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第262号——双胎妊娠非整倍体的产前筛查与诊断

No. 262-Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies.

作者信息

Audibert François, Gagnon Alain

机构信息

Montreal, QC.

Vancouver, BC.

出版信息

J Obstet Gynaecol Can. 2017 Sep;39(9):e347-e361. doi: 10.1016/j.jogc.2017.06.015.

Abstract

OBJECTIVE

To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies.

OPTIONS

The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy.

OUTCOMES

Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins.

EVIDENCE

PubMed and Cochrane Database were searched for relevant English and French language articles published between 1985 and 2010, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis, twin gestation). Results were restricted to systematic reviews, randomized controlled trials, and relevant observational studies. Searches were updated on a regular basis and incorporated in the guideline to August 2010. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The previous Society of Obstetricians and Gynaecologists of Canada guidelines regarding prenatal screening were also reviewed in developing this clinical practice guideline.

VALUES

The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).

BENEFITS, HARMS, AND COSTS: There is a need for specific guidelines for prenatal screening and diagnosis in twins. These guidelines should assist health care providers in the approach to this aspect of prenatal care of women with twin pregnancies.

SUMMARY STATEMENTS

RECOMMENDATIONS.

摘要

目的

提供一份加拿大共识文件,针对双胎妊娠中胎儿非整倍体(如唐氏综合征和18三体综合征)的产前筛查和诊断给出建议。

选项

双胎妊娠的产前筛查和诊断过程复杂。本文回顾了可供孕妇选择的筛查和诊断方法,以及双胎妊娠筛查和诊断所特有的挑战。

结果

临床医生将更好地了解双胎妊娠中不同筛查方法的准确性以及双胎侵入性产前诊断技术。

证据

检索了PubMed和Cochrane数据库,查找1985年至2010年间发表的相关英文和法文文章,使用了适当的受控词汇和关键词(非整倍体、唐氏综合征、三体、产前筛查、遗传健康风险、遗传健康监测、产前诊断、双胎妊娠)。结果仅限于系统评价、随机对照试验和相关观察性研究。检索定期更新,并纳入截至2010年8月的指南。通过搜索卫生技术评估及与卫生技术评估相关机构的网站、临床实践指南汇编、临床试验注册库以及国家和国际医学专业学会,识别灰色(未发表)文献。在制定本临床实践指南时,还回顾了加拿大妇产科医师协会先前关于产前筛查的指南。

价值观

使用加拿大预防保健工作组报告中描述的标准对证据质量进行评级(表1)。

益处、危害和成本:需要针对双胎妊娠产前筛查和诊断的具体指南。这些指南应有助于医疗保健提供者对双胎妊娠妇女进行这方面的产前护理。

总结声明

建议。

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