Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.

Scientific reports - 7 Aug 2017

Ma Dingyuan, Yuan Yuan, Luo Chunyu, Wang Yaoshen, Jiang Tao, Guo Fengyu, Zhang Jingjing, Chen Chao, Sun Yun, Cheng Jian, Hu Ping, Wang Jian, Yang Huanming, Yi Xin, Wang Wei, Asan, Xu Zhengfeng

Abstract excerpt

Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD). Noninvasive prenatal diagnosis (NIPD) of 21-OHD was based on 14 plasma samples collected from 12 families, including four plasma sample collected during the first trimester. Targeted capture sequencing was performed using genomic DNA from the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Cost-Benefit Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Diagnostic Techniques

Share to Plasma

Share to Prenatal Diagnosis

Share to Sequence Analysis, DNA

Share to Steroid 21-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 28785026
DOI: 10.1038/s41598-017-06828-2
PMCID: PMC5547133

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.PMID 28785026Read ↗

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.Semantic proximity Read ↗

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.Semantic proximity Read ↗

Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms.Semantic proximity Read ↗

Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencingSemantic proximity Read ↗

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.Semantic proximity Read ↗

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.Semantic proximity Read ↗

Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.Semantic proximity Read ↗

Analysis of fetal fraction in non-invasive prenatal testing with low-depth whole genome sequencingSemantic proximity Read ↗

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, ChinaSemantic proximity Read ↗

New developments in prenatal diagnosis of congenital adrenal hyperplasia.Semantic proximity Read ↗

Application of an optimized non-invasive prenatal testing for thalassemia based on change of haplotype doses.Semantic proximity Read ↗

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.