Increased fetal nuchal translucency as a sole clue in the prenatal diagnosis of a fetus with trisomy 13.

摘要

Trisomy 13 is a fatal chromosomal abnormality. A body of literature supports the assessment of fetal nuchal translucency as an adjunct in the prenatal diagnosis of trisomy 13. Over 90% of affected fetuses are readily diagnosed by ultrasound, as they present typical sonographic features; however, there is no consensus regarding trisomy 13 showing normal second trimester sonographic findings. We report an interesting case of trisomy 13, demonstrating increased nuchal translucency as an apparently isolated prenatal sonographic finding.