The abnormal pregnancy outcomes of 13 fetuses with CNVs.

NIAID Data Ecosystem2026-05-10 收录

产前基因诊断

胎儿异常妊娠结局

数据链接：

https://figshare.com/articles/dataset/The_abnormal_pregnancy_outcomes_of_13_fetuses_with_CNVs_/30159982 数据链接链接失效反馈

官方服务：

资源简介：

The abnormal pregnancy outcomes of 13 fetuses with CNVs.

创建时间：

2025-09-18

CHD7 mutation in a prenatal case of CHARGE syndrome

产前基因诊断

CHARGE综合征

Fetal exome sequencing was performed on a fetus with a variety of ultrasound and MRI findings and it revealed the presence of the novel c.2836-3C>G splicing mutation in CHD7 (Likely Pathogenic). CHARG

NIAID Data Ecosystem70

Homo sapiens (human blood) Genome sequencing. Homo sapiens

产前基因诊断

家庭三重测序

The genome sequence data of NIPD trio #1, including the genome sequencing of the father (PB), mother (blood cell), the offspring (cord blood) and the maternal plasma at GW of 13.

NIAID Data Ecosystem40

Supplementary Material for: Evaluating the implementation of the rapid prenatal exome sequencing (pES) service in England

产前基因诊断

医疗系统评估

Introduction In October 2020, a national rapid prenatal exome sequencing (pES) service was rolled out across the English National Health Service (NHS). This service is delivered by multiple clinical a

NIAID Data Ecosystem30

Table_2_A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.xlsx

产前基因诊断

遗传病检测

Background: Array comparative genomic hybridization (aCGH), karyotyping and fluorescence in situ hybridization (FISH) analyses have been used in a clinical cytogenetic laboratory. A systematic analysi

NIAID Data Ecosystem50

Homo sapiens Genome sequencing and assembly. Homo sapiens

产前基因诊断

染色体三体

This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing (NIPT)

NIAID Data Ecosystem40