Skip to content

[Expert consensus on the diagnosis, exclusion, and follow-up for newborns with positive genetic screening results by next-generation sequencing (2026 Edition)].

Sep 2026 · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · Vol 43 9, pp. 641-656 · 0 citations
Medicine

TL;DR

The aim is to provide standardized and practical guidance for neonatal genetic screening, promote standardized and efficient screening practices, improve early diagnosis rates for genetic diseases, further optimize follow-up and management strategies, and improve the prognosis of patients.

View source

Similar papers

Review Open access Oct 2026

Genetic Testing: Basic Principles for the Pediatrician

In this review, we describe current genetic testing modalities available for pediatricians, provide guidance on test selection and result interpretation, and inform providers on proper genetic testing consent practices. For each type of genetic test, details regarding types of mutations detected, limitations, and commo...

Jonathan B. Trapani, John A. Phillips, Scott K. Ward · 0 citations
Review Open access Oct 2026

Healthcare professionals' views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study.

Therapeutic advances and the rapid, cost-effective development of next-generation sequencing (NGS) have increased interest in expanding newborn screening (NBS) through genomics. The SeDeN-p2 study assessed the acceptability among healthcare professionals in France, of expanding NBS, particularly with genetics as a firs...

Camille Level, Frédéric Huet, Dominique Salvi et al. · 0 citations
Open access Sep 2026

Precision Health Genetic Screening: Protocol and results categories for a clinical population genetic screening program.

As PGS programs monitor their clinical outcomes, it will be important to categorize both positive and negative results in terms that reflect the underlying chance of a monogenic condition, to identify potential participants for whom clinical diagnostic testing would have been warranted, and reduce the potential for fal...

Kimberly S. Foss, R. Phillips, Kristine J. Kuczynski et al. · 0 citations
Review Open access Aug 2026

Genetic Approach in Diagnosis and Follow-Up of Patients with Thalassemia: A Comprehensive Narrative Review

A tiered, genotype-informed approach—combining HPLC/CE phenotyping, targeted molecular diagnostics, genetic modifier profiling, and periodic re-evaluation—optimizes diagnostic precision and guides individualized management across the thalassemia spectrum.

Ashraf T. Soliman, F. Alyafei, Nada Alaaraj et al. · 0 citations
Review Open access Sep 2026

The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia

Newborn screening (NBS) is an essential public health intervention for early detection and secondary prevention of inherited disorders in asymptomatic infants at birth. Advances in this field and the accessibility of new screening methods and therapies in the last decade have insurmountably surpassed Malaysia’s nationa...

E. J. Khoo, M. Thong, Sin-Chuen Yong et al. · 0 citations
Open access Sep 2026

Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients

WES effectively detects multiple variant types providing crucial insights for precise diagnosis, management, and genetic counseling in children with complex phenotypes, providing crucial insights for precise diagnosis, management, and genetic counseling in children with complex phenotypes.

Min-Jun Zhao, Fu-Wei Li, Xiang-Peng Lu et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.