Diagnostic procedures are performed to get a sample for genetic testing. Once a sample is available, genetic tests can be performed on it.
We perform two types of diagnostics procedures:
1. Chorionic Villus Sampling (CVS)
Chorionic villus sampling can be done between 11 and 13 weeks of pregnancy. It involves inserting a long thin needle (guided by an ultrasound) into the uterus through the mother’s abdomen to get tissue samples of chorionic villi (microscopic growths that make up much of the placenta). The tissue samples can then be tested for genetic concerns. CVS can also be done through the cervix using a small tube.
Amniocentesis can be done any time after 16 weeks. It involves inserting a long thin needle (guided by ultrasound) into the uterus through the mother’s abdomen to take a small sample of amniotic fluid (the water that surrounds the baby). The amniotic fluid can then be tested for genetic concerns. This procedure is very accurate for diagnosing Down syndrome, spina bifida and other chromosomal abnormalities.