Diagnosis of fetal chromosomal abnormalities requires invasive testing by amniocentesis or chorionic villous sampling (CVS). This include ultrasound of the uterus, placenta, and/or developing fetus, chorionic villus sampling (CVS) to obtain tissue for chromosome or biochemical analysis; and amniocentesis to obtain amniotic fluid for the analysis of chromosomes, enzymes, or DNA.

• FISH
• Carryotyping with Amniotic Fluid and Chorionic Villi Sampling.