Non-intuitive trends of fetal fraction development related to gestational age and fetal gender, and their practical implications for non-invasive prenatal testing

IF 2.3 3区 生物学 Q3 BIOCHEMICAL RESEARCH METHODS
Natalia Forgacova , Juraj Gazdarica , Jaroslav Budis , Marcel Kucharik , Martina Sekelska , Tomas Szemes
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引用次数: 0

Abstract

Discovery of fetal cell-free DNA fragments in maternal blood revolutionized prenatal diagnostics. Although non-invasive prenatal testing (NIPT) is already a matured screening test with high specificity and sensitivity, the accurate estimation of the proportion of fetal fragments, called fetal fraction, is crucial to avoid false-negative results. In this study, we collected 6999 samples from women undergoing NIPT testing with a single male fetus to demonstrate the influence of fetal fraction by the maternal and fetal characteristics. We show several fetal fraction discrepancies that contradict the generally presented conventional view. At first, the fetal fraction is not consistently rising with the maturity of the fetus due to a drop in 15 weeks of maturation. Secondly, the male samples have a lower fetal fraction than female fetuses, arguably due to the smaller gonosomal chromosomes. Finally, we discuss not only the possible reasons why this inconsistency exists but we also outline why these differences have not yet been identified and published. We demonstrate two non-intuitive trends to better comprehend the fetal fraction development and more precise selection of patients with sufficient fetal fraction for accurate testing.

与胎龄和胎儿性别有关的胎儿分数发展的非直觉趋势及其对无创产前检测的实际意义
母体血液中胎儿无细胞DNA片段的发现彻底改变了产前诊断。虽然无创产前检查(NIPT)已经是一种成熟的筛查试验,具有很高的特异性和敏感性,但准确估计胎儿碎片的比例,即胎儿分数,对于避免假阴性结果至关重要。在这项研究中,我们收集了6999例接受NIPT检测的女性样本,其中有一个男性胎儿,以证明胎儿分数受母体和胎儿特征的影响。我们显示了几个胎儿分数的差异,这与普遍提出的传统观点相矛盾。起初,胎儿分数并不随着胎儿的成熟而持续上升,因为在成熟的15周内胎儿分数会下降。其次,男性样本的胎儿比例低于女性胎儿,这可能是由于性腺染色体较小。最后,我们不仅讨论了这种不一致存在的可能原因,而且还概述了为什么这些差异尚未被识别和发表。我们展示了两种非直观的趋势,以更好地理解胎儿分数的发展和更精确地选择有足够胎儿分数的患者进行准确的检测。
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来源期刊
Molecular and Cellular Probes
Molecular and Cellular Probes 生物-生化研究方法
CiteScore
6.80
自引率
0.00%
发文量
52
审稿时长
16 days
期刊介绍: MCP - Advancing biology through–omics and bioinformatic technologies wants to capture outcomes from the current revolution in molecular technologies and sciences. The journal has broadened its scope and embraces any high quality research papers, reviews and opinions in areas including, but not limited to, molecular biology, cell biology, biochemistry, immunology, physiology, epidemiology, ecology, virology, microbiology, parasitology, genetics, evolutionary biology, genomics (including metagenomics), bioinformatics, proteomics, metabolomics, glycomics, and lipidomics. Submissions with a technology-driven focus on understanding normal biological or disease processes as well as conceptual advances and paradigm shifts are particularly encouraged. The Editors welcome fundamental or applied research areas; pre-submission enquiries about advanced draft manuscripts are welcomed. Top quality research and manuscripts will be fast-tracked.
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