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非侵入性产前筛查(NIPS)个体化选择的艺术(与科学)

The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).

作者信息

Hsieh Vicky, Sherer David M, Davydovych Kateryna, Kheyman Mila, Dalloul Mudar

机构信息

The Division of Medical Genetics, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, NY, USA.

The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, NY, USA.

出版信息

Int J Womens Health. 2025 May 7;17:1271-1283. doi: 10.2147/IJWH.S437214. eCollection 2025.

Abstract

Non-invasive prenatal screening (NIPS), utilizing cell-free fetal DNA (cffDNA), has revolutionized prenatal care, transitioning from primarily detecting common fetal aneuploidies to encompassing detection of an increasingly broader spectrum of autosomal dominant and recessive conditions. This Commentary delves into the evolution of NIPS, emphasizes the importance of individualized selection of NIPS strategies based on specific clinical scenarios including patient characteristics, and explores its applications beyond aneuploidy screening. The optimal NIPS strategy should be carefully selected based on individual patient factors, including the specific clinical indications, maternal characteristics such as BMI, medical history, medication use, history of previous pregnancies, fetal characteristics such as multiple gestation or suspected anomalies, and the available NIPS technologies. There are also considerations in choosing between MPSS and SNP-based NIPS based cfDNA screening technologies. NIPS is a screening test; hence, diagnostic testing remains crucial for confirmation of any abnormal screening results. Notwithstanding, NIPS has significantly transformed prenatal care, offering valuable insights into fetal health and enabling earlier identification of potential risks. By carefully considering individual patient factors and selecting the most appropriate NIPS strategy, clinicians have the ability to maximize the benefits of this innovative technology while minimizing potential limitations. Continued research and technological advancements will further refine NIPS and expand its applications in the future.

摘要

无创产前筛查(NIPS)利用游离胎儿DNA(cffDNA),彻底改变了产前护理,从主要检测常见胎儿非整倍体转变为涵盖检测越来越广泛的常染色体显性和隐性疾病。本评论深入探讨了NIPS的发展历程,强调了根据包括患者特征在内的特定临床情况进行NIPS策略个性化选择的重要性,并探讨了其在非整倍体筛查之外的应用。应根据个体患者因素仔细选择最佳的NIPS策略,这些因素包括特定的临床指征、母体特征(如BMI、病史、用药情况、既往妊娠史)、胎儿特征(如多胎妊娠或疑似异常)以及可用的NIPS技术。在基于cfDNA的MPSS和基于单核苷酸多态性(SNP)的NIPS筛查技术之间进行选择时也需考虑相关因素。NIPS是一种筛查检测;因此,诊断检测对于确认任何异常筛查结果仍然至关重要。尽管如此,NIPS已经显著改变了产前护理,为胎儿健康提供了有价值的见解,并能够更早地识别潜在风险。通过仔细考虑个体患者因素并选择最合适的NIPS策略,临床医生有能力在将这项创新技术的潜在局限性降至最低的同时,最大限度地发挥其益处。持续的研究和技术进步将在未来进一步完善NIPS并扩大其应用范围。

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Prenatal screening for fetal aneuploidy in singleton pregnancies.单胎妊娠胎儿非整倍体的产前筛查。
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