Chromosomal analysis in pregnant women of advanced maternal age: indications for prenatal diagnosis.

IF 2 4区 医学 Q3 PHYSIOLOGY
Journal of Physiology and Pharmacology Pub Date : 2024-08-01 Epub Date: 2024-10-10 DOI:10.26402/jpp.2024.4.08
F F Wang, Y Li, M M Liu, Y M Han, Z W Sun, C Wang, L L Wang, M Guo, P L Li
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Abstract

The demographic of women of advanced maternal age (AMA), defined as those over 35 years, is expanding in response to the liberalization of China's three-child policy. A significant proportion of these women are electing to undergo noninvasive prenatal testing (NIPT). Nonetheless, next-generation sequencing (NGS) is the recommended method for prenatal screening among women of AMA in the world. Consequently, the decision between opting for NIPT or NGS has emerged as topic of considerable debate and interest within the medical community. The objective was to explore which prenatal screening and diagnosis is suitable for women of AMA with different comorbidities. In this retrospective study, 326 pregnant women with AMA were divided into 9 groups to investigate clinically significant copy number variation (CNV) in different amniocentesis indications by amniocentesis and NGS. Clinically significant chromosomal abnormalities were identified in 84 cases (25.8%). Among the 119 detected segmental imbalances, 16 cases (13.4%) exhibited pathogenic or likely pathogenic microdeletions or micro-duplications. The incidence of pathogenic or likely pathogenic CNVs was significantly higher in the AMA with soft ultrasound markers group compared to the general AMA group (11.5% vs. 1.1%; P=0.016). Additionally, the incidence of pathogenic or likely pathogenic CNVs was significantly higher in the AMA with NIPT group compared to the general AMA group (48.7% vs. 1.1%; P<0.001). The incorporation of soft ultrasound markers and NIPT significantly enhanced the detection rate of clinically significant CNVs in women of AMA by 10.4% and 47.6%, respectively. Furthermore, the detection rate of clinically significant CNVs increased by 37% in women of AMA who underwent NIPT, when soft ultrasound markers were present. The positive predictive value of NIPT in detecting sex chromosome aneuploidy notably improved from 57.9% to 80% with the inclusion of soft ultrasound markers. Therefore, the combination of NIPT and soft ultrasound markers in women of AMA should be strongly considered and recommended for prenatal diagnosis.

高龄孕妇的染色体分析:产前诊断的适应症。
随着中国三胎政策的放开,高龄产妇(AMA)(指 35 岁以上的妇女)的人数正在不断增加。这些妇女中有很大一部分选择接受无创产前检测(NIPT)。尽管如此,下一代测序(NGS)仍是世界上AMA妇女产前筛查的推荐方法。因此,选择 NIPT 还是 NGS 已成为医学界颇受争议和关注的话题。本研究旨在探讨哪种产前筛查和诊断方法适合患有不同合并症的 AMA 妇女。在这项回顾性研究中,326 名患有 AMA 的孕妇被分为 9 组,通过羊膜腔穿刺术和 NGS 研究不同羊膜腔穿刺适应症中具有临床意义的拷贝数变异(CNV)。结果发现 84 例(25.8%)有临床意义的染色体异常。在 119 例检测到的节段不平衡中,16 例(13.4%)表现为致病性或可能致病性微缺失或微重复。与普通 AMA 组相比,带有软超声标记物的 AMA 组致病性或可能致病性 CNV 的发生率明显更高(11.5% 对 1.1%;P=0.016)。此外,与普通 AMA 组相比,使用 NIPT 的 AMA 组致病性或可能致病性 CNV 的发生率明显更高(48.7% vs. 1.1%;P=0.016)。
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来源期刊
CiteScore
4.00
自引率
22.70%
发文量
0
审稿时长
6-12 weeks
期刊介绍: Journal of Physiology and Pharmacology publishes papers which fall within the range of basic and applied physiology, pathophysiology and pharmacology. The papers should illustrate new physiological or pharmacological mechanisms at the level of the cell membrane, single cells, tissues or organs. Clinical studies, that are of fundamental importance and have a direct bearing on the pathophysiology will also be considered. Letters related to articles published in The Journal with topics of general professional interest are welcome.
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