Prenatal diagnosis: The Amniocentesis Test

Amniocentesis, or an amniotic fluid test (AFT), is a prenatal test that is used to diagnose chromosomal and genetic birth defects.

Generally, amniocentesis can detect the following disorders and defects:

  • Edwards syndrome,
  • Down syndrome,
  • Patau syndrome,
  • Turner syndrome,
  • Klinefelter syndrome,
  • Mucoviscidosis,
  • Sickle-cell disease,
  • Tay-Sachs disease,
  • Neural tube defects, such as Spina bifida and Anencephaly.

Amniocentesis has been proven to be 99% accurate in diagnosing the above conditions.

Amniocentesis is usually performed between 15 and 20 weeks of pregnancy.

Using ultrasound as a guide, the doctor extracts 30ml of the amniotic fluid by inserting a thin needle through the mother’s abdomen and uterus.

The procedure usually takes about 3-5 minutes and is not painful.

Once the amniotic fluid is removed it is being tested. Generally it takes 2-3 weeks to get the result.

Amniocentesis is an elective procedure, as it has a small risk of miscarriage (1 in 300 or less). It is usually recommended for women older than 35 and those who may have an increased risk of chromosomal or genetic birth defects.

 

 

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