Prenatal findings on ultrasound and X-ray in a case of overgrowth syndromeassociated with increased nuchal translucency

A case of prenatal diagnosis of an overgrowth syndrome at 30 weeks of gesta tion is reported. The diagnosis was suggested on the basis of increased fet al growth from 16 weeks onwards, advanced bone age, and characteristic faci al features such as hypertelorism, broad forehead and small chin. The fetus presented at 12 weeks with a markedly increased nuchal translucency thickn ess and generalized skin edema, but normal karyotype. Serial ultrasound sca ns revealed brain abnormalities including mild unilateral ventriculomegaly and a cyst in the cavum septi pellucidi. The pregnancy was terminated at th e parents' request at 32 weeks of gestation and postmortem examination conf irmed the prenatal findings. This case demonstrates the possibility of pren atal diagnosis of early overgrowth syndromes and highlights the dilemma ari sing from the prenatal diagnosis of a non-lethal condition associated with an uncertain prognosis and poorly documented in utero. Copyright (C) 2001 J ohn Wiley & Sons, Ltd.