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.


METHODS
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.


CONCLUSIONS
This case describes a novel presentation of BWS and underscores the diagnostic potential of routine prenatal screens.
Aagaard-Tillery
Kjersti M
KM
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Minnesota, Minneapolis, USA.
Buchbinder
Alan
A
Boente
Mathew P
MP
Ramin
Kirk D
KD
D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D000509:alpha-Fetoproteins / Q000378:metabolism
D000509:alpha-Fetoproteins