对超声异常胎儿 14q11.2 微缺失的基因分析

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Clinical laboratory Pub Date : 2024-09-01 DOI:10.7754/Clin.Lab.2024.240335

Yan Zhang, Kun Lin, Li-Na Zeng, Li Lin, Xian Dong, Jing-Jing Wang, Huang-Hui Chen

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引用次数: 0

摘要

背景：本研究旨在探讨超声显示颈部透明层（NT）增厚和脉络丛囊肿胎儿的遗传基础：本研究旨在探讨超声提示颈部透明层（NT）增厚和脉络丛囊肿的胎儿的遗传基础：方法：采集胎儿羊水和外周血进行G-带核型分析和单核苷酸多态性阵列（SNP-array）检测：结果：胎儿及其父母的染色体核型均正常。结果：胎儿及其父母的染色体核型均正常，单核苷酸多态性阵列（SNP-array）显示胎儿在 14q11.2 处有 277 kb 的微缺失，这是一个新的突变。引产后，胎儿被诊断为巨脑畸形：结论：14q11.2 微缺失诱发胎儿宫内发育迟缓的产前诊断得到证实，为后续妊娠提供了指导。

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Genetic Analysis of a Fetus with 14q11.2 Microdeletion in Ultrasound Abnormalities.

Background: This study aimed to explore the genetic basis of a fetus with ultrasound indicating a thickening of the nuchal translucency (NT) and a choroid plexus cyst.

Methods: Fetal amniotic fluid and peripheral blood were collected for a G-banding karyotype analysis and single nucleotide polymorphism array (SNP-array) detection.

Results: The chromosome karyotypes of the fetus and its parents were normal. SNP-array showed the fetus had carried 277 kb microdeletion at 14q11.2, which was a new mutation. After the induced abortion, the fetus was diagnosed with macrocephaly.

Conclusions: A prenatal diagnosis of a fetus with 14q11.2 microdeletion-induced intrauterine growth retardation was confirmed, which has provided guidance for the subsequent pregnancy.

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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.