Amniocentesis

What is an Amniocentesis?

Amniocentesis is a procedure where a small amount of amniotic fluid (fluid surrounding the developing baby) is removed from the uterus through a thin needle, using ultrasound guidance. This procedure is typically performed during 15 to 20 weeks of pregnancy. Different tests can be done on amniotic fluid, the most common tests are listed below:

  • Chromosome analysis to detect chromosome abnormalities such as Down syndrome, which is caused by an extra copy of chromosome 21. Individuals with Down Syndrome have three copies (trisomy) instead of the normal two copies of this particular chromosome.
  • AFP (alpha-fetoprotein) and AChE measurements to detect neural tube defects, such as spina bifida and anencephaly. In spinal bifida there is an opening in the back/spinal cord, usually requiring multiple surgeries, and may be associated with physical disabilities.
  • Genetic diseases that can be diagnosed prenatally, including cystic fibrosis, fragile X syndrome, hemophilia, sickle cell disease, thalassemia, and Tay-Sachs disease.

Who Should Consider having Amniocentesis?

  • Women who will be 35 years or older at the time of delivery. The risk of having a child with Down syndrome or other chromosome abnormalities increases with increasing maternal age.
  • Either parent is a carrier of a chromosomal rearrangement
  • Previous child with chromosome abnormality
  • Parents are carriers of a prenatally diagnosable genetic disorder
  • Women with abnormal ultrasound findings
  • Women with abnormal prenatal maternal serum screening test
  • Family history of neural tube defects or medication exposure

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