Early diagnosis and treatment- Amniocentesis

 

NEET PG High-Yield: Amniocentesis

Amniocentesis is a vital tool for Secondary Prevention (Early Diagnosis). It involves the aspiration of amniotic fluid for genetic and biochemical analysis.

Key Procedural Details

  • Timing: Traditionally performed at 15–18 weeks of gestation.
  • Technique: Ultrasound-guided transabdominal aspiration of amniotic fluid.
  • Safety: Low risk of procedure-related miscarriage (approximately 0.5%).

Indications for Analysis

Category Analysis Type
Chromosomal Karyotyping for Down syndrome ($Trisomy\ 21$), other aneuploidies.
Biochemical Alpha-fetoprotein (AFP) levels for neural tube defects.
Genetic PCR/FISH for specific monogenic disorders (e.g., Cystic fibrosis).
High-Yield NEET PG Pearls:

  • Comparison: Chorionic Villus Sampling (CVS) can be done earlier (10–12 weeks) but carries a slightly higher risk of limb reduction defects.
  • Rh-Immunization: Anti-D immunoglobulin must be administered to Rh-negative mothers undergoing the procedure to prevent sensitization.
  • Amniotic Fluid: Contains fetal cells (amniocytes) shed from skin and respiratory/urinary tracts, which are cultured for chromosomal analysis.