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Amniocentesis

Amniocentesis is an optional prenatal test that can reveal important information about your baby before he or she is born. It is often performed during the second trimester of pregnancy (usually between 15 and 20 weeks) to test for some of the most common chromosomal and genetic birth defects, including Down Syndrome, cystic fibrosis, sickle cell disease, Tay-Sachs, Huntington's disease, spina bifida and anencephaly. It can also be used later in pregnancy to assess anemia in babies with Rh disease, to determine if your baby's lungs are mature enough for early delivery if you are experiencing preterm labor or must deliver early for another reason, and to determine whether you have an infection (if your water has broken early) or if your doctor suspects you may have one.

When testing for birth defects, amniocentesis is usually only offered to women who have certain risk factors, including:

  • If they will be 35 years or older on their due date.
  • Another test - such as a multiple marker screen, a nuchal fold scan, or CVS - indicated the baby is at a higher risk for a problem.
  • They have previously been pregnant with a child with a birth defect.
  • They have or the baby's father has a chromosomal abnormality or genetic disorder or a family history that increases the risk that the child will have one too.

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Before you have an amniocentesis, you should discuss with a genetic counselor all the risks and benefits associated with the test. While the incidence of problems resulting from an amniocentesis is rare, miscarriage does occur in approximately one in 200 to 400 cases, and there is a slight risk of uterine infection (less than one in 1,000) that can sometimes lead to miscarriage.

If you decide to have an amniocentesis, your doctor will first do an ultrasound to measure your baby and locate a pocket of amniotic fluid that is safely away from your baby. He or she will clean your abdomen with alcohol and then, under constant ultrasound monitoring, will insert a long hollow needle through your abdomen and into your amniotic sac and withdraw an ounce or two of amniotic fluid. You may feel a slight pinching, pressure, or cramping during the procedure, although some women feel nothing at all.

Afterwards, your doctor will check your baby's heartbeat to ensure everything is normal. You should take it easy for the rest of the day and avoid strenuous activity for the next two days. You may continue to experience mild cramping, which is normal; however, if you have significant cramping, vaginal spotting or bleeding, develop a fever, or if you begin leaking amniotic fluid, contact your doctor immediately as these may be signs of infection or impending miscarriage.

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