1q21.1微缺失和微重复的产前诊断:回顾性病例系列。

IF 1.4 4区 生物学 Q4 GENETICS & HEREDITY
Ziyang Liu, Song Yi, Manman Li, Nian Liu
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引用次数: 0

摘要

目的:研究1q21.1拷贝数变异(CNVs)的产前特征、遗传模式和结局,完善产前咨询策略。方法:回顾性分析2017 - 2024年间连续20例产前诊断为1q21.1 CNVs的病例。基因检测包括核型、染色体微阵列分析(CMA)和拷贝数变异测序(CNV-seq)。评估表型数据、遗传模式和妊娠结局。结果:该队列包括12个微缺失(60%)和8个微重复(40%)。66.7%(8/12)的微缺失(如胎儿生长受限、心脏缺陷)和37.5%(3/8)的微重复(如鼻骨发育不全)出现超声异常。未发现1q21.1 CNVs特有的产前超声标记。50%(10/20)的病例选择终止妊娠(TOP),主要是新生CNVs (TOP决定的80%)。在活产婴儿(n = 9)中,在产后随访(3个月至5年)中未发现明显异常。结论:产前1q21.1 CNVs具有不完全外显性和可变表达性,与产前特定超声标记无一致关联。新生CNVs的最高发生率反映了父母对神经发育结果的深刻焦虑。这些发现强调了整合基因组发现、表型严重程度和社会心理支持的全面产前咨询的迫切需要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series.

Objective: This study aimed to characterize the prenatal features, inheritance patterns, and outcomes of 1q21.1 copy number variations (CNVs) and refine prenatal counseling strategies.

Methods: We conducted a retrospective analysis of 20 consecutive prenatal cases diagnosed with 1q21.1 CNVs between 2017 and 2024. Genetic testing included karyotyping, chromosomal microarray analysis (CMA), and copy number variation sequencing (CNV-seq). Phenotypic data, inheritance patterns, and pregnancy outcomes were evaluated.

Results: The cohort comprised 12 microdeletions (60%) and 8 microduplications (40%). Ultrasound anomalies were detected in 66.7% (8/12) of microdeletion cases (e.g., fetal growth restriction, cardiac defects) and 37.5% (3/8) of microduplication cases (e.g., nasal bone hypoplasia). No specific prenatal ultrasound markers pathognomonic for 1q21.1 CNVs were identified. Termination of pregnancy (TOP) was elected in 50% (10/20) of cases, predominantly for de novo CNVs (80% of TOP decisions). Among live-born infants (n = 9), no overt abnormalities were detected during postnatal follow-up (3 months to 5 years).

Conclusion: Prenatal 1q21.1 CNVs demonstrate incomplete penetrance and variable expressivity, without consistent association with specific prenatal ultrasound markers. The TOP rate for de novo CNVs reflects profound parental anxiety regarding neurodevelopmental outcomes. These findings underscore the critical need for comprehensive prenatal counseling that integrates genomic findings, phenotypic severity, and psychosocial support.

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来源期刊
Molecular Cytogenetics
Molecular Cytogenetics GENETICS & HEREDITY-
CiteScore
2.60
自引率
7.70%
发文量
49
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.
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