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

Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population

24 Jun 2025

Abstract excerpt

OBJECTIVE: Expanded carrier screening (ECS) enables proactive identification of at-risk couples (ARCs) and individuals, facilitating informed reproductive decision-making through genetic counseling. This study evaluates the clinical utility of ECS among the population in Anhui Province, China, where its implementation remains understudied. Retrospectively analysis of genetic testing results assessed the carrier...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis Research Advances
Share to Dialysis and Renal Disease Management
Share to Genetic and Kidney Cyst Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40553156
DOI: 10.1007/s00404-025-08100-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese populationPMID 40553156Read ↗

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individualsSemantic proximity Read ↗

Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.Semantic proximity Read ↗

Preconception Expanded carrier screening for reproductive risk assessment: Prevalence of carrier status in chinaSemantic proximity Read ↗

Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in ChinaSemantic proximity Read ↗

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central ChinaSemantic proximity Read ↗

Comprehensive expanded carrier screening using next-generation sequencing in Southern Chinese couplesSemantic proximity Read ↗

The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.Semantic proximity Read ↗

Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.Semantic proximity Read ↗

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couplesSemantic proximity Read ↗

Clinical application value of expanded carrier screening in the population of childbearing ageSemantic proximity Read ↗

Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general populationSemantic proximity Read ↗

[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age].Semantic proximity Read ↗

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