Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report

AJP Rep. 2024 Jan 23;14(1):e31-e33. doi: 10.1055/s-0043-1776149. eCollection 2024 Jan.


Cornelia de Lange's syndrome (CDLS) is a multisystem genetic syndrome characterized by well-defined physical, intellectual, and behavioral characteristics. The diagnosis of CDLS is typically done clinically after birth; however, recent studies have demonstrated the ability to use prenatal ultrasound and whole-exome sequencing to diagnose CDLS prenatally. Here we present a prenatal case in which multiple fetal anomalies were identified on ultrasound at 20 weeks of gestation. Use of whole-exome sequencing allowed for successful diagnosis of CDLS in this fetus prenatally.

Keywords: Cornelia de Lange's syndrome; cohesinopathies; prenatal diagnosis; prenatal ultrasound; whole-exome sequencing.

Publication types

  • Case Reports

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