Last updated: 11/24/2009

The word amniocentesis literally means "puncture of the amnion," the thin-walled sac of fluid in which a developing fetus is suspended during pregnancy. During the procedure, the obstetrician inserts a very fine needle through the woman's abdomen into...

the uterus and amniotic sac and withdraws approximately 1 oz (28.3 g) of amniotic fluid for testing. The relatively painless procedure is performed on an outpatient basis, sometimes using local anesthesia.

The physician uses ultrasound images to guide needle placement and collect the sample, thereby minimizing the risk of fetal injury and the need for repeated needle insertions. Once the sample is collected, the woman can return home after a brief observation period. She may be instructed to rest for the first 24 hours and to avoid heavy lifting for two days.

The sample of amniotic fluid is sent to a laboratory where fetal cells contained in the fluid are isolated and grown in order to provide enough genetic material for testing. This takes about seven to 14 days. The material is then extracted and treated so that visual examination for defects can be made. For some disorders, like Tay-Sachs, the simple presence of a telltale chemical compound in the amniotic fluid is enough to confirm a diagnosis. Depending on the specific tests ordered, and the skill of the lab conducting them, all the results are available one to four weeks after the sample is taken.

Cost of the procedure depends on the doctor, the lab, and the tests ordered. Most insurers provide coverage for women over 35, as a follow-up to positive maternal blood screening results, and when genetic disorders run in the family.

An alternative to amnio, now in general use, is chorionic villus sampling (CVS), which can be performed as early as the eighth week of pregnancy. While this allows for the possibility of a first trimester abortion, if warranted, CVS is apparently also riskier and is more expensive. The most promising area of new research in prenatal testing involves expanding the scope and accuracy of maternal blood screening as this poses no risk to the fetus.