Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple

Abstract

Objective: To report a child with Beckwith-Wiedemann syndrome (BWS) born after assisted reproductive technology (ART) to an HIV serodiscordant couple.

Design: Case report.

Setting: Academic medical center.

Patient(s): A child with BWS born after ART to an HIV serodiscordant couple.

Intervention(s): Assisted reproductive techniques.

Main outcome measure(s): ART and HIV.

Result(s): Since 2003, it has been suggested that there is an association between ART and BWS, which is a congenital overgrowth syndrome characterized by macrosomia, macroglossia, visceromegaly, umbilical and abdominal wall abnormalities, and an increased risk of developing embryonal tumors in childhood. It is a multigenic disorder resulting from genetic or epigenetic alterations of genes on chromosome 11p15. Methylation errors account for 50%-60% of sporadic cases and almost 100% of cases born after ART. We report the birth of a child diagnosed with BWS arising from an ART cycle to an HIV serodiscordant couple with no history of infertility. This case cannot constitute conclusive evidence but it raises various questions.

Conclusion(s): Assisted reproductive technology seems to be in the causal pathway but a male/female factor or an iatrogenic factor is also possible.