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目前唐氏综合征和其他胎儿异常的产前筛查方法。

Current methods of prenatal screening for Down syndrome and other fetal abnormalities.

作者信息

Saller Devereux N, Canick Jacob A

机构信息

Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Virginia, Charlottesville, VA 22908, USA.

出版信息

Clin Obstet Gynecol. 2008 Mar;51(1):24-36. doi: 10.1097/GRF.0b013e318160f274.

DOI:10.1097/GRF.0b013e318160f274
PMID:18303497
Abstract

Prenatal diagnosis of Down syndrome is widely available, but the determination of which patients should undergo prenatal diagnosis is changing. With the recent acceptance of first-trimester and integrated screening as a part of routine clinical practice, there are now a variety of accepted screening protocols for Down syndrome and other aneuploidies. These choices can be confusing both to both patients and providers. The following discussion is meant to outline the various options in prenatal screening, and their individual advantages and disadvantages.

摘要

唐氏综合征的产前诊断已广泛开展,但关于哪些患者应接受产前诊断的判定标准正在发生变化。随着早孕期筛查和综合筛查最近被纳入常规临床实践,目前有多种被认可的唐氏综合征及其他非整倍体的筛查方案。这些选择可能会让患者和医疗服务提供者都感到困惑。以下讨论旨在概述产前筛查的各种选项及其各自的优缺点。

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Current methods of prenatal screening for Down syndrome and other fetal abnormalities.目前唐氏综合征和其他胎儿异常的产前筛查方法。
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An Older Woman in Early Pregnancy: What Antenatal Screening is Appropriate?一位早孕的老年女性:何种产前筛查是合适的?
Malays Fam Physician. 2008 Dec 31;3(3):137-9. eCollection 2008.
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Rapid aneuploidy detection or karyotyping? Ethical reflection.快速非整倍体检测还是核型分析?伦理反思。
Eur J Hum Genet. 2011 Oct;19(10):1020-5. doi: 10.1038/ejhg.2011.82. Epub 2011 Jun 1.
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Information and decision support needs of parents considering amniocentesis: interviews with pregnant women and health professionals.考虑羊膜穿刺术的父母的信息和决策支持需求:对孕妇和卫生专业人员的访谈。
Health Expect. 2010 Jun;13(2):125-38. doi: 10.1111/j.1369-7625.2009.00544.x.
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Non-invasive prenatal testing: ethical issues explored.非侵入性产前检测:伦理问题探讨。
Eur J Hum Genet. 2010 Mar;18(3):272-7. doi: 10.1038/ejhg.2009.203. Epub 2009 Dec 2.
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Parental-age effects in Down syndrome.唐氏综合征中的父母年龄效应。
J Genet. 2009 Apr;88(1):1-7. doi: 10.1007/s12041-009-0001-6.