Amniocentesis is a procedure in which a small sample of the amniotic fluid is taken from the amniotic sac. The amniotic sac is the fluid-filled bag that surrounds the unborn child in the uterus of a pregnant woman. It has cells floating in the fluid that have the same genetic makeup as the baby.
A woman may wish to have an amniocentesis done if: she will be 35 years old or older when her baby is bornshe or the father of the baby has had a child with a chromosomal abnormalityshe or the father has a family history of a serious chromosomal abnormalitythe baby might have a serious problem passed on to one gender only, such as muscular dystrophyshe wants to find out if her baby has a serious health problem that can be detected by examining its genesshe has had two or more miscarriages
An amniocentesis may also be offered to a woman who has an abnormal alpha fetoprotein blood test result. A high level of AFP may indicate a neural tube defect, such as spina bifida. A low level can indicate the presence of Down syndrome.
Amniocentesis can detect many disorders in an unborn child, including: cystic fibrosis, a condition in which abnormal body secretions cause problems in the lungs and digestive systemDown syndrome, which causes mental retardation and health problemsneural tube defects, such as spina bifidaphenylketonuria, or PKU, which interferes with the body's ability to handle certain food componentssickle cell anemia, a condition in which abnormal red blood cells interfere with many body processesTay-Sachs disease, which causes blindness, loss of function, and early death
Amniocentesis is usually performed 15 to 18 weeks after the woman has missed a period. A chorionic villus sampling is a similar procedure that involves taking a sample of the fluid in the sac surrounding the unborn child. It is done several weeks earlier in the pregnancy.
Amniocentesis is occasionally done in the third trimester, toward the end of the pregnancy. It may be done at this time for the following reasons: to see if the baby's lungs are mature enough for deliveryto diagnose uterine infections, especially if the woman's membranes have ruptured earlyto measure any anemia in the baby caused by Rh incompatibilityto see if the baby needs blood transfusions
Shortly before the procedure, the woman will be asked to fill her bladder. The full bladder helps the healthcare provider see the pelvic organs with a pregnancy ultrasound. A local anesthetic is used to numb a small area on the woman's abdomen. The provider uses the ultrasound to guide the insertion of a thin needle. A small amount of amniotic fluid is withdrawn and sent to the lab for testing.