Pregnancy is a crucial phase for every woman. If you are pregnant, you must be worried about your baby’s health. While most of the babies are born healthy, it’s crucial to understand the options available to examine your baby’s health. For this purpose, doctors advise would-be mothers to undergo prenatal tests to detect any genetic disorders or defects in your baby.
What are the different types of prenatal testing available ?
Prenatal testing is a procedure that involves both screening and diagnostic tests
Screening tests
Prenatal screening tests are usually advised in the first or second trimester that helps determine if your baby has birth defects, most of which are inherited disorders. These generally include a specific ultrasound and prenatal cell-free DNA screening. Also, these tests do not indicate definitive results.
First trimester screenings : During this phase, your obstetrician will suggest a blood test and an ultrasound to examine the size of the clear space located in the tissue at the back of a baby’s neck (nuchal translucency). In case of DOWN syndrome and various other conditions, the nuchal transparency measurement is abnormally large.
Second trimester screenings : During this phase, your obstetrician will advise a blood test Quad screen or multiple marker, which aids in screening your baby for Down syndrome, trisomy 18 and neural tube defects (abnormalities in the brain or spinal cord).
Prenatal cell-free DNA screening
This blood test helps evaluate fetal DNA present in the maternal bloodstream to determine possibilities of chromosomal issues like Down syndrome. This method is generally suggested if your age is 35 year or older, abnormal sequential or quadruple marker screening, abnormal ultrasound investigations or your family has a history of having a baby with chromosomal abnormalities.
Diagnostic tests
A screening or prenatal cell-free DNA screening test indicates genetic defects due to your age or your family has a possible chance of having a baby with chromosomal abnormalities. In this case, a prenatal diagnosis test might be required. Diagnosis tests like Chorionic villus sampling and Amniocentesis are more invasive than screening tests.
Chorionic villus sampling test involves extracting a small part of tissue from the placenta performed at the 10th or 12th week of pregnancy. It is executed in two ways – testing through the belly called trans abdominal test and testing through the cervix called trans cervical test. The cons of this test are that the female may experience spotting or cramps and there are minute chances of miscarriage.
In an amniocentesis test, the amniotic fluid (fluid that surrounds the baby during pregnancy) is removed from the uterus for examination. The amniotic fluid consists of fetal cells with the same genetic structure as of the baby and chemical secreted by the baby’s body. There are several types of amniocentesis.
A genetic amniocentesis tests is done to detect genetic disorders like down syndrome and spina bifida.
Why prenatal tests are important ?
Identifying paternity : Helps determine the father of your baby.
Spotting genetic health issues : These tests help in detecting birth defects and other conditions. However, not all prenatal tests can conclude genetic defect with certainty but they can determine whether the fetus is at low or high risk.
Diagnosing abnormalities : Development abnormalities in the baby such as Down syndrome can be examined via prenatal testing.
Monitoring baby’s health : Regular prenatal testing helps keep a regular track on your baby’s growth to ensure a healthy pregnancy. Various benchmarks like growth, age, size, heart rate and heart rate can be measured through prenatal tests.
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