Trisomy 10: ultrasound features and natural history after first trimester diagnosis

We report on the ultrasound features and natural history of trisomy 10. At 12 weeks' gestation in a routine scan examination, the fetus presented with increased nuchal translucency thickness, mild skin oedema, bilateral pleur al effusion, marked micrognathia, cardiomegaly, unilateral talipes and reve rsed A-wave in the ductus venosus blood flow. Karyotyping on chorionic vill us sampling (CVS) led to the diagnosis of trisomy 10, which was confirmed b y fetal blood sampling at 22 weeks' gestation. As the parents opted to cont inue with the pregnancy, the natural history and following ultrasound featu res are described. This is the third case of trisomy 10 in the literature r eporting on the physical features. The most frequent ultrasound findings pr esented in trisomy 10 are increased nuchal translucency, microgranathia, re nal agenesis, facial cleft, limb abnormalities, cardiac defects and early s evere growth retardation. Copyright (C) 2001 John Wiley & Sons, Ltd.