Prenatal and postnatal evaluation of differences of sex development: a user's guide for clinicians and families.

IF 2.2 3区 医学 Q2 PEDIATRICS
Current opinion in pediatrics Pub Date : 2024-10-01 Epub Date: 2024-07-31 DOI:10.1097/MOP.0000000000001388
Erica M Weidler, Brielle Ochoa, Kathleen van Leeuwen
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引用次数: 0

Abstract

Purpose of review: Differences of sex development (DSD) are a group of chromosomal, gonadal, and anatomic conditions that are not often diagnosed during pregnancy. Families and clinicians need diagnostic guidance that supports all aspects of the care from the prenatal to postnatal period.

Recent findings: Noninvasive prenatal screening (NIPS) is obtained by sampling cell-free fetal DNA in the mother's bloodstream in the first trimester. While its primary purpose is to screen for genetic aneuploidies, it is also used to determine the sex of the fetus. When screening ultrasound shows genital anatomy that is discordant with the sex determination by NIPS, a DSD workup is warranted. The use of this relatively new screening tool may result in a higher number of prenatal referrals than in the past.

Summary: This review summarizes suggested prenatal counseling, neonatal management, and postnatal workup of the most common DSD diagnoses. All of these diagnoses are rare, but the common features that families face are addressed with particular emphasis on psychosocial support and a measured shared decision-making approach.

产前和产后性别发育差异评估:临床医生和家庭用户指南》。
审查目的:性别发育差异(DSD)是一组染色体、性腺和解剖方面的疾病,在孕期并不常见。家庭和临床医生需要诊断指导,以支持从产前到产后各方面的护理:无创产前筛查(NIPS)是通过在怀孕前三个月对母亲血液中的无细胞胎儿 DNA 进行采样而获得的。无创产前筛查的主要目的是筛查遗传性非整倍体,但也可用于确定胎儿性别。当超声筛查显示生殖器解剖结构与 NIPS 性别鉴定不一致时,就需要进行 DSD 检查。摘要:本综述总结了最常见的 DSD 诊断的产前咨询、新生儿管理和产后检查建议。所有这些诊断都很罕见,但都涉及到了家庭所面临的共同特征,特别强调了社会心理支持和有分寸的共同决策方法。
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
CiteScore
6.20
自引率
0.00%
发文量
184
审稿时长
6-12 weeks
期刊介绍: ​​​​​Current Opinion in Pediatrics is a reader-friendly resource which allows the reader to keep up-to-date with the most important advances in the pediatric field. Each issue of Current Opinion in Pediatrics contains three main sections delivering a diverse and comprehensive cover of all key issues related to pediatrics; including genetics, therapeutics and toxicology, adolescent medicine, neonatology and perinatology, and orthopedics. Unique to Current Opinion in Pediatrics is the office pediatrics section which appears in every issue and covers popular topics such as fever, immunization and ADHD. Current Opinion in Pediatrics is an indispensable journal for the busy clinician, researcher or student.
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