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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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.