Testing For Birth Defects – Part I

Pregnancy can be quite the scary venture; however the payoff of a beautiful baby at the end is well worth the journey. During pregnancy, there may be times you will be offered  certain tests to check the welfare of your baby. From the outset there are a number of tests that can be run to give you an idea of how the pregnancy is progressing, and of any possible deficiencies your baby might be at risk for.  These tests are performed at various stages in the pregnancy, in most cases are completely normal, and are used to assess the baby’s risk of specific defects.


Early indications of certain defects during pregnancy is many times nothing to fret about. Your AOA physician is extremely skilled in reading the results from these tests, and while it might be a scary proposition to run the tests and hear the outcomes, the choice is yours whether you want to conduct the tests to get the reassurance associated with a normal result.

First Trimester

During the first trimester, an ultrasound may be performed to test for fetal nuchal translucency, which tells you if there is fluid around certain areas of the baby. A maternal serum test may also be performed to check for chromosomal abnormalities as well as human chorionic gonadotropin, which is another hormone test that will give the same information in terms of issues with the child’s chromosomes. These first trimester tests are used to look for Down syndrome, and other chromosomal conditions.

Second Trimester

In the second trimester, the alpha-fetoprotein screening is offered. Abnormal levels of the protein may indicate the presence of Down syndrome, spina bifida, the presence of twins, or an inaccurate due date. While these tests might be stress inducing for new moms, they are a great resource to prepare yourself by assessing your risk of some defect.

Jump to Part II