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.