Chorionic Villus Sampling

Chorionic villus sampling is a crucial tool in prenatal genetic diagnostic testing, typically performed between 10 and 13 weeks of gestation. Unlike screening tests, which estimate the risk of a genetic condition, chorionic villus sampling provides a definitive diagnosis by analyzing placental tissue for chromosomal abnormalities and specific genetic disorders. This early diagnostic capability is critical, as approximately 1 in 150 live births is affected by a chromosomal abnormality, and timely information can significantly impact the course of prenatal care. One of the primary advantages of chorionic villus sampling is its ability to deliver diagnostic results weeks earlier than amniocentesis, which is typically performed after 15 weeks of gestation. This earlier timeline provides pregnant patients with critical information during the first trimester, when more options are available for clinical decision-making. Early diagnosis through chorionic villus sampling can inform decisions regarding the continuation or termination of pregnancy. If termination is considered, having results in the first trimester allows access to earlier and safer procedures, which carry fewer medical risks and are often associated with reduced emotional and psychological burden. Based on chorionic villus sampling results, patients may choose to seek further genetic counseling, plan for specialized obstetric management, or pursue early referrals to pediatric subspecialists who can assist in preparing for potential neonatal interventions or long-term care needs.