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产前诊断与基因筛查——融入产前保健

Prenatal diagnosis and genetic screening--integration into prenatal care.

作者信息

Rappaport Valerie J

机构信息

Division of Maternal Fetal Medicine, Dept of Ob/Gyn, University of New Mexico School of Medicine, Albuquerque, NM 87131, USA.

出版信息

Obstet Gynecol Clin North Am. 2008 Sep;35(3):435-58, ix. doi: 10.1016/j.ogc.2008.05.002.

Abstract

In the last 3 decades, perinatal medicine has made tremendous advances in scientific knowledge and in the successful application of this knowledge toward understanding the fetal aspects of pregnancy. Evaluation of the health of the fetus and screening for birth defects has become an important part of prenatal care. This article provides an overview of birth defects and the various screening methods for diagnosing birth defects before birth. It also discusses the role of preconception genetic screening.

摘要

在过去的三十年里,围产期医学在科学知识以及将这些知识成功应用于理解孕期胎儿情况方面取得了巨大进展。评估胎儿健康和筛查出生缺陷已成为产前护理的重要组成部分。本文概述了出生缺陷以及在出生前诊断出生缺陷的各种筛查方法。它还讨论了孕前基因筛查的作用。

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