Chorionic Villus Sampling

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Subject: Chorionic Villus Sampling

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Definition

  • Invasive procedure to obtain chorionic villus tissue generally performed between 10 and 12 weeks of gestation. Procedural risk of fetal loss (higher than for amniocentesis): approximately 1%.

Use

  • Provides placental material for chromosome (cytogenetic) testing, biochemical testing (metabolic disorders/inborn errors of metabolism), and molecular DNA-based testing for inherited disease (e.g., cystic fibrosis, fragile X).

  • Primary advantage over amniocentesis is earlier time frame, allowing pregnancy termination in the first trimester or earlier relief of anxiety.

Limitations

  • Chromosome results may be ambiguous due to confined placental mosaicism (abnormal chromosome line limited to placental tissue) in approximately 2% of cases, requiring follow-up by amniocentesis

  • Maternal cell contamination must be avoided for accurate diagnosis based on fetal chromosomes, enzyme assay, or DNA analysis

  • Does not provide material to screen for neural tube defects

 
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