Suppr超能文献

染色体疾病:全球范围内基线出生患病率及妊娠结局的评估

Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide.

作者信息

Moorthie Sowmiya, Blencowe Hannah, Darlison Matthew W, Gibbons Stephen, Lawn Joy E, Mastroiacovo Pierpaolo, Morris Joan K, Modell Bernadette

机构信息

PHG Foundation, 2 Worts Causeway, Cambridge, UK.

Centre for Maternal, Adolescent, Reproductive, and Child Health, London School of Hygiene and Tropical Medicine, London, UK.

出版信息

J Community Genet. 2018 Oct;9(4):377-386. doi: 10.1007/s12687-017-0336-2. Epub 2017 Sep 26.

Abstract

Chromosomal disorders, of which Down syndrome is the most common, can cause multi-domain disability. In addition, compared to the general population, there is a higher frequency of death before the age of five. In many settings, large gaps in data availability have hampered policy-making, programme priorities and resource allocation for these important conditions. We have developed methods, which overcome this lack of data and allow estimation of the burden of affected pregnancies and their outcomes in different settings worldwide. For example, the methods include a simple equation relating the percentage of mothers 35 and over to Down syndrome birth prevalence. The results obtained provide a starting point for consideration of services that can be implemented for the care and prevention of these disorders.

摘要

染色体疾病中最常见的是唐氏综合征,它可导致多领域残疾。此外,与普通人群相比,五岁前死亡的频率更高。在许多情况下,数据可用性方面的巨大差距阻碍了针对这些重要病症的政策制定、项目优先级确定和资源分配。我们已经开发出一些方法,这些方法克服了数据缺失的问题,并能够估计全球不同地区受影响妊娠及其结果的负担。例如,这些方法包括一个简单的等式,将35岁及以上母亲的百分比与唐氏综合征的出生患病率联系起来。所获得的结果为考虑可实施的用于这些疾病的护理和预防服务提供了一个起点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28d9/6167258/3636bc3ff315/12687_2017_336_Fig1_HTML.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验