Article

Whole Exome Sequencing Aids The Diagnosis of Fetal Skeletal Dysplasia

2020-07-28

Abstract excerpt

<h4>Background: </h4> Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical and genetical heterogeneousity. Several types have prenatal phenotypes. And it is difficult to make a molecular diagnosis rapidly due to lacking family history and non-specific and limited clinical symptoms in utero. This study aims to diagnose 16 Chinese fetuses with skeletal dysplasia. <h4>Methods: </...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cdd900de-2052-55c4-9cc1-390f4f7ac791
DOI: 10.21203/rs.3.rs-46976/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Whole Exome Sequencing Aids The Diagnosis of Fetal Skeletal DysplasiaDOI 10.21203/rs.3.rs-46976/v1Read

Analysis of Correlation Between Whole Exome Sequencing and Ultrasound Examinationin Prenatal Diagnosis of Fetal Skeletal Dysplasia Semantic proximity Read

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome SequencingSemantic proximity Read

Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.Semantic proximity Read

Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in ChinaSemantic proximity Read

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wu Han, China Semantic proximity Read

Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort studySemantic proximity Read

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, ChinaSemantic proximity Read

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 casesSemantic proximity Read

Application of whole-exome sequencing technology in clarifying 269 cases of fetal skeletal system disordersSemantic proximity Read

The Diagnostic Value of Whole Exome Sequencing in Prenatal Fetal Structural Anomalies: A Study Based on the North-Central Region of GuangxiSemantic proximity Read

Diagnostic yield of exome sequencing in fetuses with skeletal dysplasia: systematic review and meta-analysisSemantic proximity Read

Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.Semantic proximity Read