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What does the amniocentesis test look for?
Amniocentesis detects chromosome abnormalities, neural tube defects and genetic disorders. Down syndrome or Trisomy 21 is the most common chromosome abnormality. Genetic disorders include disorders like cystic fibrosis. The most common neural tube defect is spina bifida.
Amniocentesis is occasionally used late in pregnancy to assess whether the baby's lungs are mature enough for the baby to breathe on his own.
Amniocentesis also provides access to DNA for paternity testing prior to delivery. DNA is collected from the potential father and is compared to DNA obtained from the baby during amniocentesis. The results are accurate (99%) for determining paternity.
What are the risks and side effects to the mother or baby?
Although amniocentesis is considered to be a safe procedure, it is recognized as an invasive diagnostic test that does pose potential risks. According to the Mayo Clinic, it is performed approximately 200,000 times a year.
Miscarriage is the primary risk related to amniocentesis. The risk of miscarriage ranges from 1 in 400 to 1 in 200. In facilities where amniocentesis is performed regularly, the rates are closer to 1 in 400. Miscarriages can occur because of infection in the uterus, the water breaks or labor is induced prematurely.
Although extremely rare, it is possible for the needle to come in contact with the baby. Great precautions are taken by using a sonogram to guide the needle away from the baby.
The mother may experience a sharp pain when the needle enters the skin and again when it enters the uterus. Following completion of the procedure, the mother may experience other side effects that include:
Leakage of fluid
Minor irritation around the puncture site