Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
In this Article
- What is amniocentesis?
- Who is a candidate for amniocentesis?
- What does amniocentesis show?
- When should amniocentesis be performed?
- Is amniocentesis safe?
- Amniocentesis At A Glance
- Find a local Obstetrician-Gynecologist in your town
Who is a candidate for amniocentesis?
Women over the age of 35 have an increased chance of carrying a baby with chromosomal abnormalities. Therefore, the current recommendation is that women who will be age 35 or older at the time of delivery consider having an amniocentesis for fetal chromosome testing. Chromosomal abnormalities in the fetus can lead to mental retardation or other birth defects as seen with Down's syndrome. The possibility of having a baby with a chromosomal defect increases with the age of the mother.
- At age 35 the chance is about 1 in 178.
- By age 40, the rate increases to 1 in 63.
- By age 48, the ratio is 1 in 8.
- For women younger than 35, the risk of complications as a result of amniocentesis may outweigh the possibility that the baby has a chromosomal abnormality (see below,
"Is Amniocentesis Safe?").
- After 35, the chance of carrying a baby with a chromosomal abnormality may be more common than experiencing the complications associated with this procedure.
If there is a family history of chromosomal problems or history of prior births in which a chromosomal problem was found, amniocentesis may be recommended. However, the exact benefit of amniocentesis in these situations is uncertain. Many chromosomal defects may not reappear in subsequent pregnancies, and genetic counseling can help a woman decide whether amniocentesis would be of value in these situations.
What does amniocentesis show?
Amniocentesis is very accurate in detecting chromosomal abnormalities and the gender of the fetus. Occasionally, the fetal cells harvested by amniocentesis do not grow in culture and no chromosome data can be obtained. Additionally, the doctor occasionally is unable to extract fluid from the uterus during amniocentesis due to a variety of technical reasons. In both instances, the procedure can be repeated.
Amniocentesis testing for lung maturity can help the doctor make decisions regarding timing of delivery for women in premature labor, or those with diabetes or other medical conditions requiring delivery. Lung maturity testing is not perfect. In rare instances, a baby is born with apparently mature lungs but still experiences difficulty breathing.
The AFP (alpha feto protein) blood test is currently available and can be used to screen for neural tube defects such as spina bifida and Down's syndrome. An elevated AFP blood level may indicate the possibility that the fetus has a defect in brain and spinal cord development. A low AFP level may indicate the potential for Down's syndrome. When abnormal levels of AFP are found, further evaluation with ultrasound and amniocentesis can be done to look for birth defects and chromosomal abnormalities.
Amniocentesis can also help determine if there are specific genetic problems present in the fetus. Testing for Tay-Sachs disease, cystic fibrosis, sickle cell anemia, and other inherited disorders can be performed on samples of amniotic fluid. Checking the cells for specific genes can now be done on the fetal cell cultures. It is also possible to look for a specific protein in the amniotic fluid that can signal a genetic abnormality. Testing for genetic (inherited) diseases is not routinely performed, but is available.
Another common reason for performing amniocentesis is to determine if the fetal lungs are mature enough so that the baby can be safely delivered before the due date. If the fetal lungs are not mature, an attempt can be made to stop premature labor with medications. If the lung tissues are mature, it may be safe for the premature baby to be born. This test can also help in the timing of delivery when the due date is uncertain.
Occasionally, a pregnant woman may have a fever without an obvious site of infection. In these instances, an amniocentesis may be performed to determine if the cause of the mother's fever is from an intrauterine infection, when the source of the infection is unclear.
The overall possibility of birth defects in any pregnancy is approximately 3%. For defects such as cleft lip, hernia, and extra fingers or toes, there are no prenatal screening tests and amniocentesis will not be of benefit. Ultrasound is the only helpful test in detecting these defects in the fetus.
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