Prenatal Genetic Testing

A diagnostic test to screen for chromosome abnormalities and inherited disorders. A sample of amniotic fluid is collected through an ultrasound guided needle inserted into the amniotic sac. The amniotic fluid is sent to a laboratory for analysis.

CVS is a diagnostic test to screen for chromosome abnormalities and inherited disorders by analyzing the chorionic villi cells from the placenta. The placenta cells are collected either transcervically, using an ultrasound guided catheter inserted through the cervix to gently suction the cells, or transabdominally, through a long thin needle inserted into the placenta through the abdomen.

Support provided by a genetic professional or qualified physician to the patient and the doctor by identifying genetic risk, discussing family history, explaining available testing options and implications of test results, as well as providing patient education. Genetic counselors or qualified physicians, act as patient advocates translating medical and scientific knowledge into practical information. In addition, resources are available to provide support to anyone who may be at risk for a variety of inherited conditions or birth defects, such as cystic fibrosis or disorders common to a particular race or ethnic group. This information is provided in a non-directive, unbiased manner and allows the patient to make their own decisions regarding testing options.

Antenatal or prenatal diagnostic screening, refers to a variety of testing options available to determine if a fetus has certain abnormalities. Many of the tests are conducted by an obstetrician (OB) as routine prenatal screening, including ultrasound, nuchal translucency screening and testing of a pregnant woman's blood to help estimate the risk of certain abnormalities. When a test indicates a higher risk, additional tests are available to further analyze the fetus. These additional tests, such as amniocentesis and chronic villus sampling, are often more invasive and have additional risks to the fetus and should be conducted by a maternal-fetal medicine (MFM) specialist.