“Is there a way to understand if my child has any genetic issue during pregnancy?”
I am 4 months pregnant. My first child was born with Down's syndrome and after much reluctance, my husband and I have planned to have a second child. Can we identify if our second child has Down's syndrome (or any other birth defect) while they're in the womb?
3 Answers
There are prenatal testing options available. Non-invasive prenatal screening (NIPT/NIPS) does screen for select conditions including for Downs syndrome. Depending on your family history, additional testing may be indicated for you and your partner. I recommend you speak with your doctor and explore the various options available to you.
1) If your screening test results are positive or worrisome, 2) or you're at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis, even at the stage when you are 4 months pregnant. Your health care provider can help you weigh the pros and cons of these tests. Diagnostic tests that can identify Down syndrome early in the pregnancy include Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low. Diagnostic tests that can identify Down syndrome later in the pregnancy include: Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.