How You Can Test for Birth Defects

March 6, 2018
8 of the Most Common Birth Defects Explained
March 19, 2018

Birth defect tests can give parents tremendous peace of mind when the results are negative. When they are positive and indicate there may be a potential problem, they can give parents time to deal with their emotions about it and come up with a plan of attack for how to best handle those defects.

While sometimes there isn’t much, if anything, doctors can do about the birth defects, other times they can help tremendously, such as in the case of spina bifida surgeries done pre-birth on the fetus.

First Trimester Screening Tests

  • Nuchal translucency test: This ultrasound screening is often done in the late part of the first trimester. It measures the back of your baby’s neck — a thicker than normal measurement can be an early warning sign of particular birth defects, such as Down syndrome.
  • Blood tests: The blood tests in the first trimester look specifically at two things — beta human chorionic gonadotropin, better known as beta-hCG, and plasma protein A, better known as PAPP-A. Large amounts of beta-hCG may mean certain birth defects could be present, while low amounts of PAPP-A may be a red flag for birth defects.
  • Cell free fetal DNA: If there’s reason to believe a woman may have a baby with a genetic condition, like Down syndrome, this blood test can be performed in the first trimester.

Second Trimester Screening Tests:

  • Triple or quadruple blood test: This test is done anywhere from the 15th to the 20th week of pregnancy to find out whether your baby might have certain issues. Alpha-fetoprotein (AFP), beta human chorionic gonadotropin (beta-hCG) and a kind of estrogen are checked in the triple test. In the quad test, the hormone inhibin A level is checked as well (source).
  • Ultrasound: This is the test many expectant moms look forward to, but are still nervous about. Using an ultrasound between 18 to 20 weeks of a pregnancy can help doctors spot problems, such as heart, belly, or spine issues, as well as Down syndrome (source).

First Trimester Diagnostic Tests

  • Chorionic villus sampling: This test is performed at the 10-to-12-week point of your pregnancy. It can help identify conditions such as Down syndrome, sickle cell disease and cystic fibrosis. To collect the chorionic villus cells, the doctor will put a catheter in your uterus or put a needle in your uterus through your belly (source).

Second Trimester Diagnostic Tests

  • Amniocentesis: Performed between 15 to 20 weeks of your pregnancy, an amniocentesis is when your doctor sticks a needle into your belly to reach the uterus to get a sample of amniotic fluid. This test can detect chromosomal-related problems and other defects like spina bifida.

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