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.
Authors
- Yingyun Fu (ORCID: https://orcid.org/0000-0001-6836-9021)
- Shuxian Zeng (ORCID: https://orcid.org/0009-0005-9717-211X)
- Jin‐Xing Liu (ORCID: https://orcid.org/0000-0001-6104-2149)
- Fei Zhou (ORCID: https://orcid.org/0000-0003-1216-2181)
- Hongyan Niu (ORCID: https://orcid.org/0009-0005-0860-3687)
- Xiaohang Chen
- Hongqing Liu (ORCID: https://orcid.org/0000-0002-2069-0390)
- Yanyun Guo
- Xiaojin Luo (ORCID: https://orcid.org/0000-0003-3802-5345)
Institutions
- Longgang Central Hospital (CN)
- Shenzhen Maternity and Child Healthcare Hospital (CN)
- Chinese University of Hong Kong, Shenzhen (CN)
- Shenzhen Second People's Hospital (CN)
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
- Field-Weighted Citation Impact
- 0.00