The Clinical Application and Accuracy Evaluation of Noninvasive Prenatal Testing for Common Trisomy and Sex Chromosome Aneuploidy.

IF 2 4区医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Discovery medicine Pub Date : 2023-06-01 DOI:10.24976/Discov.Med.202335176.36

Yichao Wang, Yanhong Shao, Juan Yu

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Abstract

Background: Noninvasive prenatal testing (NIPT) has been widely adopted in prenatal examination for fetal chromosomal aneuploidy. The present study aimed to evaluate the clinical features of NIPT for both common trisomy and sex chromosome aneuploidy (SCA).

Methods: A total of 24,164 pregnant women with NIPT testing from July 2020 to June 2022 were recruited at the Linping Maternity and Child Health Care Hospital.

Results: Ninety cases showed high risk of trisomy 21/18/13 with karyotype results available, and the sensitivity, specificity, and positive predictive value (PPV) were 98.41%, 99.88% and 68.89%, respectively. The three most important reasons for screening were advanced maternal age (AMA, 28.06%), intermediate risk of prenatal screening (20.34%) and Multiple of medium (MoM) abnormality of prenatal screening (17.38%). High risk of NIPT results with Z-score ≥15 have a higher PPV when compared to those with 3 ≤ Z-score < 10, and 10 ≤ Z-score < 15. Meanwhile, 97 pregnant women received positive results for fetal sex chromosome aneuploidy (SCA) in NIPT. In addition, the rate for further diagnostics of SCA was 64.95% and the PPV of SCA was 50.79%.

Conclusions: Our data show that NIPT has a promising future in prenatal screening for genetic abnormalities of the fetus, and that the accuracy of NIPT is closely related to Z-score.

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普通三体和性染色体非整倍体无创产前检测的临床应用及准确性评价。

背景:无创产前检查(NIPT)已广泛应用于胎儿染色体非整倍体的产前检查。本研究旨在评估NIPT对普通三体和性染色体非整倍体(SCA)的临床特征。方法:招募2020年7月至2022年6月在临平妇幼保健院进行NIPT检测的孕妇24164例。结果:90例患者为21/18/13三体高危人群，有核型结果，敏感性为98.41%，特异性为99.88%，阳性预测值(PPV)为68.89%。产前筛查的三个最主要原因是高龄产妇(AMA, 28.06%)、产前筛查的中度风险(20.34%)和产前筛查的中度(MoM)异常倍数(17.38%)。与3≤Z-score < 10和10≤Z-score < 15相比，Z-score≥15的高危NIPT结果PPV更高。同时，97例孕妇在NIPT中获得胎儿性染色体非整倍体(SCA)阳性结果。SCA的进一步诊断率为64.95%，PPV为50.79%。结论:我们的数据表明，NIPT在产前筛查胎儿遗传异常方面具有广阔的应用前景，且NIPT的准确性与Z-score密切相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Discovery medicine MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

5.40

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Discovery Medicine publishes novel, provocative ideas and research findings that challenge conventional notions about disease mechanisms, diagnosis, treatment, or any of the life sciences subjects. It publishes cutting-edge, reliable, and authoritative information in all branches of life sciences but primarily in the following areas: Novel therapies and diagnostics (approved or experimental); innovative ideas, research technologies, and translational research that will give rise to the next generation of new drugs and therapies; breakthrough understanding of mechanism of disease, biology, and physiology; and commercialization of biomedical discoveries pertaining to the development of new drugs, therapies, medical devices, and research technology.