ArticleFrontiers in neuroscience2025
Case Report: Prenatal diagnosis of 10 fetuses with 15q11-q13 duplication and pregnancy outcome in a cohort of Chinese women.
Article in Frontiers in neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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 did not 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.
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