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

Telangana TsbieTelangana Board of Intermediate Education 2025Subjective· 2mImportance★★★★★
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Amniocentesis is a prenatal diagnostic technique that examines a sample of amniotic fluid to detect genetic and chromosomal disorders in the foetus.

Amniocentesis is a foetal-sex and biochemical/cytogenetic test in which a small amount of amniotic fluid, which surrounds the developing foetus in the amniotic sac and contains foetal cells and metabolic by-products, is withdrawn by a fine needle inserted through the mother's abdominal wall, usually around 15-18 weeks of pregnancy.

The amniotic fluid and the foetal cells present in it are analysed for:

  • Chromosome number and structure (karyotyping), which reveals chromosomal aneuploidies.
  • Biochemical composition, which can indicate certain metabolic or genetic disorders.

Because the sex chromosome complement (and hence the sex of the foetus) can also be determined this way, amniocentesis was historically misused for sex-selective abortion of female foetuses in India; this misuse is now legally banned under the PCPNDT Act (Pre-Conception and Pre-Natal Diagnostic Techniques Act), and the test is legally permitted only for detecting genetic abnormalities.

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