CASE REPORT article
Front. Neurosci.
Sec. Neurodevelopment
Volume 19 - 2025 | doi: 10.3389/fnins.2025.1613797
Prenatal diagnosis of 10 fetuses with 15q11-q13 duplication and pregnancy outcome in a cohort of Chinese women
Provisionally accepted
- 1Quzhou Maternity and Child Health Care Hospital, Quzhou, China
- 2Yiwu Maternity and Children Health Care Hospital, Jinhua, Zhejiang Province, China
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The chromosome 15q11-q13 duplication (dup15q) is defined as the presence of three or more copies of 15q11.2-q13.1. The features of the chromosome 15q11-q13 duplication syndrome include developmental delay, intellectual disability, hypotonia, facial anomalies, autism spectrum disorder, seizures, and behavioral problems. To date, more than 120 cases of 15q11-q13 duplication have been reported, but studies on clinical information about prenatal diagnosis of 15q11-q13 duplication and attitudes toward fetuses with 15q11-q13 duplication are extremely limited. Herein, we first report a retrospective Chinese cohort with prenatal diagnosis of 15q11-q13 duplication involving ten phenotypically normal pregnant women. In this Chinese cohort, most of fetuses (90%) with 15q11-q13 duplications didn't have ultrasound abnormalities. Although the penetrance of 15q11-q13 duplication appeared to be incomplete, 60% of families opted to terminate the pregnancy due to concerns about potential risks. Not all 15q11-q13 duplications were attributed to the parental inheritance, 15q11-q13 duplications could also be caused by parental genomic structure variation. We hope that this study provides new and useful insights into the prenatal diagnosis of 15q11-q13 duplication, thereby informing genetic counseling and decision-making regarding pregnancy outcomes.
Keywords: 15q11-q13 duplication, Intellectual Disability, Prenatal Diagnosis, Genetic Counseling, Retrospective cohort
Received: 06 May 2025; Accepted: 01 Sep 2025.
Copyright: © 2025 Li, Wu and Cong. 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: Yan Cong, Yiwu Maternity and Children Health Care Hospital, Jinhua, 322001, Zhejiang Province, China
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