Chromosome Abnormalities

A normal human cell has 46 chromosomes. A missing or an extra chromosome, or piece of a chromosome, interferes with normal development.

Many chromosomal abnormalities can lead to serious physical birth defects, mental retardation or both. The most common chromosome abnormalities are Down syndrome, trisomy 18, and trisomy 13.

Testing options for Chromosome Abnormalities

• 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.