Navigation of Prenatal Care With Sex Discordance Between Cell-free DNA and Ultrasound Findings.

IF 1.4 4区医学 Q3 OBSTETRICS & GYNECOLOGY

Clinical obstetrics and gynecology Pub Date : 2023-09-01 DOI:10.1097/GRF.0000000000000802

Laurie B Griffin, Meghan McCarthy, Melissa L Russo

引用次数: 0

Abstract

The utilization of cell-free DNA (cfDNA) screening has expanded rapidly across the age spectrum of pregnant persons. With cfDNA's widespread adoption, genetic fetal sex is now often known before a phenotypic assessment on anatomic survey. CfDNA detects sex discordance in 1/1500 to 2000 pregnancies. Upon detection of sex discordance, lab error or other factors should first be assessed. Once other causes have been ruled out, this may indicate an underlying disorder/difference in sex development. A multidisciplinary team should coordinate diagnosis, treatment, and support for the family. This review discusses the diagnostic workup, emphasizing the multidisciplinary counseling and management of disorder/differences in sex development.

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无细胞DNA与超声结果性别差异的产前护理导航。

利用无细胞DNA (cfDNA)筛选已迅速扩大整个年龄范围的孕妇。随着cfDNA的广泛采用，胎儿的基因性别现在通常在解剖调查的表型评估之前就知道了。CfDNA在1/1500到2000次怀孕中检测到性别不一致。一旦发现性别不一致，首先应评估实验室错误或其他因素。一旦排除了其他原因，这可能表明潜在的性发育障碍/差异。多学科团队应协调诊断、治疗和对家庭的支持。这篇综述讨论了诊断检查，强调多学科咨询和管理的障碍/性别发育差异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical obstetrics and gynecology 医学-妇产科学

CiteScore

2.70

自引率

0.00%

发文量

186

审稿时长

3 months

期刊介绍： Each issue of Clinical Obstetrics and Gynecology is a complete symposium on one or two timely topics of interest in obstetrics and gynecology. For each quarterly issue, two prominent guest editors solicit contributions on key clinical topics of interest to practicing physicians. Procedures, current clinical problems, medical and surgical treatments, and effective diagnostic aids are all carefully reviewed in original articles. The result is an instructive resource that dispenses trustworthy clinical guidance that enhances your understanding of key areas of your practice.