Down Syndrome

Down syndrome, also known as trisomy 21, is a congenital disorder caused by the presence of an extra #21 chromosome. Most cases are not inherited, but family history of Down syndrome can increase the risk. Individuals with Down syndrome have varying degrees of mental retardation, characteristic physical appearance, as well as physical problems, such as heart defects.

Testing options for Down syndrome

• Afp4^® Screening
• Amniocentesis/Amniotic Fluid Testing
• Chorionic Villi Sampling (CVS)
• FirstScreen^®
• IntegratedScreen^SM
• SequentialScreen^SM
• SerumIntegratedScreen^SM

View Test Comparison Chart (PDF)
Compare testing periods, detection rates and risks for screening and diagnostic testing options.

MyTestingOptions.com will continue to add more testing options as they become available through Genzyme. Email me when more testing options are added to this website.