Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study

The majority of fetuses with the 15q11.2 microdeletion exhibit typical features during early childhood, indicating a low penetrance and mild impact. Nonetheless, pregnancies involving fetuses with the 15q11.2 microdeletion require thorough prenatal counseling. Additionally, enhanced supervision and extended postnatal monitoring are warranted for those who choose to proceed with their pregnancies.

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Publication Details

Journal
Molecular Cytogenetics
Published
2024-09-02
DOI
https://doi.org/10.1186/s13039-024-00690-4
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
0.00

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article

Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study

Jianlong Zhuang, Chunnuan Chen, Na Zhang, Yue Chen et al.
Molecular Cytogenetics
Congenital heart defects research
article

Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study

Jianlong Zhuang, Chunnuan Chen, Na Zhang, Yue Chen, Yuying Jiang, Wanyu Fu
article en

Abstract

The majority of fetuses with the 15q11.2 microdeletion exhibit typical features during early childhood, indicating a low penetrance and mild impact. Nonetheless, pregnancies involving fetuses with the 15q11.2 microdeletion require thorough prenatal counseling. Additionally, enhanced supervision and extended postnatal monitoring are warranted for those who choose to proceed with their pregnancies.

Molecular CytogeneticsVol. 17(1)
Fujian Medical University (CN), Fujian Women and Children Hospital (CN), The 180th Hospital of PLA (CN), Second Affiliated Hospital of Fujian Medical University (CN)
Quanzhou City Science and Technology Program
Zero hunger
Openalex Percentile: Top 87%
Congenital heart defects research
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