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Pregnancy is an exciting journey for the parents, however, it is accompanied by anxiousness too. The parents eagerly observe every milestone of the baby’s development but are also concerned about the health of their baby. While most babies are born healthy, some might suffer from birth defects. Certain birth defects can be detected during pregnancy. One method of screening for birth defects is a blood test called maternal serum screening. Hence, it is important for you to understand your options for obtaining details about your baby's health and development during pregnancy.
Maternal serum screening tests are simple blood tests offered to pregnant females that identify the risk of a birth defect in the unborn child. Maternal Screening Tests majorly include Dual Marker Test, Quadruple Marker Test, Non-Invasive Prenatal Screening (NIPS), etc. These blood tests can tell you the chances of your unborn baby having a genetic disorder (Trisomy 21, 18, 13 or Neural Tube Defects). The screening does not provide a yes-or-no answer about the presence or absence of these conditions. Rather, the screening identifies pregnancies that may be in a higher risk group and, in turn, can serve as a guide to choosing further testing to confirm or rule out these conditions.
This includes a blood test (Dual Marker Test) and an ultrasound exam (NT scan) between 11 and 13 weeks of pregnancy.
The dual marker test is a blood test that measures the levels of two substances (PAPP-A and Free Beta HCG) in the maternal blood.
The NT scan helps measure the thickness of the space under the skin of the baby's neck. An abnormal measurement means there is an increased risk of the unborn baby having Down syndrome (trisomy 21) or another type of aneuploidy.
Dual marker test along with NT scan and mother’s age gauges the risk for Down Syndrome, Edward Syndrome or Patau Syndrome in the unborn child.
This includes the “Quadruple Marker” blood test which measures the levels of four different substances in the maternal blood. This test screens for Down syndrome, Edwards syndrome (trisomy 18), and NTDs. It is done between 15 and 18 weeks of pregnancy.
These tests can give you more information about your chances of carrying a child with specific genetic/chromosomal abnormalities. These defects include genetic conditions like Down Syndrome, Patau Syndrome, Edward Syndrome or Neural Tube Defects.
Down syndrome, also called trisomy 21, results when there are three copies of chromosome 21 in each cell rather than two. Children with Down syndrome have characteristic features that include a flat facial profile, varying degrees of mental retardation and may also have other birth defects such as heart and intestinal abnormalities.
Neural Tube Defects occur when the neural tube does not close properly, leading to either paralysis of legs or incomplete development of the brain and skull. The neural tube forms the early brain and spine of the baby.
Edward Syndrome or Trisomy 18 is more severe than Down syndrome. The clinical features of trisomy 18 include severe mental retardation, heart, lung, and kidney abnormalities, and a significantly decreased life span. Only about 5 percent of children born with trisomy 18 survive beyond the first year of life.
Pregnant females aged 35 or above
Family history of birth defects
Repetitive first trimester abortions
Smoking
Exposed to viral infections
Previous child born with a birth defect
History of insulin-dependent (type 1) diabetes prior to pregnancy
These disorders affect the child physiologically as well as psychologically. Hence, it is essential to undergo these tests to ensure that a healthy baby will be born. The results of these tests will also help you prepare yourself mentally to identify the ways to tackle any problems if they arise. This will give you more time to make decisions about further diagnostic tests, the course of the pregnancy, medical treatment and management during and after delivery.
As per the recommended guidelines, all pregnant women regardless of their age should undergo a maternal screening test.
YES. All non-invasive tests viz. dual marker, quadruple marker or NIPS are completely safe for both mother & baby. However, prenatal diagnostic tests like amniocentesis and CVS carry a slight risk of miscarriage.
If the results indicate low risk or screen negative, then it means that the baby is at a lower risk of having genetic disorders compared with the general population.
If the results indicate moderate to high risk or screen positive, then it means that your baby might have a higher probability of developing the disorder when compared to the general population. It does not mean that your baby will definitely develop the disorder. A diagnostic test is the only way to confirm the findings of screening tests.
Diagnostic testing with genetic testing of CVS or amniocentesis, which gives a more definite result, is an option for all pregnant women. You should consult your gynaecologist and a genetic counsellor to discuss what your screening test results mean so that they can help you decide the next steps.
If you have a positive test result, your gynecologist and a genetics professional will discuss your options, including additional testing:
NIPS is an advanced blood test (non-invasive) that screens fetal cell-free DNA (the small amount of baby’s DNA that is present in maternal blood) for genetic abnormalities. This test can be done between 10 weeks and 17 weeks of pregnancy. This test has a much higher detection rate of birth defects when compared to the dual or quadruple marker test. A normal result might eliminate the need for a more invasive prenatal diagnostic test. But, it is still a screening test and needs to be confirmed by amniocentesis or chorionic villus sampling.
CVS, an invasive procedure, can be used to diagnose chromosomal conditions such as Down syndrome. During CVS, which is usually done during the first trimester, a sample of tissue from the placenta is removed for testing. CVS is then sent to the lab for further genetic testing.
Amniocentesis is also an invasive procedure that can be used to diagnose both chromosomal conditions, such as Down syndrome and neural tube defects. During amniocentesis, which is usually done during the second trimester, a sample of amniotic fluid is removed from the uterus (mother’s womb) by using a needle. Post that genetic tests like Karyotyping or FISH are performed on amniotic fluid.
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