Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

IF 2.1 4区医学 Q2 OBSTETRICS & GYNECOLOGY

European journal of obstetrics, gynecology, and reproductive biology Pub Date : 2024-10-06 DOI:10.1016/j.ejogrb.2024.10.007

Maria Sobol , Christos Aravidis , Hugo Hessel , Anna Lindqvist , Izabella Baranowska Körberg

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引用次数: 0

Abstract

Objective

We report data of non-invasive prenatal testing (NIPT) at Uppsala University Hospital between 2017–2022. Furthermore, we illustrate the potential capacity of massive parallel sequencing-based NIPT beyond identification of common trisomies.

Methods

Maternal blood samples were analyzed using the Verifi NIPT or VeriSeq NIPT assays. Diagnostic testing, performed on amniotic fluid samples, included QF-PCR, microarray (SNP-array) and metaphase FISH.

Results

Among 4532 NIPT tests performed between 2017–2022, 125 samples (2.76%) showed increased risk for trisomies 13, 18, 21 and sex chromosome aneuploidy. For three patients with normal NIPT result further microarray indicated other types of chromosomal rearrangement which were not analyzed by NIPT. For another patient (case 1) the Verifi NIPT indicated trisomy 13. Fetal fraction (FF) was estimated to be 10%. Confirmatory microarray detected a segmental duplication on chromosome 13, as well as a terminal duplication and a terminal deletion on chromosome 10. A complex karyotype was observed in the fetus with metaphase FISH. In the second case the VeriSeq NIPT indicated trisomy 13. FF was estimated to be 11%. Confirmatory microarray detected a mosaicism of trisomy 13 in 30 % of cells.

Conclusion

This study illustrates detection of peculiar abnormalities of chromosome 13 and supports potential to screen copy number variations with genome-wide NIPT.

查看原文本刊更多论文

基于大规模平行测序的无创产前检测（NIPT）可确定 13 号染色体上的畸变。

目的：我们报告了乌普萨拉大学医院 2017-2022 年间的无创产前检测（NIPT）数据。此外，我们还说明了基于大规模平行测序的 NIPT 在识别常见三染色体之外的潜在能力：方法：使用 Verifi NIPT 或 VeriSeq NIPT 检测方法对母体血液样本进行分析。对羊水样本进行的诊断测试包括 QF-PCR、微阵列（SNP-array）和分裂相 FISH：在2017-2022年间进行的4532例NIPT检测中，125例样本（2.76%）显示13、18、21三体和性染色体非整倍体风险增加。有 3 名 NIPT 结果正常的患者，进一步的微阵列显示存在其他类型的染色体重排，而 NIPT 并未对其进行分析。另一名患者（病例 1）的 Verifi NIPT 结果显示为 13 三体综合征。胎儿比例（FF）估计为 10%。微阵列确证检测出 13 号染色体上有一个节段性重复，10 号染色体上有一个末端重复和一个末端缺失。通过分裂相 FISH 观察到胎儿的复杂核型。在第二个病例中，VeriSeq NIPT 显示为 13 三体综合征。FF 估计为 11%。确认性芯片检测到 30% 的细胞中存在 13 三体综合征嵌合现象：本研究说明了 13 号染色体特殊异常的检测方法，并支持利用全基因组 NIPT 筛查拷贝数变异的潜力。

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

European journal of obstetrics, gynecology, and reproductive biology 医学-妇产科学

CiteScore

4.60

自引率

3.80%

发文量

898

审稿时长

8.3 weeks

期刊介绍： The European Journal of Obstetrics & Gynecology and Reproductive Biology is the leading general clinical journal covering the continent. It publishes peer reviewed original research articles, as well as a wide range of news, book reviews, biographical, historical and educational articles and a lively correspondence section. Fields covered include obstetrics, prenatal diagnosis, maternal-fetal medicine, perinatology, general gynecology, gynecologic oncology, uro-gynecology, reproductive medicine, infertility, reproductive endocrinology, sexual medicine and reproductive ethics. The European Journal of Obstetrics & Gynecology and Reproductive Biology provides a forum for scientific and clinical professional communication in obstetrics and gynecology throughout Europe and the world.