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CC BY-NC-ND 4.0 · AJP Rep 2024; 14(01): e31-e33
DOI: 10.1055/s-0043-1776149
Case Report

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

Amna Iftikhar
1   Department of Obstetrics and Gynecology, Hackensack University Medical Center, Hackensack, New Jersey
,
Kathleen Barnes
2   Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey
,
Melissa Figueroa
3   Division of Family Planning, Hackensack University Medical Center, Hackensack, New Jersey
,
Antonia P. Francis
4   Division of Obstetrics and Gynecology, Department of Maternal Fetal Medicine, Hackensack University Medical Center, Hackensack, New Jersey
› Author Affiliations Funding None.
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Abstract

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 - prenatal diagnosis - whole-exome sequencing - prenatal ultrasound - cohesinopathies


Publication History

Received: 14 September 2021

Accepted: 08 August 2023

Article published online:
23 January 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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