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.

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

Next Page >>