Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2024-09-02 DOI:10.1186/s13039-024-00690-4

Jianlong Zhuang, Na Zhang, Wanyu Fu, Yuying Jiang, Yu'e Chen, Chunnuan Chen

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引用次数: 0

Abstract

Background: The 15q11.2 BP1-BP2 microdeletion syndrome is associated with developmental delays, language impairments, neurobehavioral disorders, and psychiatric complications. The aim of the present study was to provide prenatal and postnatal clinical data for 16 additional fetuses diagnosed with the 15q11.2 BP1-BP2 microdeletion syndrome in the Chinese population.

Methods: A total of 5,789 pregnancy women that underwent amniocentesis were enrolled in the present study. Both karyotype analysis and chromosomal microarray analysis (CMA) were conducted on these subjects to detect chromosomal abnormalities and copy number variants (CNVs). Whole exome sequencing (WES) was performed to investigate sequence variants in subjects with clinical abnormalities after birth.

Results: Sixteen fetuses with 15q11.2 BP1-BP2 microdeletion were identified in the present study, with a detection rate of 0.28% (16/5,789). The 15q11.2 BP1-BP2 microdeletion fragments ranged from 311.8 kb to 849.7 kb, encompassing the NIPA1, NIPA2, CYFIP1, and TUBGCP5 genes. The follow-up results regarding pregnancy outcomes showed that five cases opted for pregnancy termination, while the remaining cases continued with their pregnancies. Subsequent postnatal follow-up indicated that only one case with the 15q11.2 BP1-BP2 microdeletion displayed neurodevelopmental disorders, demonstrating an incomplete penetrance rate of 9.09% (1/11).

Conclusion: The majority of fetuses with the 15q11.2 microdeletion exhibit typical features during early childhood, indicating a low penetrance and mild impact. Nonetheless, pregnancies involving fetuses with the 15q11.2 microdeletion require thorough prenatal counseling. Additionally, enhanced supervision and extended postnatal monitoring are warranted for those who choose to proceed with their pregnancies.

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中国人群中 15q11.2 BP1-BP2 微缺失胎儿的产前诊断：一项为期七年的单中心回顾性研究。

背景：15q11.2 BP1-BP2 微缺失综合征15q11.2 BP1-BP2 微缺失综合征与发育迟缓、语言障碍、神经行为障碍和精神并发症有关。本研究旨在提供中国人群中另外 16 例确诊为 15q11.2 BP1-BP2 微缺失综合征胎儿的产前和产后临床数据：本研究共纳入了 5789 名接受羊膜腔穿刺术的孕妇。对这些受试者进行核型分析和染色体微阵列分析（CMA），以检测染色体异常和拷贝数变异（CNV）。全外显子组测序（WES）用于研究出生后出现临床异常的受试者的序列变异：结果：本研究发现了16个15q11.2 BP1-BP2微缺失胎儿，检出率为0.28%（16/5789）。15q11.2 BP1-BP2 微缺失片段从 311.8 kb 到 849.7 kb 不等，包括 NIPA1、NIPA2、CYFIP1 和 TUBGCP5 基因。关于妊娠结局的随访结果显示，5 例患者选择了终止妊娠，其余患者继续妊娠。随后的产后随访显示，只有一例 15q11.2 BP1-BP2 微缺失病例出现神经发育障碍，不完全渗透率为 9.09%（1/11）：结论：15q11.2 微缺失的大多数胎儿在幼儿期表现出典型特征，表明其低渗透性和轻微影响。尽管如此，15q11.2 微缺失胎儿孕妇仍需接受全面的产前咨询。此外，对于那些选择继续妊娠的孕妇，应加强监护并延长产后监测时间。

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.