新生儿基因组检测

IF 1.1 4区医学 Q3 PEDIATRICS

Archives of Disease in Childhood-Education and Practice Edition Pub Date : 2024-11-21 DOI:10.1136/archdischild-2023-326716

Jessica Salkind, Alison Mintoft, Giles Kendall, Tazeen Ashraf

引用次数: 0

摘要

最近的技术进步扩大了新生儿疑似罕见遗传病的检测范围，尤其是在高收入医疗机构。本文总结了主要的基因组检测方法、其适应症和潜在的局限性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Genomic testing in neonates.

Recent technological advances have led to the expansion of testing options for newborns with suspected rare genetic conditions, particularly in high-income healthcare settings. This article summarises the key genomic testing approaches, their indications and potential limitations.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Archives of Disease in Childhood-Education and Practice Edition 医学-小儿科

CiteScore

1.70

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Archives of Disease in Childhood is an international peer review journal that aims to keep paediatricians and others up to date with advances in the diagnosis and treatment of childhood diseases as well as advocacy issues such as child protection. It focuses on all aspects of child health and disease from the perinatal period (in the Fetal and Neonatal edition) through to adolescence. ADC includes original research reports, commentaries, reviews of clinical and policy issues, and evidence reports. Areas covered include: community child health, public health, epidemiology, acute paediatrics, advocacy, and ethics.