Prenatal Testing

Prenatal testing 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, and fragile x syndrome. Screening can also determine the sex of the fetus. Common testing procedures include amniocentesis, sonograms, 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.

Diagnostic prenatal testing can be by invasive or non-invasive methods. An invasive method involves probes or needles being inserted into the placenta, e.g. amniocentesis, which can be done from about 14 weeks gestation, and usually up to about 20 weeks, and chorionic villus sampling, which can be done earlier (between 9.5 and 12.5 weeks gestation) but which is slightly more risky to the fetus. Non-invasive methods, called "screens", can only evaluate risk of a condition and cannot determine 100% if the fetus has a condition. Non-invasive techniques include examinations of the woman's womb through ultrasonography and maternal serum screens (i.e. Alpha-fetoprotein). Non-invasive genetic tests for Down syndrome, Trisomy 18, and Trisomy 13 fetal DNA present in maternal blood are in development.[1] If an elevated risk of chromosomal or genetic abnormality is indicated by a non-invasive screening test, a more invasive technique may be employed to gather more information. In the case of neural tube defects, a detailed ultrasound can non-invasively provide a definitive diagnosis.

Fetal screening has also been done to determine characteristics generally not considered birth defects. In some parts of the world, if a fetus is determined to be female, it is sometimes aborted. 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.

Prenatal Testing
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