Skip to content

    Health & Pregnancy

    Font Size

    Genetic Testing

    WebMD Medical Reference

    Who Gets the Test?

    Genetic testing is an option for any woman before or during pregnancy. Sometimes the baby's father gets tested, too. Your doctor may suggest genetic testing if family history puts your baby at a higher risk of inherited diseases.

    The tests you need may depend on your heritage. Certain ethnic groups have a higher risk of certain diseases. For instance, people with eastern European or Ashkenazi backgrounds have a higher risk of Tay-Sachs disease and Canavan disease. African-Americans have a higher risk of sickle cell disease. Whites have a higher risk of cystic fibrosis.

    What the Test Does

    Doctors use different types of genetic testing. Standard screenings check your baby's risk of birth defects such as Down syndrome, trisomy 18, trisomy 13, neural tube defects, and others. Carrier tests can show if you -- or the baby's father -- could carry genetic diseases. These include cystic fibrosis, Fragile X syndrome, sickle cell disease, Tay-Sachs, and others.

    How the Test Is Done

    A nurse or phlebotomist will take a sample of your blood or saliva. There is no risk to you or your baby.

    What to Know About the Test Results

    Genetic tests don't diagnose your baby with a disease. They only tell you if your baby has a higher risk. Your doctor may suggest follow-up tests, such as amniocentesis or CVS, to get more information.

    Testing the father can also help. Some diseases can be inherited only if both parents carry the gene. Your doctor can rule out some problems, such as Tay-Sachs, cystic fibrosis, and sickle cell anemia, if the father tests negative -- even if you test positive.

    How Often the Test Is Done in Your Pregnancy

    Just once.

    Other Names for This Test

    Carrier Screening, Triple Screen, Quad Screen, Multiple Marker Screening

    Tests Similar to This One

    Amniocentesis, CVS

    Reviewed on May 13, 2016

    Pregnancy Week-By-Week Newsletter

    Delivered right to your inbox, get pictures and facts on
    what to expect each week of your pregnancy.

    Today on WebMD

    hand circling date on calendar
    Track your most fertile days.
    woman looking at ultrasound
    Week-by-week pregnancy guide.
    Pretty pregnant woman timing contaction pains
    The signs to watch out for.
    pregnant woman in hospital
    Are there ways to do it naturally?
    slideshow fetal development
    pregnancy first trimester warning signs
    What Causes Bipolar
    Woman trying on dress in store
    pregnant woman
    Woman looking at pregnancy test
    calendar and baby buggy
    dark chocolate squares