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

被引：0

作者：

Iftikhar, Amna ^{[1
,5
]}

Barnes, Kathleen ^{[2
]}

Figueroa, Melissa ^{[3
]}

Francis, Antonia P. ^{[4
]}

机构：

[1] Hackensack Univ, Dept Obstet & Gynecol, Med Ctr, Hackensack, NJ USA

[2] Hackensack Univ, Med Ctr, Ctr Genet & Genom Med, Hackensack, NJ USA

[3] Hackensack Univ, Div Family Planning, Med Ctr, Hackensack, NJ USA

[4] Hackensack Univ, Dept Maternal Fetal Med, Div Obstet & Gynecol, Med Ctr, Hackensack, NJ USA

[5] Hackensack Univ, Dept Obstet & Gynecol, Med Ctr, 20 Prospect Ave Suite 805, Hackensack, NJ 07601 USA

来源：

AJP REPORTS | 2024年 / 14卷 / 01期

关键词：

Cornelia de Lange's syndrome; prenatal diagnosis; whole-exome sequencing; prenatal ultrasound; cohesinopathies; DE-LANGE-SYNDROME;

D O I：

10.1055/s-0043-1776149

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：E31 / E33

页数：3

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