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游离胎儿DNA的临床应用:科学现状

Clinical Applications of Fetal Cell-Free DNA: State of the Science.

作者信息

Knutson Julie, Anthony Kathryn, Russo Melissa L, Kole-White Martha B

机构信息

Division of Academic Midwifery, Alpert Medical School of Brown University, Women & Infants Hospital, Providence, Rhode Island.

Department of Obstetrics and Gynecology, Alpert Medical School of Brown University, Women & Infants Hospital, Providence, Rhode Island.

出版信息

J Midwifery Womens Health. 2024 Nov-Dec;69(6):836-846. doi: 10.1111/jmwh.13674. Epub 2024 Jul 25.

Abstract

Advances in technology have correlated with expanding prenatal genetic testing options for pregnant people. Leading medical organizations recommend cell-free DNA as the most sensitive screening test for trisomies 13, 18, and 21, as well as for fetal sex chromosome aneuploidies. The commercially available testing options go beyond these recommended tests, and prenatal care professionals should be familiar with the tests that their patients may choose despite being beyond the scope of current medical recommendations. This article explains updates in cell-free DNA technology and clinical considerations for prenatal care professionals, recognizing that this is a rapidly changing field of science and health care.

摘要

技术进步与孕妇可选择的产前基因检测不断增加相关。主要医学组织推荐无细胞DNA作为对13、18和21三体以及胎儿性染色体非整倍体最敏感的筛查检测。市面上可获得的检测选项超出了这些推荐检测,产前护理专业人员应熟悉其患者可能选择的检测,尽管这些检测超出了当前医学推荐的范围。本文解释了无细胞DNA技术的更新以及产前护理专业人员的临床考量,认识到这是一个快速变化的科学和医疗保健领域。

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