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

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.

American journal of medical genetics. Part A - 1 Jul 2026

Feng Zhanke, Liu Wenxin, Li Huanyun, Wu Shitong, Zhou Runying, Chen Xiaohang, Yao Yingxin, Kong Xiangdong

Abstract excerpt

Evaluate the application efficacy of trio exome sequencing (Trio-ES) in prenatal families with a history of developmental delay/intellectual disability (DD/ID). This cohort study enrolled prenatal families with a family history of DD/ID from a single center between January 2020 and May 2025. We included 104 prenatal families that had excluded copy number variation abnormalities but had not undergone single...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to DNA Copy Number Variations

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

Share to Exome Sequencing

Share to Genetic Testing

Share to Intellectual Disability

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 41795174
DOI: 10.1002/ajmg.a.70111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 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

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.PMID 41795174Read ↗

Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental DisordersSemantic proximity Read ↗

Lessons learnt from prenatal exome sequencingSemantic proximity Read ↗

Trio exome sequencing is highly relevant in prenatal diagnosticsSemantic proximity Read ↗

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.Semantic proximity Read ↗

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern ChinaSemantic proximity Read ↗

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomaliesSemantic proximity Read ↗

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolSemantic proximity Read ↗

Clinical use of whole exome sequencing in children with developmental delay/intellectual disabilitySemantic proximity Read ↗

The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective StudySemantic proximity Read ↗

[Whole exome sequencing analysis and prenatal diagnosis in children with neurodevelopmental disorders].Semantic proximity Read ↗

Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic DiagnosisSemantic proximity Read ↗

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderSemantic proximity Read ↗

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