Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

This study conducted a preliminary assessment of the genotype and phenotype of fetuses with 15q13.3 deletions/duplications, expanding the phenotypic spectrum of this syndrome. The study suggests that prenatal 15q13.3 deletions and duplications may be associated with cardiac malformations and lateral ventriculomegaly, but lack phenotype specificity. Moreover, it is essential to closely monitor the neuropsychiatric development postnatally in fetuses with 15q13.3 deletions and duplications that exhibit normal phenotypes during the prenatal period.

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Publication Details

Journal
Archives of Gynecology and Obstetrics
Published
2025-10-22
DOI
https://doi.org/10.1007/s00404-025-08150-z
Primary Topic
Congenital heart defects research
Type
article
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article

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Yingyun Fu, Shuxian Zeng, Jin‐Xing Liu, Fei Zhou et al.
Archives of Gynecology and Obstetrics
Congenital heart defects research
article

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Yingyun Fu, Shuxian Zeng, Jin‐Xing Liu, Fei Zhou, Hongyan Niu, Xiaohang Chen, Hongqing Liu, Yanyun Guo, Xiaojin Luo
article en

Abstract

This study conducted a preliminary assessment of the genotype and phenotype of fetuses with 15q13.3 deletions/duplications, expanding the phenotypic spectrum of this syndrome. The study suggests that prenatal 15q13.3 deletions and duplications may be associated with cardiac malformations and lateral ventriculomegaly, but lack phenotype specificity. Moreover, it is essential to closely monitor the neuropsychiatric development postnatally in fetuses with 15q13.3 deletions and duplications that exhibit normal phenotypes during the prenatal period.

Archives of Gynecology and ObstetricsVol. 312(6)
Longgang Central Hospital (CN), Shenzhen Maternity and Child Healthcare Hospital (CN), Chinese University of Hong Kong, Shenzhen (CN), Shenzhen Second People's Hospital (CN)
Openalex Percentile: Top 73%
Congenital heart defects research
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Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents? — Yingyun Fu, Shuxian Zeng, et al. · Archives of Gynecology and Obstetrics (2025) | TGRS Research Map | TGRS