Developmental Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, Colorado, USA.
J Genet Couns. 2023 Feb;32(1):250-259. doi: 10.1002/jgc4.1639. Epub 2022 Oct 6.
Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately one of 500 live births. Clinical phenotypes are highly variable resulting in previous ascertainment rates estimated to be only 10%-25% during a lifetime. Historically, prenatal SCA diagnoses were incidental findings, accounting for ≤10% of cases, with the majority of diagnoses occurring postnatally during evaluations for neurodevelopmental, medical, or infertility concerns. The initiation of noninvasive prenatal screening (NIPS) in 2012 and adoption into standardized obstetric care provides a unique opportunity to significantly increase prenatal ascertainment of SCAs. However, the impact NIPS has had on ascertainment of SCAs is understudied, particularly for those who may defer diagnostic testing until after birth. This study evaluates the timing of diagnostic testing following positive NIPS in 152 infants with SCAs and potential factors influencing this decision. Eighty-seven (57%) elected to defer diagnostic testing after a positive NIPS until birth, and 8% (7/87) of those confirmed after birth were found to have discordant results on postnatal diagnostic testing, most of which would have influenced genetic counseling.
性染色体非整倍体（SCA），包括 47,XXY、47,XXX、47,XYY 和额外变体，在大约每 500 例活产中共同发生。临床表型高度可变，导致之前的确定率估计在一生中仅为 10%-25%。历史上，产前 SCA 诊断是偶然发现的，占病例的≤10%，大多数诊断是在出生后因神经发育、医疗或不孕问题进行评估时发生的。2012 年非侵入性产前筛查（NIPS）的启动和纳入标准化产科护理提供了一个独特的机会，可以大大增加产前 SCA 的确定率。然而，NIPS 对 SCA 确定率的影响研究不足，特别是对于那些可能在出生后推迟诊断测试的人。本研究评估了 152 例 SCA 阳性 NIPS 婴儿的诊断测试时间以及影响这一决定的潜在因素。87 名（57%）选择在阳性 NIPS 后推迟出生前的诊断测试，其中 8%（7/87）在出生后确诊的婴儿在产后诊断测试中发现结果不一致，其中大多数结果会影响遗传咨询。
