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Genetic Screening

Whether it’s to assess your risks or to gain more information about suspected problems, Women First can provide safe, noninvasive and highly accurate screening tests for you and your baby. These newer tests give insight into your risk for a number of chromosomal disorders, such as Down syndrome (extra chromosome 21), as well as gender. Another group of tests will screen you as a carrier of more than 100 different autosomal recessive diseases. As a result, invasive tests such as amniocentesis or CVS, which have a risk of miscarriage, are rarely needed.

Some of these tests that are available in pregnancy include:

MaterniT 21 (Sequenom) or Prelude Prenatal Screen (Counsyl)

Technology allows us to test your baby’s chromosomes by doing a simple test of your blood. These tests can be done any time after 10 weeks and screen for Down syndrome (Trisomy 21), Trisomy 18, and Trisomy 13, as well as sex chromosomal disorders. These tests screen for the most common chromosomal disorders, yet they do not test for all chromosomal issues. And, while a negative test result is very reassuring, it does not always guarantee a healthy baby.

Spina Bifida Screening

We also offer a simple blood test to screen for spina bifida, or open neural tube defect—the most common birth defect. This test is MSAFP (maternal serum alfa fetal protein), which is done ideally between 16 and 20 weeks of pregnancy at a relatively low cost. Taking folic acid pre-conceptually and very early in pregnancy can significantly reduce the risk of your baby having spina bifida.

Foresight Carrier Screen (Counsyl) or HerediT (Sequenom) Carrier Screening

There are thousands of genes on our chromosomes, and many of us are carriers of a specific gene defect without being aware of it. When your partner carries the same recessive gene, your child has a 25% chance of receiving both genes and getting the disease. Examples of these types of recessive genetic diseases, which affect one in 400 births, include cystic fibrosis and sickle cell anemia.

A simple blood test can screen you and your partner to see if you are a carrier of more than 100 genetic diseases that are relevant to pregnancy and babies. When we only screen based on ethnicity and family history, we miss 80% of carriers. An expanded genetic carrier blood test can be done at any time, pre-conceptually or during pregnancy.

Deciding on Genetic Testing

Genetic screens are optional; only you can decide if they’re right for you. You may want to discuss these testing options at a visit with your physician early in your pregnancy. If you are interested, you should see how much your insurance will cover and how much your cost will be by contacting Counsyl or Sequenom to get your individual cost.

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