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Updated: Jul 19, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
Beckwith-Wiedemann syndrome presenting with an elevated triple screen in the second trimester of pregnancy
Kjersti M Aagaard-Tillery1, Alan Buchbinder, Mathew P Boente
1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Minnesota, Minneapolis, USA.
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.
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