相关实验视频

Updated: Aug 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

评估全外测序测试的临床实用性和策略,对胎儿增加的鼻透光度

Fan Zhou1, Mei Yang1, Zhu Zhang1

  • 1Department of Medical genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.

American journal of obstetrics and gynecology
|May 17, 2025
PubMed
概括

全外体序列测序 (WES) 提供了10.42%的诊断收益率,用于胎儿的单基性疾病,增加了部透光度 (NT) 和正常的染色体微阵列分析. 将WES与表型数据相结合,为诊断胎儿疾病提供了最佳的策略.

关键词:
染色体异常是一种染色体异常.增加了上半透明度.单一性疾病的单一性疾病.产前诊断 在产前诊断.整体外因子测序的测序

更多相关视频

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy00:09

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.3K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.0K

相关概念视频

Development of the Oral Microbiota01:28

Development of the Oral Microbiota

The establishment of the oral microbiome begins before birth, challenging the long-held belief that the fetal oral cavity is sterile. The presence of oral microbes such as Streptococcus and Fusobacterium in amniotic fluid suggests that microbial exposure may occur in utero, potentially through translocation from the maternal oral or gastrointestinal tract. This early colonization primes the neonatal immune system and sets the stage for subsequent microbial succession. Maternal health,...