Genetic Screening Options

Genetic screening and testing is used to help parents prepare for babies with possible genetic abnormalities.  If positive testing results, your team will be better able to provide you and your baby with additional care.  These tests are offered to all pregnant patients.  However, please be aware that you may be responsible for the costs of these tests if you have normal risk pregnancy and/or your insurance company does not cover these tests.  Check with your insurance company about coverage.

Cell free DNA

This is a non-invasive blood test which carries no risk to the mother or baby that screens for certain chromosomal abnormalities. This test is available for women with an increased risk. Risk factors include:

• Advanced maternal age (women age 35 and older at time of delivery)
• Personal or family history of a chromosomal abnormalities
• Certain abnormalities seen on ultrasound

This test detects fetal DNA circulating in the mother’s circulation. It screens for abnormalities on chromosome 21 (Down’s Syndrome), 18, and 13. It does not screen all chromosomes. The detection rate is 99%. A positive screen can be confirmed with CVS sampling or an amniocentesis if you desire.

This test can also detect the gender of the baby

Your blood can be drawn as early as 10 weeks, and results are available within 7-10 days.


Maternal AFP

AFP is a protein normally produced by the fetal liver and is present in the amniotic fluid, crossing the placenta and into the mother’s bloodstream.  Abnormal AFP can be a sign of defects such as spinal bifida, abdominal wall defects, and certain chromosomal abnormalities.  AFP is collected as a blood test between 15 and 23 weeks gestation.  The results will be reported in approximately 7 days.

Additional genetic testing

Other testing can be performed to estimate the probability of chromosomal abnormalities, including the First Trimester Screen or Sequential Screen using the Nuchal Translucency on ultrasound, or the QUAD screen.  Speak to your provider for additional information.

Cystic Fibrosis

This is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. This gene makes the body produce thick mucus in the lungs. This mucus promotes infections that are often life-threatening. In the pancreas, similar thick secretions can lead to serious problems with food absorption. People with CF usually survive into their 30’s.

Cystic Fibrosis Testing is a single blood draw performed to determine if an individual is a carrier for cystic fibrosis. If one partner tests positive as a carrier for CF, then the other partner should be tested, as both parents have to be carriers of the gene to have a child with CF.

Chorionic Villus Sampling (CVS) or amniocentesis

These are diagnostic procedures that may be performed by a maternal fetal medicine specialist to diagnose chromosomal abnormalities or certain genetic disorders.  A CVS test can be performed between 10-13 weeks by inserting a catheter through the cervix to collect a sample of cells from the membrane (chorion) covering the gestational sac.  Amniocentesis can be performed as early as 14 weeks by inserting a needle through the maternal abdomen and uterus to sample the amniotic fluid.  These procedures are invasive and rare risks include infection, bleeding, and miscarriage.