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.
Authors
- JianChu Li
- Zhonghui Xu
- Chengmei He
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
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
- Field-Weighted Citation Impact
- 0.00