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
› Institutsangaben
Funding None.

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.



Publikationsverlauf

Eingereicht: 14. September 2021

Angenommen: 08. August 2023

Artikel online veröffentlicht:
23. Januar 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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  • References

  • 1 De Lange C. Sur un type nouveau de degenerescence (typus Amsterlodamensis). Arch Med (Oviedo) 1933; 36: 713-719
  • 2 Kline AD, Grados M, Sponseller P. et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2007; 145C (03) 248-260
  • 3 Kline AD, Moss JF, Selicorni A. et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet 2018; 19 (10) 649-666
  • 4 Barisic I, Tokic V, Loane M. et al; EUROCAT Working Group. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A 2008; 146A (01) 51-59
  • 5 Qiao F, Zhang C, Wang Y. et al. Case report: prenatal whole-exome sequencing to identify a novel heterozygous synonymous variant in NIPBL in a fetus with Cornelia de Lange syndrome. Front Genet 2021; 12: 628890
  • 6 Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993; 47 (07) 940-946
  • 7 Cascella M, Muzio MR. Cornelia de Lange Syndrome. Treasure Island, FL: StatPearls Publishing; 2021
  • 8 Avagliano L, Parenti I, Grazioli P. et al. Chromatinopathies: a focus on Cornelia de Lange syndrome. Clin Genet 2020; 97 (01) 3-11
  • 9 Qiao F, Zhang C, Wang Y. et al. Case report: prenatal whole-exome sequencing to identify a novel heterozygous synonymous variant in NIPBL in a fetus with Cornelia de Lange syndrome. Front Genet 2021; 12: 628890
  • 10 Clark DM, Sherer I, Deardorff MA. et al. Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A 2012; 158A (08) 1848-1856
  • 11 Dempsey MA, Knight Johnson AE, Swope BS. et al. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenat Diagn 2014; 34 (02) 163-167
  • 12 Zhang H, Yang LM, Yuan L, Tan X, Zhang FQ. A new mutation identified by whole exome sequencing in a Cornelia de Lange syndrome newborn. Chin Med J (Engl) 2018; 131 (19) 2384-2385