Beckwith-Wiedemann syndrome presenting with an elevated triple screen in the second trimester of pregnancy.

BACKGROUND

Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally.

CASE: A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilical cord and prominent maternal ovaries. The patient developed HELLP syndrome at 28 weeks and delivered a viable female infant with distinct clinical features. The diagnosis of BWS was confirmed by hypermethylation of the H19 gene on chromosome 11p15.5.

CONCLUSION

This case describes a novel presentation of BWS and underscores the diagnostic potential of routine prenatal screens.