Early detection of structural anomalies and markers of chromosomal aberrations by transvaginal ultrasonography

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Abstract
Transvaginal ultrasonography is emerging as the newest method for the early detection of structural malformations and markers of chromosomal aberrations. According to a multicenter registry on the onset of fetal anomalies, many defects are potentially detectable at an early transvaginal scan. Moreover, cystic hygroma and other nuchal signs thought to indicate a very significant risk for a genetic problem detected during the first trimester may resolve and not be detected at the later abdominal scan. Current research presented in this review indicates a possible transition from an abdominal scan at 18-22 weeks to two scans: an early transvaginal scan at 12-14 weeks for the detection of gross congenital anomalies and markers of chromosomal aberrations, and then an abdominal scan at 22 weeks for cardiac and other anomalies.

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