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ORIGINAL RESEARCH article

Front. Genet.
Sec. Molecular Cytogenetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1448341

Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of literature

Provisionally accepted
Lei Liu Lei Liu 1Lei Tingying Lei Tingying 2*Fei Guo Fei Guo 2Chunling Ma Chunling Ma 3Li Zhen Li Zhen 2Lina Zhang Lina Zhang 2Dongzhi Li Dongzhi Li 2
  • 1 Department of Gynecology and Obstetrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong Province, China
  • 2 Guangzhou Medical University, Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, China
  • 3 Southern Medical University, Guangzhou, Guangdong, China

The final, formatted version of the article will be published soon.

    Objective: The recurrent 1q21.1 microdeletion syndrome is an autosomal dominant disorder and characterized by dysmorphic facial features, microcephaly, developmental delay, and congenital defects. However, most studies on the distal deletions in the 1q21.1 region were diagnosed postnatally. This study was aimed to provide a better understanding of the ultrasound and molecular findings of fetuses with the recurrent 1q21.1 microdeletions in prenatal diagnosis. Methods: In this retrospective study, we reported 21 cases with the recurrent 1q21.1 microdeletion syndrome diagnosed at our prenatal diagnostic center from January 2016 to January 2023. The clinical data were reviewed for these cases, including the maternal demographics, indications for invasive testing, ultrasound findings, CMA results and pregnancy outcomes. Results: In the study, a total of 21 cases with the recurrent 1q21.1 microdeletions were diagnosed prenatally by CMA. Fifteen cases were described with ultrasound indications and the most common findings were: increased nuchal translucency (NT) (26.7%), intrauterine growth retardation (IUGR) (26.7%), congenital heart defects (CHD) (20%), and congenital anomalies of the kidney and urinary tract (CAKUT) (13.3%). All the cases with the distal 1q21.1 deletions contain the common minimal region (located between BP3 and BP4) and 8 OMIM genes. Parental studies to determine inheritance of the deletion were performed for 8 cases and half of them were inherited from one of the parents. Pregnancy outcomes were available for 9 cases; 8 (88.9%) pregnancies were determined to be terminated and 1 (11.1%) was full term delivery. Conclusions: To our knowledge, this is the largest study to found that fetuses with the recurrent 1q21.1 microdeletions were closely associated the increased NT, CHD, IUGR and CAKUT. In addition, we are the first to report that cerebral ventriculomegaly might be associated with the recurrent 1q21.1 microdeletions. More comprehensive studies are needed for a better understanding of the prenatal phenotype–genotype relationship of the recurrent 1q21.1 microdeletion syndrome in the future

    Keywords: The distal 1q21.1 deletions, Prenatal Diagnosis, Chromosomal microarray analysis, Ultrasound findings, The recurrent 1q21.1 microdeletion syndrome

    Received: 13 Jun 2024; Accepted: 13 Aug 2024.

    Copyright: © 2024 Liu, Tingying, Guo, Ma, Zhen, Zhang and Li. 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: Lei Tingying, Guangzhou Medical University, Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, China

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