Abstract:

Objective To improve infant outcomes and guide treatment decisions, early and accurate diagnosis of congenital abnormalities during pregnancy is crucial. Despite its excellent accuracy, chorionic villus sampling (CVS) has procedural dangers; sonography offers a non-invasive, safer substitute. With an emphasis on clinical value, safety, and diagnostic accuracy, this evaluation assesses how well sonography performs in identifying congenital diseases prior to 12 weeks of gestation when compared to CVS.
Methods A comprehensive review of the literature was conducted using databases such as Web of Science, PubMed, and Scopus. Studies published between 2015 and 2024 that examined the diagnostic sensitivity, specificity, and accuracy of sonography and CVS for congenital illness identification were included.
Results With a sensitivity of 85-90%, sonography shows excellent accuracy in identifying anatomical abnormalities such organ malformations and nuchal translucency. Although CVS has a 0.5-1% chance of miscarriage, it is still the gold standard for identifying chromosomal abnormalities with an accuracy of around 99%. Combining the two modalities reduces hazards while improving diagnostic accuracy.
Conclusion For low-risk populations in particular, sonography provides a dependable, non-invasive screening method for congenital abnormalities prior to 12 weeks. For high-risk instances that need genetic investigation, CVS is advised. Integration of both approaches could optimize prenatal diagnostic protocols.

Key words: Sonography; Chorionic villus sampling; Congenital disorders; Prenatal screening; First trimester