ORIGINAL RESEARCH article
Front. Genet.
Sec. Molecular Cytogenetics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1568225
This article is part of the Research TopicGene Editing in Preterm Birth ResearchView all articles
Intrauterine ultrasound phenotyping, molecular characteristics and postnatal follow-up of fetuses with the 1q21.1 microdeletion/microduplication syndrome: a single-center, retrospective clinical study and review of the literature
Provisionally accepted
- 济宁医学院附属医院, 山东济宁, China
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Objective: This study aims to investigate the clinical features and intrauterine phenotype of fetuses with 1q21.1 microdeletion/microduplication, and to improve the detailed summary of the phenotypic characteristics of 1q21.1 region.Method: Chromosomal microarray analysis (CMA) was used to diagnose six fetuses with 1q21.1 microdeletion syndrome and seven fetuses with 1q21.1 microduplication syndrome at our center.Clinical data were systematically collected and analyzed. Additionally, prenatal cases with 1q21.1 microdeletion or microduplication in the literature were retrospectively reviewed.Results: Of the six fetuses with microdeletion, three presented abnormalities on ultrasound, while the remaining three exhibited abnormalities in serological screening. Among the 7 cases of microduplication, 5 cases demonstrated abnormalities on ultrasound and 2 showed abnormalities in serological screening. The 1q21.1 microdeletion/microduplication was maternally inherited in 2 cases and occurred de novo in 3 cases. Among the 13 pregnant women, 8 opted for termination of pregnancy, while the remaining 5 gave born to children with no abnormalities. Follow-up revealed normal growth and development in these children up to the time of publication.In cases with 1q21.1 copy number variants, different prenatal phenotypes were observed, ranging from normal to abnormal. For 1q21.1 microdeletion, the most common intrauterine abnormalities were NT thickening, cardiac abnormalities, intrauterine growth retardation and renal abnormalities.For the 1q21.1 microduplication, the most common intrauterine abnormalities were nasal bone abnormalities, cardiac abnormalities, ventricular abnormalities and increased NT.However, due to the phenotypic diversity, incomplete penetrance and lack of obvious characteristics, it is difficult to predict the postnatal development and health status of 1q21.1 CNVs clinically. Therefore, long-term follow-up is needed for neonates with 1q21.1 CNVs, whether de novo or inherited.
Keywords: Chromosomal microarray analysis, 1q21.1 microdeletion syndrome, 1q21.1 microduplication syndrome, Prenatal Diagnosis, copy number variation
Received: 29 Jan 2025; Accepted: 13 May 2025.
Copyright: © 2025 Liu, Liu, Hu, Jiang, Bai and Guo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Huan Guo, 济宁医学院附属医院, 山东济宁, China
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