Prenatal Testing

Prenatal testing is used to detect birth defects and other problems with a pregnancy as early as possible, and comprises both prenatal screening, which estimates the likelihood of a condition, and prenatal diagnosis, which confirms it. It can detect conditions such as neural tube defects, chromosome abnormalities and gene mutations underlying disorders including spina bifida, cleft palate, Down syndrome, trisomy 18, Tay-Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy and fragile X syndrome, while other tests, such as PAPP-A screening or a glucose tolerance test, are designed to catch problems primarily affecting the health of the mother, such as preeclampsia. Prenatal testing is a broad umbrella term for this family of screening and diagnostic approaches, of which amniocentesis and chorionic villus sampling are two specific diagnostic procedures.