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Amniocentesis

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The amniotic fluid is analyzed in the lab for the amount of alpha-fetoprotein (AFP) in the fluid, which can indicate neural tube defects such as spina bifida or anencephaly. Some of the baby's cells are also allowed to grow in the lab for a week or two and then tested for chromosomal abnormalities and genetic birth defects. Results are usually available in two weeks. Amniocentesis has an accuracy rate greater than 99 percent in diagnosing chromosomal abnormalities.

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Amniocentesis and CVS test for most of the same disorders, although CVS cannot diagnose neural tube defects. The procedures also have different levels of risk, timing, reliability and waiting time for results.

Even if you would never consider terminating your pregnancy if your baby were shown to have a chromosomal or genetic birth defect, finding out before birth can help you and your partner prepare emotionally. You may also choose to switch to a hospital that is better equipped to care for your baby, and your delivery team can also prepare for your baby's birth and any procedures that may need to be done. Certain disorders can even be treated before birth, such as biotin dependence and MMA (methylmalonic academia) which are both extremely rare, but life-threatening if left untreated.

Some insurance plans cover amniocentesis and other prenatal tests, especially for women over 35 years of age. You may need a referral from your doctor or pre-authorization from your health plan for your health insurance to cover the procedure. The cost to the patient or insurance company averages about $1500; however, the price varies in different areas.

The decision to have an amniocentesis is a personal one that must be made after all the options, risks and benefits have been considered. Talk to your doctor and a genetic counselor to determine what is best for you and your baby.

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