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基因组筛查时代中国预防出生缺陷的研究需求。

Research needs for birth defect prevention and control in China in the genomic screening era.

机构信息

Human Phenome Institute, Institute of Medical Genetics and Genomics, Zhangjiang Fudan International Innovation Center, MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

出版信息

BMJ. 2024 Aug 30;386:e078637. doi: 10.1136/bmj-2023-078637.

DOI:10.1136/bmj-2023-078637
PMID:39214555
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11359722/
Abstract

emphasise the importance of prioritising vital research questions in genomic testing to empower prevention strategies for birth defects in China

摘要

强调优先考虑基因组检测中重要的研究问题的重要性，以加强中国出生缺陷预防策略

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95bf/11359722/d4fec798aac3/anyu078637.f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95bf/11359722/d4fec798aac3/anyu078637.f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95bf/11359722/d4fec798aac3/anyu078637.f1.jpg

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Nat Med. 2024 Feb;30(2):330-333. doi: 10.1038/s41591-023-02744-3.
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Perinatal prevalence of birth defects in the Mainland of China, 2000-2021: a systematic review and meta-analysis.中国内地 2000-2021 年围产儿出生缺陷发生率：系统评价和荟萃分析。
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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
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J Hum Genet. 2025 Feb;70(2):113-119. doi: 10.1038/s10038-024-01307-9. Epub 2024 Nov 25.
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Women's health in China in the era of growing rights and falling fertility.权利增长与生育率下降时代的中国女性健康。
BMJ. 2024 Aug 30;386:q1774. doi: 10.1136/bmj.q1774.
Shariant 平台：实现澳大利亚临床基因检测实验室之间的证据共享，以支持变异解释。
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Hum Mutat. 2022 Aug;43(8):1012-1030. doi: 10.1002/humu.24309. Epub 2021 Dec 16.
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Prevention and Control of Birth Defects in China: Achievements and Challenges.中国出生缺陷的预防与控制：成就与挑战
China CDC Wkly. 2021 Sep 10;3(37):771-772. doi: 10.46234/ccdcw2021.191.
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