Genetic Analysis of Fetal Growth Restriction Caused by Rare 4q28.1q31.21 Microdeletion.

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Clinical laboratory Pub Date : 2025-03-01 DOI:10.7754/Clin.Lab.2024.240934

Yan Zhang, Huang-Hui Chen, Hui-Juan Chi, Li-Hua Lin, Zheng-Yong Lin, Jing-Jing Wang, Li-Na Zeng

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引用次数: 0

Abstract

Background: This study conducted genetic analysis on fetuses indicated to be at high risk by non-invasive prenatal testing (NIPT) to explore the etiology.

Methods: Karyotype analysis and single nucleotide polymorphism array (SNP-array) were performed to detect copy number variations in fetal amniotic fluid and parental peripheral blood.

Results: Fetal karyotype showed 46, X?, del (4) (q28q31.2). SNP-array revealed a novel 22.3 Mb deletion in the 4q28.1q31.21 segment. No abnormalities were found in the karyotype and SNP-array of the fetal parents. After induction of labor, the fetus was diagnosed with fetal growth restriction (FGR); being small for its gestational age by three weeks.

Conclusions: Using G-banding karyotype analysis and SNP-array, a prenatal diagnosis of a fetus with rare 4q28.1q31.21 microdeletion was made. The 4q28.1q31.21 microdeletion was identified as the cause of fetal FGR, leading to accurate genetic counseling for pregnant women.

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罕见的4q28.1q31.21微缺失致胎儿生长受限的遗传分析。

背景：本研究通过无创产前检查（NIPT）对高危胎儿进行遗传分析，探讨其病因。方法：采用核型分析和单核苷酸多态性阵列（SNP-array）检测胎儿羊水和父母外周血拷贝数变异。结果：胎儿核型为46，X？， del (4) （q28q31.2）。SNP-array显示在4q28.1q31.21片段有22.3 Mb的新缺失。胎父母的核型和snp序列未见异常。引产后诊断为胎儿生长受限（FGR）；比它的胎龄小三周。结论：应用g带核型分析和SNP-array对1例罕见的4q28.1q31.21微缺失胎儿进行产前诊断。4q28.1q31.21微缺失被确定为胎儿FGR的原因，为孕妇提供准确的遗传咨询。

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

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.