Question

What is 'amniocentesis'? Name any two disorders that can be detected by amniocentesis.

Answer 1

It is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.

Amniocentesis is used for diagnosis of chromosomal and other fetal problems such as:

• Down syndrome (trisomy 21)
  
• Trisomy 13
  
• Trisomy 18
  
• Fragile X
  
• Rare inherited metabolic disorders
  
• Neural tube defects (anencephaly and spina bifida) by alpha-fetoprotein levels.