PRENATAL ULTRASONOGRAPHIC AND MOLECULAR DIAGNOSIS OF APERT-SYNDROME

Apert syndrome is a rare craniosynostosis syndrome with significant bi lateral syndactyly of the hands and feet. Usually it is detected by ul trasonography during the third trimester unless there is a family hist ory. We present an interesting sporadic case with features consistent with Apert syndrome detected as early as the first trimester. A first- trimester ultrasound evaluation prior to chorionic villus sampling (CV S) for maternal age 41 was within normal limits except for the suggest ion of a 'mitten-like' hand and proximally placed thumb. Mid-trimester ultrasound was not diagnostic; however, following the development of polyhydramnios in the third trimester, the evaluation of the digits an d facial features were strongly suggestive of Apert syndrome. Amniocen tesis was performed and a molecular diagnosis of Apert syndrome was ma de and confirmed on cord blood. (C) 1997 by John Wiley & Sons, Ltd.