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

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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.

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch

Bibliographic citation
Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report ; volume:14 ; number:01 ; year:2024 ; pages:e31-e33
AJP reports ; 14, Heft 01 (2024), e31-e33

Contributor
Iftikhar, Amna
Barnes, Kathleen
Figueroa, Melissa
Francis, Antonia P.

DOI
10.1055/s-0043-1776149
URN
urn:nbn:de:101:1-2024030711061995877461
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:56 AM CEST

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Associated

  • Iftikhar, Amna
  • Barnes, Kathleen
  • Figueroa, Melissa
  • Francis, Antonia P.

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