varied these where the survival may not reflect the population survival (Barry et al.,
assumptions between 10 and 14 weeks for CVS and 13 and 17 weeks 2015; Burke, Field, & Morrison, 2013; Hook, Topol, & Cross, 1989;
for amniocentesis. For fetuses terminated at unknown gestation Lakovschek, Streubel, & Ulm, 2011). The fetal loss rates estimated in
following a known gestational age at diagnosis, time to outcome was this study are very similar to those observed in an earlier study using
assumed to be 1 and 3 weeks for CVS and amniocentesis, respectively. the same methodology with data from pregnancies prenatally
We assessed the effect of ranging these times from 1 day to 2 weeks diagnosed with trisomy 13 and 18 between 1989 and 2003 from
for CVS and from 1 to 4 weeks for amniocentesis. For all combinations five regional congenital anomaly registers in England and Wales
of assumed timings, the estimated survival proportions and 95% (Morris & Savva, 2008). Estimated survival rates for trisomy 18
confidence limits varied by less than 2% (in terms of the absolute pregnancies after around 20 weeks gestation are slightly higher in the
estimated percentage of fetuses not resulting in a live birth). current study. However, the confidence intervals are wide and overlap

F I G UR E 1 Kaplan-Meier survival curves for trisomy 18 and trisomy 13

956 | CAVADINO AND MORRIS

TABLE 2 Estimates of the proportions of trisomy 13 and trisomy 18 This suggests that cases detected following an ultrasound scan may be
pregnancies resulting in a live birth according to gestational age more likely to result in a miscarriage or stillbirth, compared to those
Estimated percentage (95%CI) detected through serum screening. This is also suggested by the
Gestational age results of Yamanaka et al. (2006), who followed up a cohort of trisomy
(completed weeks) Trisomy 13 Trisomy 18 18 pregnancies where the majority were identified due to abnormal
10 48 (39-56) 30 (25-34) ultrasound findings and diagnosed at a mean gestation of 28 weeks.
11 48 (39-56) 30 (25-34) Despite the later gestational age of diagnosis in this study compared to
12 50 (41-58) 30 (25-34) that of Won et al. (2005), a higher proportion of 45% (32-58%) ended

13 51 (42-59) 30 (26-35) in fetal loss. This compares with our estimate of 61% (55-66%) from
28 weeks.
14 52 (43-60) 31 (26-36)
In our study, fetal loss rates were slightly higher for male than
15 54 (44-62) 33 (28-37)
female fetuses with trisomy 18, but the difference was small and not
16 55 (45-63) 33 (29-38)
statistically significant. Other studies have reported larger differences
17 56 (46-64) 35 (30-40)
(Hook et al., 1989; Huether et al., 1996; Niedrist, Riegel, Achermann,
18 57 (47-65) 35 (30-40)
Rousson, & Schinzel, 2006). These studies observed the ratio of males
19 58 (48-67) 35 (30-40)
to females in trisomy 18 live births to be around 0.69:1 (0.46:1 in our
20 59 (49-68) 36 (31-41) study), with the ratio at amniocentesis being around 0.9:1 (0.86:1 in
21 60 (50-69) 36 (31-41) our study). This appears to imply a greater risk of fetal loss between
22 61 (51-70) 36 (31-42) amniocentesis and birth for male fetuses with trisomy 18 than for
23 61 (51-70) 37 (31-42) females. However, in our study the loss rate for males was only slightly
24 63 (52-72) 37 (32-42) greater than for females. An alternative explanation is that there may
25 63 (52-72) 38 (32-43) be some bias that results in a greater proportion of male fetuses being

26 64 (54-73) 38 (33-43) diagnosed prenatally compared to female fetuses. It has been shown
that male fetuses with trisomy 18 are more likely than female fetuses
27 66 (55-74) 39 (33-44)
to have limb abnormalities, orofacial clefts, and abdominal wall defects
28 67 (56-76) 39 (34-45)
(Springett et al., 2015). These defects may be associated with a greater
29 68 (57-76) 40 (34-45)
risk of being detected prenatally, which could then explain why there
30 69 (58-77) 41 (35-46)
are many fewer male fetuses at birth and yet the same proportion are
31 69 (58-77) 43 (37-48)
detected prenatally and the fetal loss is similar from prenatal diagnosis.
32 70 (59-79) 44 (38-50)
Unfortunately, the NDSCR does not have sufficiently accurate
33 72 (61-80) 46 (40-52) information on associated anomalies in these pregnancies to investi-
34 73 (62-81) 49 (43-55) gate this hypothesis further. No sex difference was observed in the
35 75 (64-83) 52 (46-59) trisomy 13 loss rate, which is consistent with previous findings by
36 76 (65-84) 56 (49-62) Huether et al. (1996).
37 80 (69-88) 59 (52-65) A major strength of this study is that it the NDSCR covers a very
38 82 (72-89) 63 (56-70) high proportion of the population of England and Wales, and is

39 84 (73-90) 67 (60-73)
between the two studies, hence the estimates from 20 weeks should
not be considered inconsistent with each other.
The fetal loss rates estimated by Snijders et al. (1994) are
consistently higher than those in other studies. However Snijders’
estimates of the relative frequencies of the trisomies at birth are very
imprecise as they are based on only three cases of trisomy 13 and
seven of trisomy 18 (Hook & Hammerton, 1977).
Won et al. (2005) followed 106 trisomy 18 pregnancies from
20 weeks to birth in which termination had been declined. Of these,
32% (95%CI: 23-42%) ended in fetal loss between 20 weeks gestation
and term, which is considerably lower than our estimate of 64%
(59-69%) at 21 weeks. Their study only included cases karyotyped
following abnormal serum screening results in a single centre, whereas
our dataset included all prenatal diagnoses, a large proportion of which
were diagnosed due to detection of an anomaly on an ultrasound scan.
therefore representative of the general population. Data from the
NDSCR has been compared with other congenital anomaly registers in
England and Wales as well as those from the Office for National
Statistics, showing that the register has captured an estimated 93% of
all diagnosed births and pregnancy terminations for Down's syndrome
since it started in 1989 (Savva & Morris, 2009). This study was based
on data from 1995 to 2002 and included both pre- and post-natal
diagnoses. A more recent study including only prenatal diagnoses
compared the number of terminations for Down syndrome with the
number reported by the Department of Health in 2011 and 2012, and
found that the NDSCR had information on 99% of all cases (Morris
et al., 2016). Since our study was based on prenatal diagnoses, we
believe that the coverage for the current analyses is likely to be closer
to 99%. In addition, the NDSCR has high levels of completeness, with
over 90% complete data for the following key variables: gestational
age at diagnosis, date of pregnancy outcome, type of pregnancy
outcome, mother's date of birth, and the sex of the fetus (Savva &
Morris, 2009). These variables also showed high percentages of
CAVADINO AND MORRIS | 957

F I G UR E 2 Kaplan-Meier survival curves for trisomy 18 males and females

concordance when looking at matched cases in the NDCSR with the
British Isles Network of Congenital Anomaly Registers and the
National Congenital Anomaly System.
A limitation of this study is that we excluded 589 cases (9%) in
which the pregnancy outcome was not recorded. In our previous work
on Down syndrome, however, the reasons for missing outcome data
were often administrative. It can be difficult, for example, to trace a
woman who has had a diagnosis made in the private sector if she then
requests a termination on the NHS. In cases with missing outcomes
that were subsequently traced, however, no association of delay in
ascertaining outcome data with the type of pregnancy outcome was
found (Springett & Morris, 2014).
Of the 5559 cases included in these analyses, 771 (14%) had some
imputed information. In order to test the assumptions, analyses were
repeated by assuming different gestational ages for those with known
diagnosis by CVS or amniocentesis, and by varying the assumed
lengths of time between diagnosis and termination for those with
unknown date of termination. The results did not materially differ for
any of the assumed timings tested, and this missing information is
therefore unlikely to affect our results.
5 | C ONC LU SI ON S
This paper provides the most precise gestational age-specific
estimates currently available for the risk of fetal loss in trisomy 13
and trisomy 18 pregnancies in a general population. The worldwide
increase in prenatal screening for trisomies 13, 18, and 21 and in fetal
anomaly ultrasound scans at around 20 weeks gestation have led to an
increase in the number of women referred for prenatal diagnoses.
Combined with increasing maternal age, this has led to an increase in
the number of cases of trisomy 13 and 18, and in the proportion of

TABLE 3 Estimated proportion of viable fetuses not resulting in a live birth (95% CI)
Gestational age at diagnosis (weeks)

Number of pregnancies diagnosed prenatally 9-14 15-20 >20 28

Trisomy 13
Snijders et al. (1994) † 80 (42-97) 57 (0-91) - -
Morris & Savva (2008) 175 49 (29-73) 42 (18-72) 35 (5-70)‡ 33 (5-69)‡
Current study 1471 50 (42-59)1 44 (36-54)2 40 (31-50)3 33 (24-44)
Trisomy 18
Snijders et al. (1994) † 86 (66-95) 70 (35-89) - -
Won et al. (2005) 106 - - 32 (23-42) -
Yamanaka et al. (2006) 63 - - - 45 (32-58)
Morris & Savva (2008) 475 72 (61-81) 65 (57-79) 59 (49-77) 52 (41-65)
Current study 4088 70 (66-75)1 65 (60-70)2 64 (59-69)3 61 (55-66)

†Individual pregnancies were not followed. Instead prevalence in mothers undergoing fetal karyotyping due to their advanced maternal age was compared
with the prevalence at birth in a population with no access to prenatal diagnosis.
‡
Personal communication JK Morris.
1
Estimate for 12 weeks of gestation.
2
Estimate for 17 weeks of gestation.
3
Estimate for 21 weeks of gestation.
958 | CAVADINO
these cases that are detected prenatally. It is important that women
carrying a fetus with trisomy 13 or 18 receive a reliable prognosis for
their pregnancy.
ACKNOWLEDGMENTS
We thank Anna Springett, Haiyan Wu, Karen Clarke, and Ellen Clancy,
for all their work in maintaining the NDSCR database.
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How to cite this article: Cavadino A and Morris JK. Revised
estimates of the risk of fetal loss following a prenatal
diagnosis of trisomy 13 or trisomy 18. Am J Med Genet Part
A. 2017;173A:953–958. https://doi.org/10.1002/
ajmg.a.38123