Genetic Screening

At Virginia Beach OB/GYN we are proud to offer a comprehensive genetic screening program for patients who are pregnant or planning conception. For pregnant women we traditionally offer genetic screening for trisomies such as Trisomy 21 (Down’s Syndrome), Trisomy 18 and Trisomy 13 as well as screening for common genetic disorders that are transmitted from parents to children.

For expectant parents who are considered high-risk based on the mothers age or a prior history of an infant affected with trisomy, we often refer to Maternal Fetal Medicine (a group of perinatologists or high risk obstetricians) who work in conjunction with genetic counselors to offer genetic diagnostic testing as well as screening methods.

For patients who are not considered high-risk, we offer genetic screening. There are three basic screening tests for Trisomies. NIPT (noninvasive prenatal testing, also referred to as cell-free fetal DNA) is among the newest and most sophisticated techniques used to screen for genetic disorders. This test can be performed as early as 10 weeks and requires a simple blood draw from the mothers arm. In addition to assesing the risk of having a child affected with trisomy, the parents can find out the fetal gender if they so desire as early as 10 weeks. However it is among the most expensive of the genetic screening options and is often not covered by insurance unless the patient is considered high risk.

We also offer Sequential Screen with nuchal translucency measurement . This is a two-step test involving a maternal blood test between 11 and 14 weeks gestation combined with a specific ultrasound measurement at that time as well as a second blood test between 16 and 20 weeks. The results are compiled and reported after completion of the second lab test. This test screens for Trisomy 21 and 18, but it is not detect Trisomy 13 nor can a person identify gender with this screening tool. This tests also screens for Spina Bifida (Open Neural Tube Defects).

The Quad Screen or AFP 4 test is a simple maternal blood draw between 16 and 20 weeks which screens for Trisomy 21 and Trisomy 18 with a slightly lower sensitivity and specificity as well as a higher false positive rate. It also screens for Spina Bifida (open neural tube defects).The quad screen is covered by most insurance carriers. Like the sequential screen it does not detect Trisomy 13 or enable the parent to detect gender.

All patients are offered a morphologic screening ultrasound at 20 weeks gestation and in most cases fetal gender can be identified if the parents desire. We offer 3-D ultrasound to all patients at 20 weeks in order to obtain three-dimensional profiling of your baby’s face and hands if technically possible. It is important to know however that ultrasound itself is not a reliable screening test for Trisomy. The purpose of the morphologic ultrasound is to evaluate the fetal growth and screen for major birth defects, placental and uterine abnormalities.

We also offer all pregnant patients testing for three common genetic disorders, Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome. These tests are performed by drawing a maternal blood sample at any gestational age or even before pregnancy. They are sometimes covered by insurance. Once the patient has been tested and found not to be carrier in any pregnancy, the test need not be repeated in subsequent pregnancies.
Patients at specific increased risk for certain genetic conditions based on personal or family history such as patients of Ashkenazi-Jewish heritage or patients with relatives affected with genetic disorders may be offered or referred for additional testing.

Insurance coverage for genetic screening can often be confusing as they are sometimes considered elective. Due to the complexity of coverage guidelines based on each carrier and each plan, we are unable to guarantee insurance coverage for any of the above tests. We have information for you to assist you when contacting your insurance carrier to establsish your personal coverage. Please be advised that even if testing is a covered service, it could still be applied to unmet deductibles and co-pays resulting in a bill to you directly. We encourage you to contact your insurance company to obtain your benefits so that there are no surprises. The laboratories will bill you separately for the testing that you elect.