Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.
Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.
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非凡婴儿研究参与者的无创产前筛查 (NIPS) 结果：筛查、咨询、诊断和不一致。
DOI：
10.1002/jgc4.1639
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发表时间：
2023
影响因子：
1.9
通讯作者：
Tartaglia,NicoleR
中科院分区：
文献类型：
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作者：
Howell,Susan;Davis,ShanleeM;Thompson,Talia;Brown,Mariah;Tanda,Tanea;Kowal,Karen;Alston,Amanda;Ross,Judith;Tartaglia,NicoleR
性染色体非整倍性（SCA），包括47，XXY，47，XXX，47，XYY和额外变异体，大约每500例活产婴儿中就有一例发生。临床表型是高度可变的，导致以前的确定率估计在一生中只有10%-25%。从历史上看，产前SCA诊断是偶然发现，占病例的≤10%，大多数诊断发生在产后神经发育、医学或不育问题的评估期间。2012年启动的无创产前筛查（NIPS）和标准化产科护理的采用为显着增加SCA的产前确认提供了独特的机会。然而，NIPS对SCA确定的影响尚未得到充分研究，特别是对于那些可能将诊断测试推迟到出生后的人。本研究评估了152例SCA婴儿NIPS阳性后诊断性检测的时机以及影响这一决定的潜在因素。87人（57%）选择在NIPS阳性后推迟诊断测试，直到出生，8%（7/87）的出生后确诊者被发现在产后诊断测试中有不一致的结果，其中大部分会影响遗传咨询。
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.