Disease: Amniocentesis

Amniocentesis facts

  • Amniocentesis may be performed for chromosome analysis or the detection of genetic defects and conditions in the fetus.
  • Pregnant women over the age of 35 years are candidates for amniocentesis to detect chromosomal abnormalities in the fetus.
  • Amniocentesis can also be used to determine the maturity of the lungs of the fetus or the cause of unknown fever in the mother.
  • For genetic testing, chromosome analysis, and the evaluation of an abnormal alpha feto protein test, amniocentesis is usually performed between the 15th and 20th weeks of pregnancy.
  • The risk of fetal loss from the amniocentesis procedure is less than 1%.

What is amniocentesis?

Amniocentesis is a procedure whereby a sample of fluid is removed from the amniotic sac for analysis. The amniotic sac is in the uterine cavity. The amniotic sac is the fluid-filled structure inside a pregnant woman's uterus within which the baby lives. Fetal cells, proteins, and fetal urine freely move within this sac.

During amniocentesis, fluid is removed by placing a long needle through the abdominal wall into amniotic sac. Sometimes, the woman's skin is injected first with a local anesthetic, but this is not usually necessary. The amniocentesis needle is typically guided into the sac with the help of ultrasound imaging performed either prior to or during the procedure. Once the needle is in the sac, a syringe is used to withdraw the clear amber-colored amniotic fluid, that resembles urine. The volume of fluid withdrawn depends upon the age of the fetus and the reason for the testing.

The fluid can then be sent for evaluation of fetal lung maturity, genetic evaluation, evidence of spina bifida (a birth defect in spinal cord development) or other neural-tube defects, the presence of infection, or chromosome analysis. Chromosomes are structures that contain all of the genetic information in our cells. The amniotic fluid contains numerous free-floating fetal cells that can be grown in a laboratory. When these cells multiply and reach a certain number, their chromosomes are extracted and analyzed. It takes about two weeks to perform chromosome analysis. The fluid also contains proteins, minerals and other compounds that can be tested, and these studies may take 1 to 7 days to perform. Data obtained from amniotic fluid can help women make informed decisions regarding their pregnancies and babies.

For most patients, amniocentesis is a fairly quick and comfortable procedure. Some women experience some uterine cramping or a feeling of faintness.

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 intellectual disabilities 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 the 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 a possible early 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.

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 intellectual disabilities 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 the 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 a possible early 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.

Source: http://www.rxlist.com

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