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Abes. Miranda. Samoranos. Tomas. Rodrin
What is prenatal screening?
• Prenatal screening uses a variety of techniques that determines the health and condition of an unborn fetus. • These tests can help identify health problems that could endanger both you and your unborn child, some of which are treatable.
Why Are Prenatal Tests Performed?
Prenatal tests can identify several different things:
• treatable health problems in the mother that can affect the baby's health • characteristics of the baby, including size, sex, age, and placement in the uterus • the chance that a baby has certain congenital, genetic, or chromosomal problems • certain types of fetal abnormalities, including some heart problems.
Prenatal diagnosis is beneficial for:
• Managing the remaining weeks of the pregnancy • Determining the outcome of the pregnancy • Planning for possible complications with the birth process • Planning for problems that may occur in the newborn infant • Deciding whether to continue the pregnancy • Finding conditions that may affect future pregnancies
Common techniques in Prenatal screening • • • • Ultrasound Amniocentesis Chorionic villus sampling Maternal serum screening .
Ultrasound • This is a noninvasive procedure that is harmless to both the fetus and the mother. including the baby in the amniotic cavity . . •High frequency sound waves are utilized to produce visible images from the pattern of the echos made by different tissues and organs.
. and the appearance of fetal anatomy Limitations of this procedure: • Subtle abnormalities may not be detected until later in pregnancy. Example . • It determines the size and position of the fetus. the amount of amniotic fluid. but only subtle. the size and position of the placenta.Down syndrome (trisomy 21) where the morphologic abnormalities are often not marked. such as nuchal thickening.• The developing embryo can first be visualized at about 6 weeks gestation. or may not be detected at all.
– Heart defects – facial defects (cleft lip and palate) .Congenital malformations determined by ultrasound: – the neural tube defects anencephaly and spina biﬁda – abdominal wall defects. such as omphalocele and gastroschisis .
Pros • Ultrasound examinations are non-invasive because they do not require the body to be opened up. . or anything to be inserted into the body. compared to techniques such as X-rays or MRI scans. and the images can be stored electronically. • Ultrasound methods have become relatively inexpensive. quick and convenient. The equipment can be made portable.
which have known risks associated with them. This is particularly relevant to examination of expectant mothers. . This contrasts with methods based on Xrays or on radioactive isotopes. • Ultrasound is particularly suited to imaging soft tissues such as the heart and other internal organs. and ultrasound methods are preferred whenever possible.• No harmful effects have been detected. and examining blood vessels. at the intensity levels used for examinations and imaging.
It is possible to obtain quite good ultrasound scans of the brain. Ultrasound is reflected very strongly on passing from tissue to gas.Cons 1. This means that ultrasound cannot be used for examinations of areas of the body containing gas. The major disadvantage is that the resolution of images is often limited. . 2. Ultrasound also does not pass well through bone. or vice versa. This is being overcome as time passes. Ultrasound images of the heart are possible but difficult to obtain. such as the lungs and the digestive system. but there are still many situations where X-rays produce a much higher resolution. as it is mostly obscured by the lungs and rib-cage. but much greater detail is obtained by an MRI scan. so that the method is of limited use in diagnosing fractures. 3.
the position of the fetus and placenta. • However. an ultrasound examination always precedes amniocentesis in order to determine gestational age. . • For prenatal diagnosis.Amniocentesis • This is an invasive procedure is a procedure in which amniotic fluid is removed from the amniotic sac through a needle inserted in the abdominal wall in conjunction with ultrasound. and determine if enough amniotic fluid is present. most amniocenteses are performed between 14 and 20 weeks gestation.
previous child born with a chromosomal abnormality. biochemical analysis.• Within the amniotic fluid are fetal cells (mostly derived from fetal skin) which can be grown in culture for chromosome analysis. and family history of neural tube defects. . • Indications for genetic amniocentesis include advanced maternal age. and molecular biologic analysis. parent carrying a chromosomal abnormality.
previous child born with a chromosomal abnormality. Indications for genetic amniocentesis include advanced maternal age. inborn errors of metabolism (like cystic fibrosis). and family history of neural tube defects. . and enzyme deficiencies (like Tay-Sachs disease).Pros • The amniocentesis can be used in early pregnancy to detect genetic defects in the fetus due to chromosomal abnormalities (like Down syndrome). parent carrying a chromosomal abnormality. neural tube defects (like spina bifida). sex-linked defects (like hemophilia).
Cons • Complications are rare but some can be serious. leading to fetal distress and intrauterine fetal death. or umbilical cord may be punctured inadvertently. fetus. The placenta. Placental perforation could result in hemorrhage from the fetal circulation. causing injuries ranging from minor scratches of fetal parts to intrauterine hemorrhage. . which could lead to fetal anemia or to increased sensitization of a Rh negative mother. Other hazards include induction of preterm labor and intraamniotic infection.
Chorionic Villus Sampling (CVS) .
which is done in a different diagnostic test called amniocentesis. • this test is usually performed between 10 and 13 weeks of pregnancy.Chorionic Villus Sampling (CVS) • is a prenatal test that is mainly used to learn about the chromosomes of a developing baby. . • CVS is done by taking a sample of chorionic tissue from your placenta as opposed to taking a sample of amniotic fluid.
a catheter is passed via the vagina through the cervix and into the uterus to the developing placenta under ultrasound guidance. .• In this procedure.
the transcervical method is not used. When there is an active herpes infection. flexible tube (catheter) is put into your vagina. then into the placental tissue.) . through your cervix. A small bit of the placental tissue is removed.Alternative approaches are: • transvaginal (a thin.
A small bit of the placental tissue is removed.• transabdominal (a needle is put through your abdominal wall and into the placental tissue.) .
• The most common test employed on cells obtained by CVS is chromosome analysis to determine the karyotype of the fetus. • The cells can also be grown in culture for biochemical or molecular biologic analysis. • These cells can then be analyzed by a variety of techniques.• The introduction of the catheter allows sampling of cells from the placental chorionic villi. .
therefore.Pros • It allows screening on an individual basis for pregnant women of all ages • Risk assessment for the chance of chromosomal abnormalities in women less than the age of 35. . would not have been offered amniocentesis. • It is known that 70% of Down babies are born to women who are less than 35 years of age and. who want to know such information.
• Rarely. this loss rate is about 0.5 to 1% higher than for women undergoing amniocentesis. . and it has a small but significant rate of morbidity for the fetus. CVS can be associated with limb defects in the fetus.Cons • CVS has the disadvantage of being an invasive procedure.
• There is also the possibility that maternal blood cells in the developing placenta will be sampled instead of fetal cells and confound chromosome analysis.• The possibility of maternal Rh sensitization is present. .
Maternal Serum Sampling • Maternal serum screening is an optional blood test done on pregnant women to check for certain neural tube defects. .
sacro-coccygeal teratoma intestinal atresia. bladder exstrophy. amniotic band syndrome. gastroschisis.These neural tube defects and other abnormalities are: omphalocele. .
which are also produced by your baby and enter into your bloodstream as well as alphafetoprotein (AFP) concentrations . • It measures the hormones estriol. The test is usually conducted between 15 and 18 weeks into pregnancy. human chorionic gonadotropin (hCG).• Maternal serum screening is also known as a multiple marker screening test or triple screen because it measures levels of several substances in the blood.
Cont. • AFP levels increase in amniotic ﬂuid and maternal serum. estriol and hCG are measured together. • When AFP. . the unborn fetus could possibly have a Down syndrome (trisomy 18). A • When the levels AFP concentration decline. sex chromosome abnormality or triploidy.. the test is known as a triple screen.
. triplets. • Can help you choose between a caesarean or vaginal delivery.Pros • Can detect twins. allowing you to receive the appropriate care. and higherorder multiple births.
Cons • Tests have a high level of "false-positive" results • May present complications in those with bleeding disorders • May cause a bruise at the needle site • Testing can be expensive depending on the results • Can lead to amniocentesis or chronic villus sampling which increases your risk of miscarriage .
Ethical concerns with prenatal screening .
Prenatal diagnostic testing raises important ethical issues regarding the following: – Diagnostic procedures – Informed consent – Protection of the “fetal patient” and privacy – Normalization of prenatal diagnosis – Trivialization of abortion .
some procedures.Issues with diagnostic procedures • Despite perceived degree of safety. invasive ones carry risks that threaten the health of both mother and fetus. esp. • The increasing options in diagnosis may also have the drawback of increasing the burden of knowledge and choice for the women concerned (read: unnecessary decision-making on the part of the mother happens) .
Issues with diagnostic procedures • Although it can provide assurance. prenatal screening can also give needless and too much anxiety to the mother • Implications of a prenatal diagnosis result can also cast heavy effects on the mother’s well-being as decisions about pregnancy borne out of the diagnostic result can be personally challenging to the mother and the family .
Issues with informed consent • A wide scale application of the diagnosis may undermine informed consent • Although it should be prescribed to high-risks mothers. prenatal screening can be administered to parents without pre-test or risk assessment • The problem with inadequate dealing with information on the healthcare provider’s part is also raised .
) .Privacy issues • The knowledge about the fetus’ condition often leads to crucial decision-making on the part of the other who takes responsibility of the fetus she carries • This decision-making extends its bearing to the concept of the “fetal patient. abort it. etc. will she save the fetus.” wherein the mother has to make the call for the welfare of the child (e.g.
companies) in the decisionmaking of the parents • As an example. society. consider this: a fetus is found out to have cystic fibrosis and the parents decided to keep the baby.Privacy issues (cont’d) • Diagnostic testing also opens the involvement of third parties (family. The parent’s employer gives a statement that it will not take responsibility for the baby and provide for its healthcare needs. .
the privacy of the parents (as in their personal obligation to decide for their child’s future) could have been ensured .Privacy issues (cont’d) • In the example. an outside party has indirectly affected the decision of the parents • Without prenatal screening.
Issue with normalization • The accessibility and the lack of risks of noninvasive prenatal diagnostic procedures have rendered them as a viable option for pregnant women • The increase in number of safe choices made prenatal screening a “course” that should be taken as part of pregnancy management when it should not be the case .
Issue with normalization (cont’d) • The normalization of the procedure will lead to unnecessary costs and anxiety to the mother .
selective abortion becomes an option • A fetus positive with a congenital defect or a trait unwanted to the parents and this may push them to go for an abortion .Trivialization of abortion • Once a patient finds out the condition of the fetus.
meanwhile opens the topic of the rightness of abortion (early abortion is thought to be less traumatic and more justifiable following this) . seen as beneficial for a better decision-making.Trivialization of abortion (cont’d) • Early diagnosis.
159(3): 391–395. 18(3): 272–277 Gates. & Wert. .. Dondorp. A.. SGM. 1993. Western Journal of Medicine. Frints. Ethical considerations in prenatal diagnosis. Die-Smulder. GM. European Journal of Human Genetics.. Non-invasive prenatal testing: ethical issues explored. DEM. EA.Sources Jong. 2010. WJ.
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