Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2022-09-01 DOI:10.1186/s13039-022-00616-y

Junjie Hu, Kai Yan, Pengzhen Jin, Yanmei Yang, Yixi Sun, Minyue Dong

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引用次数: 0

Abstract

Background: So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mosaicism (T8M), which was initially identified via cffDNA screening in noninvasive prenatal testing (NIPT).

Methods: A 35-year-old woman received cffDNA screening at 17th week of gestation. Amniocentesis was performed subsequently, and karyotyping, single-nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs™) were used to determine fetal chromosome content. Interphase fluorescence in situ hybridization (FISH) was applied to determine the copy number of chromosome 8.

Results: An enhanced risk for fetal trisomy 8 was identified by cffDNA screening in the studied pregnant woman. After amniocentesis trisomy 8 was found in 1 of 73 metaphases. SNP-array on DNA derived from cultured amniocytes and neonatal cord blood cells suggested the presence of T8M. Interphase FISH on native neonatal cord blood cells confirmed T8M with a percentage of 10%. The Bobs™ fluorescence data also suggested that 8q23-8q24 was amplified.

Conclusions: The current study shows that NIPT is suited to provide hints on rare autosomal trisomies, which have to be further validated and confirmed by other approaches.

Abstract Image

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8三体嵌合体的产前诊断，最初是通过cffDNA筛查确定的。

背景:母体血浆中游离细胞胎儿DNA (cffDNA)来源于胎盘，被广泛用于筛选胎儿非整倍体，包括21、18、13三体和性染色体。在这里，我们报告了一例8号三体嵌合体(T8M)，最初是通过无创产前检测(NIPT)中的cffDNA筛查发现的。方法:一名35岁的妇女在妊娠第17周接受了cfdna筛查。随后进行羊膜穿刺术，并用核型分析、单核苷酸多态性阵列(SNP-array)和bac -on- beads™(BoBs™)检测胎儿染色体含量。采用间期荧光原位杂交法测定8号染色体的拷贝数。结果:在研究的孕妇中，通过cffDNA筛查发现胎儿8号三体的风险增加。羊膜穿刺术后，73例中期患者中有1例发现8型三体。从培养的羊膜细胞和新生儿脐带血细胞中提取的DNA的snp阵列显示存在T8M。原生新生儿脐带血细胞间期FISH证实T8M，比例为10%。Bobs™荧光数据也显示8q23-8q24被扩增。结论:目前的研究表明，NIPT适合为罕见的常染色体三体提供线索，这需要通过其他方法进一步验证和证实。

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

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.