Prenatal Screening

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

Ultrasound
This is a noninvasive procedure that is harmless to both the fetus and the mother.
. High frequency sound waves are utilized to produce visible images from the pattern of the echos made by different tissues and organs, including the baby in the amniotic cavity

 The developing embryo can first be visualized at about 6 weeks gestation. It determines the size and position of the fetus, the size and position of the placenta, the amount of amniotic fluid, and the appearance of fetal anatomy Limitations of this procedure: Subtle abnormalities may not be detected until later in pregnancy, or may not be detected at all. Example - Down syndrome (trisomy 21) where the morphologic abnormalities are often not marked, but only subtle, such as nuchal thickening.

Congenital malformations determined by ultrasound:

the neural tube defects anencephaly and spina bida abdominal wall defects, such as omphalocele and gastroschisis ; Heart defects facial defects (cleft lip and palate)

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. Ultrasound methods have become relatively inexpensive, quick and convenient, compared to techniques such as X-rays or MRI scans. The equipment can be made portable, and the images can be stored electronically.

 No harmful effects have been detected, at the intensity levels used for examinations and imaging. This contrasts with methods based on Xrays or on radioactive isotopes, which have known risks associated with them, and ultrasound methods are preferred whenever possible. This is particularly relevant to examination of expectant mothers. Ultrasound is particularly suited to imaging soft tissues such as the heart and other internal organs, and examining blood vessels.

Cons
1. The major disadvantage is that the resolution of images is often limited. This is being overcome as time passes, but there are still many situations where X-rays produce a much higher resolution. 2. Ultrasound is reflected very strongly on passing from tissue to gas, or vice versa. This means that ultrasound cannot be used for examinations of areas of the body containing gas, such as the lungs and the digestive system. 3. Ultrasound also does not pass well through bone, so that the method is of limited use in diagnosing fractures. Ultrasound images of the heart are possible but difficult to obtain, as it is mostly obscured by the lungs and rib-cage. It is possible to obtain quite good ultrasound scans of the brain, but much greater detail is obtained by an MRI scan.

Amniocentesis

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. For prenatal diagnosis, most amniocenteses are performed between 14 and 20 weeks gestation. However, an ultrasound examination always precedes amniocentesis in order to determine gestational age, the position of the fetus and placenta, and determine if enough amniotic fluid is present.

 Within the amniotic fluid are fetal cells (mostly derived from fetal skin) which can be grown in culture for chromosome analysis, biochemical analysis, and molecular biologic analysis.
Indications for genetic amniocentesis include advanced maternal age, previous child born with a chromosomal abnormality, parent carrying a chromosomal abnormality, and family history of neural tube defects.

Pros
The amniocentesis can be used in early pregnancy to detect genetic defects in the fetus due to chromosomal abnormalities (like Down syndrome), sex-linked defects (like hemophilia), neural tube defects (like spina bifida), inborn errors of metabolism (like cystic fibrosis), and enzyme deficiencies (like Tay-Sachs disease). Indications for genetic amniocentesis include advanced maternal age, previous child born with a chromosomal abnormality, parent carrying a chromosomal abnormality, and family history of neural tube defects.

Cons
Complications are rare but some can be serious. The placenta, fetus, or umbilical cord may be punctured inadvertently, causing injuries ranging from minor scratches of fetal parts to intrauterine hemorrhage, leading to fetal distress and intrauterine fetal death. Placental perforation could result in hemorrhage from the fetal circulation, 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)

Chorionic Villus Sampling (CVS)

is a prenatal test that is mainly used to learn about the chromosomes of a developing baby. this test is usually performed between 10 and 13 weeks of pregnancy. CVS is done by taking a sample of chorionic tissue from your placenta as opposed to taking a sample of amniotic fluid, which is done in a different diagnostic test called amniocentesis.

 In this procedure, a catheter is passed via the vagina through the cervix and into the uterus to the developing placenta under ultrasound guidance.

Alternative approaches are:

transvaginal (a thin, flexible tube (catheter) is put into your vagina, through your cervix, then into the placental tissue. A small bit of the placental tissue is removed. When there is an active herpes infection, the transcervical method is not used.)

 transabdominal (a needle is put through your abdominal wall and into the placental tissue. A small bit of the placental tissue is removed.)

 The introduction of the catheter allows sampling of cells from the placental chorionic villi. These cells can then be analyzed by a variety of techniques. 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.

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, who want to know such information. It is known that 70% of Down babies are born to women who are less than 35 years of age and, therefore, would not have been offered amniocentesis.

Cons
CVS has the disadvantage of being an invasive procedure, and it has a small but significant rate of morbidity for the fetus; this loss rate is about 0.5 to 1% higher than for women undergoing amniocentesis. Rarely, CVS can be associated with limb defects in the fetus.

 The possibility of maternal Rh sensitization is present. There is also the possibility that maternal blood cells in the developing placenta will be sampled instead of fetal cells and confound chromosome analysis.

Maternal Serum Sampling

Maternal serum screening is an optional blood test done on pregnant women to check for certain neural tube defects.

These neural tube defects and other abnormalities are: omphalocele, gastroschisis, bladder exstrophy, amniotic band syndrome, sacro-coccygeal teratoma intestinal atresia,

 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. The test is usually conducted between 15 and 18 weeks into pregnancy. It measures the hormones estriol, human chorionic gonadotropin (hCG), which are also produced by your baby and enter into your bloodstream as well as alphafetoprotein (AFP) concentrations

Cont..
When AFP, estriol and hCG are measured together, the test is known as a triple screen. AFP levels increase in amniotic uid and maternal serum. A When the levels AFP concentration decline, the unborn fetus could possibly have a Down syndrome (trisomy 18), sex chromosome abnormality or triploidy.

Pros
Can detect twins, triplets, and higherorder multiple births, allowing you to receive the appropriate care. Can help you choose between a caesarean or vaginal delivery.

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

Issues with diagnostic procedures

Despite perceived degree of safety, some procedures, esp. invasive ones carry risks that threaten the health of both mother and fetus. 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 mothers 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 providers 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, wherein the mother has to make the call for the welfare of the child (e.g. will she save the fetus, abort it, etc.)

Privacy issues (contd)

Diagnostic testing also opens the involvement of third parties (family, society, companies) in the decisionmaking of the parents As an example, consider this: a fetus is found out to have cystic fibrosis and the parents decided to keep the baby. The parents employer gives a statement that it will not take responsibility for the baby and provide for its healthcare needs.

Privacy issues (contd)

In the example, an outside party has indirectly affected the decision of the parents Without prenatal screening, the privacy of the parents (as in their personal obligation to decide for their childs future) could have been ensured

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 (contd)

The normalization of the procedure will lead to unnecessary costs and anxiety to the mother

Trivialization of abortion
Once a patient finds out the condition of the fetus, 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 (contd)

Early diagnosis, seen as beneficial for a better decision-making, meanwhile opens the topic of the rightness of abortion (early abortion is thought to be less traumatic and more justifiable following this)

Resolution

Sources
Jong, A., Dondorp, WJ., Die-Smulder, DEM., Frints, SGM. & Wert, GM. 2010. Non-invasive prenatal testing: ethical issues explored. European Journal of Human Genetics, 18(3): 272277 Gates, EA. 1993. Ethical considerations in prenatal diagnosis. Western Journal of Medicine,159(3): 391395.