Performance of cell free DNA as a screening tool based on the results of first trimester screening.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2024-12-20 DOI:10.1186/s13039-024-00702-3

Mahtab Motevasselian, Mohammad Amin Omrani, Soraya Saleh Gargari, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Soudabeh Jamali, Mohammad-Hossein Modarresi, Shahram Savad, Majid Rahmani, Saloomeh Amidi, Saeed Delshad, Fariba Navidpour, Samira Chagheri, Yalda Mohammadi, Sheyda Khalilian, Solat Eslami, Soudeh Ghafouri-Fard

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Abstract

The advent of non-invasive prenatal testing (NIPT) in the screening of fetal abnormalities has optimized prenatal care and decreased the rate of invasive diagnostic tests. In this retrospective descriptive study, we began with 1874 singleton pregnancies. After exclusion of some cases, the study cohort ended up with 1674 cases. We analyzed the performance of NIPT based on the results of first trimester screening (FTS) using serum screening combined with NT. The cases were also compared to diagnostic testing/pregnancy outcomes. Notably, in the subgroup with FTS risk < 1000, NIPT was reported to be normal in all cases with no false negative results. In the risk group of 1/300-1/1000, NIPT could detect all trisomy 21 cases with one false positive result. Moreover, in the risk group of 1/11 - 1/300, NIPT could detect all cases of trisomy 21, 13 and 18 with low false positive rate. However, the false positive rate for sex chromosomal abnormalities was high. Taken together, the current study confirms the applicability of NIPT as a tool for detection of fetal trisomies with high sensitivity and specificity. Yet, the high rate of false positive results for sex chromosome abnormalities should be considered in the interpretation of the results.

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基于孕早期筛选结果的细胞游离DNA筛选工具的性能。

非侵入性产前检查（NIPT）在胎儿异常筛查中的出现优化了产前护理，降低了侵入性诊断检查的比率。在这项回顾性描述性研究中，我们从1874例单胎妊娠开始。在排除了一些病例后，研究队列最终有1674例。我们分析了NIPT的性能基于早期妊娠筛查（FTS）使用血清筛查结合NT的结果，并将病例与诊断测试/妊娠结局进行了比较。值得注意的是，在有FTS风险的亚组中

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.