Beckwith-Wiedemann syndrome, placental abnormalities, and gestational proteinuric hypertension.

BACKGROUND

Beckwith-Wiedemann syndrome is a genetically complex congenital disorder with variable clinical features at birth, including malformations, excessive body and/or organ growth, and endocrine dysfunction. Both maternal gestational proteinuric hypertension and placental abnormalities have been reported infrequently in Beckwith-Wiedemann syndrome, but the occurrence of three cases with both features at one institution within a year suggests that this may be an underreported association.

METHODS

Severe gestational proteinuric hypertension in three women led to termination of one pregnancy at 22 weeks' gestation, delivery by cesarean in another at 27 weeks of an infant who had hyperinsulinism and died at age 3 days, and stillbirth at 31 weeks in the third. All three infants had features diagnostic of Beckwith-Wiedemann syndrome. Placentomegaly had been identified by ultrasound in each case and was determined pathologically as mainly attributable to stromal expansion of the villous tree. Cysts resulting from hydrops in stem villi were identified ultrasonographically in one placenta; this lesion may be specific for Beckwith-Wiedemann syndrome. The third placenta was associated with a discrete complete hydatidiform mole.

CONCLUSIONS

A diagnosis of Beckwith-Wiedemann syndrome should be considered in all cases in which gestational proteinuric hypertension is associated with ultrasound findings of placentomegaly, with or without associated cystic changes in the placenta, and an examination should be made for other confirmatory features.