Division of Pediatric Surgery, Phoenix Children's Hospital.
Department of Child Health, University of Arizona - College of Medicine, Phoenix, Arizona, USA.
Curr Opin Pediatr. 2024 Oct 1;36(5):547-553. doi: 10.1097/MOP.0000000000001388. Epub 2024 Jul 31.
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.
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.
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.
性发育差异（DSD）是一组染色体、性腺和解剖条件，这些条件在妊娠期间并不经常被诊断出来。家庭和临床医生需要诊断指导，以支持从产前到产后护理的所有方面。
非侵入性产前筛查（NIPS）通过在妊娠早期从母亲的血液中采集游离胎儿 DNA 来获得。虽然其主要目的是筛查遗传非整倍体，但也用于确定胎儿的性别。当筛查超声显示生殖器解剖结构与 NIPS 确定的性别不一致时，需要进行 DSD 检查。这种相对较新的筛查工具的使用可能会导致比过去更多的产前转诊。
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。所有这些诊断都很少见，但家庭面临的共同特征都得到了特别强调，包括心理社会支持和衡量的共同决策方法。
