Prenatal Screening and Testing Options

All pregnancies are at risk of having a fetus (unborn baby) with a chromosome abnormality, genetic condition or birth defect.

• The risk of chromosome abnormalities is related to the woman’s age, the risk increasing with age
• The risk of genetic condition depends upon the family history and ethnic background. Certain genetic conditions are more common in certain ethnic groups (e.g. cystic fibrosis in Caucasians, Tay-Sachs disease in Eastern European Jews, sickle cell disease in African Americans). In many of these conditions, screening tests of the parents are available to determine a couple’s risk of having a child with the genetic condition.
• Approximately 3 to 4 out of every 100 babies have a major birth defect.

There are several screening and diagnostic testing options available to pregnant women. Your options will depend on how far along you are in your pregnancy. If you are in the first trimester (less than 12 weeks gestation), you may choose to have first trimester screening, chorionic villus sampling (CVS), Quad screening, Integrated screening or amniocentesis. If you are over 13 weeks gestation, your options are Quad screening or an amniocentesis. You may decide to decline all genetic screening and testing.

Click here to estimate the gestational age of your pregnancy.

If you decide to have prenatal testing then your next step is to decide if you want prenatal screening or diagnostic testing. A screening test estimates the chance (risk) of the fetus having a certain birth defect/genetic condition. A diagnostic test will determine whether a fetus actually has a certain birth defect/genetic condition.

Screening Tests	Diagnostic Tests
First Trimester Screening Quad Screening Integrated Screening	Chorionic Villus Sampling (CVS) Amniocentesis

Each test has certain advantages and disadvantages. Click on the links above for a brief description of each of the testing options. You should review your options and discuss any questions you have with your prenatal care provider.

You may decide to decline all prenatal testing during your pregnancy. Some of the advantages of that decision include:

• Avoiding the anxiety that may occur with an abnormal screening test result
• Avoiding the risks associated with diagnostic testing (chorionic villus sampling and amniocentesis)

There are disadvantages to declining prenatal testing:

• You would not have time to prepare for the birth of an infant with special needs if the fetus had a detectable genetic condition or birth defect
• Necessary tests and/or treatments would not be performed during the pregnancy if the genetic condition or birth defect is not detected until after birth

Genetic counseling is available to women at increased risk of carrying a fetus with a chromosome abnormality, birth defect or genetic condition. Please contact your healthcare provider if you are interested in being referred for genetic counseling to discuss your prenatal screening and testing options.

Click here for more information.