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Abnormal karyotypes and CMA results in nine fetuses with hydronephrosis.

NIAID Data Ecosystem2026-05-02 收录

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https://figshare.com/articles/dataset/Abnormal_karyotypes_and_CMA_results_in_nine_fetuses_with_hydronephrosis_/29131581 数据链接链接失效反馈

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资源简介：

Abnormal karyotypes and CMA results in nine fetuses with hydronephrosis.

应用场景：

创建时间：

2025-05-22

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

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

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome

产前基因诊断

基因表达谱分析

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome

ChEBI2014-06-13 更新00

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

Table_1_Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis.DOCX

遗传病基因突变

产前基因诊断

Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF re

NIAID Data Ecosystem20

Abnormal karyotypes and CMA results in nine fetuses with hydronephrosis.

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