Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2023-10-28 DOI:10.1186/s13039-023-00661-1

Yong Xu, Siqi Hu, Liyuan Chen, Ying Hao, Hu Zhang, Zhiyong Xu, Weiqing Wu, Liyanyan Deng

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引用次数: 0

Abstract

Objective: To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT).

Methods: The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT. Results of NT, NIPT, chromosomal diagnostic and pregnancy outcomes were collected.

Results: Study group was composed of 1470 single pregnancies, including 864 with NT 2.5-2.9 mm, 350 with NT 3.0-3.4 mm and 256 with NT ≥ 3.5 mm. Non-significant differences were found in the positive predictive value (PPV) of NIPT between different cutoffs of NT. There was one false positive case with NT 4.3 mm, screening for 47,XYY in NIPT showed normal in diagnostic testing. For cases with normal NIPT results, the residual risk is 1:20 (5%, 95%CI: 0.1-10.1%) in fetuses with NT 3.0-3.4 mm and 1:15 (6.5%, 95%CI: 1.4%-11.5%) in fetuses with NT ≥ 3.5 mm. These false negative cases included one trisomy 21, seven pathogenic CNVs, one uniparental disomy and one single gene disorders.

Conclusion: Our findings demonstrated that the PPV of NIPT for screening chromosomal aberrations were similarly in different NT cutoffs, while false positive case does exist. After normal in NIPT, risk for chromosomal aberrations remained, especially pathogenic CNV and even common trisomy. Therefore, prenatal diagnosis was recommended and CMA was suggested to apply in pregnancies with NT ≥ 3.0 mm.

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非侵入性产前检测在筛查不同珠心半透明切口妊娠染色体畸变中的应用。

目的：探讨非侵入性产前检查（NIPT）在不同颈透明区切除病例中的有效性 ≥ 2.5 mm的患者接受NIPT。收集NT、NIPT、染色体诊断和妊娠结局的结果。结果：研究组包括1470例单胎妊娠，其中864例NT为2.5-2.9 mm，350例NT为3.0-3.4 mm，256例NT为 ≥ 3.5 mm。NIPT的阳性预测值（PPV）在NT的不同临界点之间没有显著差异。有一例NT为4.3 mm的假阳性病例，NIPT中的XYY筛查为47，诊断测试显示正常。对于NIPT结果正常的病例，NT 3.0-3.4mm胎儿的残余风险为1:20（5%，95%CI:0.1-10.1%），NT胎儿的残余危险为1:15（6.5%，95%CI:1.4%-11.5%） ≥ 这些假阴性病例包括1例21三体、7例致病性CNVs、1例单亲二体和1例单基因疾病。结论：NIPT筛查染色体畸变的PPV在不同的NT切口中具有相似性，但存在假阳性病例。NIPT正常后，染色体畸变的风险仍然存在，尤其是致病性CNV，甚至常见的三体性。因此，建议进行产前诊断，并建议将CMA应用于NT妊娠 ≥ 3.0毫米。

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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.