Prenatal Diagnostic Testing

Insight Medical Genetics offers prenatal diagnostic testing for chromosome abnormalities in pregnant patients.

Chromosome abnormalities are genetic changes that usually occur when an egg or sperm is formed. Most of the time, an embryo gets one copy of each chromosome from the mother through her egg and the other copy of each chromosome from the father through his sperm. Sometimes, the egg or sperm are not formed correctly and the pregnancy has an extra or missing copy of one of the chromosomes; this is called aneuploidy. Prenatal diagnostic testing helps us detect aneuploidy and allows us to provide patients with genetic health information about their pregnancy.

Chorionic Villus Sampling (CVS)

One type of prenatal diagnostic testing that we offer is chorionic villus sampling (CVS). This test, performed between 10 and 14 weeks of pregnancy, is diagnostic for chromosome or genetic abnormalities. Placental tissue, called chorionic villi, is expected to have the same genetic makeup as the developing child; we remove a small sample for observation and analysis in the lab.

Amniocentesis

Another type of prenatal diagnostic testing that Insight offers is amniocentesis. Amniocentesis involves removing a small amount of amniotic fluid to test for chromosome aneuploidies or other genetic abnormalities in fetal cells. This test usually takes place during or after the 15th week of pregnancy.