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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Published on: August 17, 2022

使用αalpha软件和胎儿医学基金会算法对21型三胞胎瘤进行查.

L Pistorius¹, C A Cluver², I Bhorat³

¹Department of Obstetrics and Gynaecology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa, Panorama Perinatology, Mediclinic Panorama, Cape Town, South Africa. lou@maternalfetal.co.za.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

|March 25, 2024

概括

南非21型三症的产前查显示,胎儿医学基金会 (FMF) 软件提供了比alpha软件更好的检测率. 低查吸收限制了产前诊断的有效性.

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科学领域:

产前诊断在产前诊断
遗传学是一个遗传学.
公共卫生公共卫生

背景情况:

21型三体瘤查为孕妇提供了关键的风险信息.
南非使用各种算法进行21型三症查.
由于产前检测率较低,目前的查方法对其有效性提出了担忧.

研究的目的:

评估 trisomy 21 的产前查的阳性查和检测率.
为了比较南非私人医疗保健系统内的不同查算法.

主要方法:

分析了来自三个主要实验室 (2010-2015年) 的数据,并与遗传测试联系起来.
生物化学查 (alpha软件) 和联合查 (FMF或alpha软件) 进行了比较.
对各种查方法进行了查阳性和检测率的评估.

主要成果:

在225,021例查的怀孕中,只有35%的三症21例在产前被诊断出来.
结合FMF软件的查,在5%的假阳性率下,实现了95%的检测率.
与alpha软件相比,FMF软件显示出更高的检测率.

结论:

与alpha软件相比,FMF软件提供了可比的屏幕阳性率,与21型三症的检测优越.
低查吸收率显著影响了三症21的整体产前检测率.
需要进一步的研究来了解南非查和确认测试的障碍.