Prenatal Diagnosis

Prenatal diagnosis or prenatal screening (note that "Prenatal Diagnosis" and "Prenatal Screening" refer to two different types of tests) is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic diseases and other conditions, such as spina bifida, cleft palate, Tay Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome. Screening can also be used for prenatal sex discernment. Common testing procedures include amniocentesis, ultrasonography including nuchal translucency ultrasound, serum marker testing, or genetic screening. In some cases, the tests are administered to determine if the fetus will be aborted, though physicians and patients also find it useful to diagnose high-risk pregnancies early so that delivery can be scheduled in a tertiary care hospital where the baby can receive appropriate care.

Fetal screening has also been done to determine characteristics generally not considered birth defects, and avail for e.g. sex selection. The rise of designer babies and parental selection for specific traits raises a host of bioethical and legal issues that will dominate reproductive rights debates in the 21st century.

Read more about Prenatal Diagnosis:  Invasiveness, Fetal Versus Maternal, Reasons For Prenatal Diagnosis, Methods of Prenatal Screening and Diagnosis, Advances in Prenatal Screening, Typical Screening Sequence