Identifying Birth Defects
June 14, 2017
Category: Health
Tags: Birth Defects  

Find out the diagnostic tests that can be performed to check for birth defects.birth defects

While we know that being pregnant should be an exciting time in your life, we also know that there is a lot to think about. This is particularly the case for women with high-risk pregnancies. That’s why our Jackson, MS, maternal-fetal medicine specialist Dr. Robert Naef III is here to provide the compassionate, thorough care you need throughout your pregnancy. Of course, we highly recommend getting birth defect testing to check for potential problems.

While our maternal-fetal medicine doctor in Jackson, MS, specializes in high-risk pregnancies, all pregnant women should receive prenatal screenings to check the health of their growing baby. There are a few different screenings that you will undergo throughout the course of your pregnancy, and if your OBGYN determines you are high risk, they can refer you to Dr. Naef for additional testing and treatment.

The First Trimester

Within the first 11 to 13 weeks of your pregnancy, we will want to check for specific birth defects that involve the chromosomes or the heart. Through an ultrasound and a blood test, we will be able to detect high or low protein levels that may indicate that there is a chromosomal disorder such as Downs syndrome. We will also be able to check for heart defects in your baby through our high-quality ultrasound technology. There are other tests that can be performed to check for genetic issues.

Second Trimester

During your second trimester, you will want to come in for a checkup with the 15-20-week mark. Again, we will perform another ultrasound, typically at 18-20 weeks, to check the growth and development of your baby and to pinpoint more visible birth defects. A serum test will also be performed. This is just a regular blood test, which will check for issues such as a neural tube defect or other common birth defects.

What if test results come back abnormal?

If you receive an abnormal test result, then we will most likely recommend further testing to determine if your baby does have a birth defect or if the test detected another issue. Of course, with a high-risk pregnancy these tests below may also be recommended:

Amniocentesis: to test for genetic disorders such as Tay-Sachs disease

Chorionic Villus Sampling (CVS): gathering a very small sample of the placenta to check for genetic disorders

If you are pregnant and are considered high risk, then call or ask your OBGYN to call for a referral to Mississippi Maternal-Fetal Medicine in Jackson, MS. We are happy to work with your schedule to get you in to see Dr. Naef as soon as possible.