Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
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 ultra...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2024-01-01
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| Series: | American Journal of Perinatology Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1776149 |
| _version_ | 1827375780072521728 |
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| author | Amna Iftikhar Kathleen Barnes Melissa Figueroa Antonia P. Francis |
| author_facet | Amna Iftikhar Kathleen Barnes Melissa Figueroa Antonia P. Francis |
| author_sort | Amna Iftikhar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T11:57:01Z |
| format | Article |
| id | doaj.art-048bd1c0d77e499e8002d60937dcf73e |
| institution | Directory Open Access Journal |
| issn | 2157-6998 2157-7005 |
| language | English |
| last_indexed | 2024-03-08T11:57:01Z |
| publishDate | 2024-01-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | American Journal of Perinatology Reports |
| spelling | doaj.art-048bd1c0d77e499e8002d60937dcf73e2024-01-23T23:34:35ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052024-01-011401e31e3310.1055/s-0043-1776149Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case ReportAmna Iftikhar0Kathleen Barnes1Melissa Figueroa2Antonia P. Francis3Department of Obstetrics and Gynecology, Hackensack University Medical Center, Hackensack, New JerseyCenter for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New JerseyDivision of Family Planning, Hackensack University Medical Center, Hackensack, New JerseyDivision of Obstetrics and Gynecology, Department of Maternal Fetal Medicine, Hackensack University Medical Center, Hackensack, New JerseyCornelia 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1776149Cornelia de Lange's syndromeprenatal diagnosiswhole-exome sequencingprenatal ultrasoundcohesinopathies |
| spellingShingle | Amna Iftikhar Kathleen Barnes Melissa Figueroa Antonia P. Francis Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report American Journal of Perinatology Reports Cornelia de Lange's syndrome prenatal diagnosis whole-exome sequencing prenatal ultrasound cohesinopathies |
| title | Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report |
| title_full | Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report |
| title_fullStr | Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report |
| title_full_unstemmed | Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report |
| title_short | Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report |
| title_sort | early prenatal diagnosis of cornelia de lange s syndrome with whole exome sequencing a case report |
| topic | Cornelia de Lange's syndrome prenatal diagnosis whole-exome sequencing prenatal ultrasound cohesinopathies |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1776149 |
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