有创产前诊断

DeckerMed Obstetrics and Gynecology Pub Date : 2020-04-08 DOI:10.2310/OBG.19130

Kimberly Zayhowski

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引用次数: 0

摘要

尽管最近遗传技术的进步使侵入性产前诊断不太常见，羊膜穿刺术和绒毛膜绒毛取样(CVS)仍然是产前护理的一个组成部分。可以使用从这两种方法中收集的样本进行多种测试，包括各种基因测试。虽然侵入性检测有局限性，但许多遗传疾病只能在怀孕期间通过侵入性技术进行诊断。侵入性检测继续帮助患者和提供者做出关于怀孕护理的知情决定。这篇综述详细介绍了羊膜穿刺术和绒毛膜绒毛取样，重点是基因检测，描述了为什么要进行这些检测，检测的方式，以及相关的局限性和并发症。本文综述了5张图、3张表和26篇参考文献。关键词:产前诊断，羊膜穿刺术，绒毛膜绒毛取样，基因检测，遗传咨询，有创产前检测，妊娠，非整倍体

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Invasive Prenatal Diagnosis

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures. This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

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DeckerMed Obstetrics and Gynecology

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