Prenatal Diagnosis of Fetal Aortopulmonary Window and Genetic Abnormalities

We present a rare fetal case of aortopulmonary window (APW) accompanied by severe growth restriction and a complex chromosomal abnormality involving two pathogenic 15q copy number variants encompassing the IGF1R gene. Fetal echocardiography at 28 weeks confirmed the APW and a perimembranous ventricular septal defect. This co-occurrence suggests a more complex relationship between 15q aberrations and APW and warrants further study. Moreover, this case expands the phenotypic spectrum of 15q imbalances and underscores the need for integrated prenatal evaluation combining advanced cardiac imaging with genomic analysis, particularly in congenital heart disease accompanied by significant growth disturbance.

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Publication Details

Journal
Journal of Clinical Ultrasound
Published
2026-02-26
DOI
https://doi.org/10.1002/jcu.70211
Primary Topic
Tracheal and airway disorders
Type
article
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article

Prenatal Diagnosis of Fetal Aortopulmonary Window and Genetic Abnormalities

JianChu Li, Zhonghui Xu, Chengmei He
Journal of Clinical Ultrasound
Tracheal and airway disorders
article

Prenatal Diagnosis of Fetal Aortopulmonary Window and Genetic Abnormalities

JianChu Li, Zhonghui Xu, Chengmei He
article en

Abstract

We present a rare fetal case of aortopulmonary window (APW) accompanied by severe growth restriction and a complex chromosomal abnormality involving two pathogenic 15q copy number variants encompassing the IGF1R gene. Fetal echocardiography at 28 weeks confirmed the APW and a perimembranous ventricular septal defect. This co-occurrence suggests a more complex relationship between 15q aberrations and APW and warrants further study. Moreover, this case expands the phenotypic spectrum of 15q imbalances and underscores the need for integrated prenatal evaluation combining advanced cardiac imaging with genomic analysis, particularly in congenital heart disease accompanied by significant growth disturbance.

Journal of Clinical Ultrasound
Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Peking Union Medical College Hospital (CN)
Good health and well-being
Openalex Percentile: Top 40%
Tracheal and airway disorders
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