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Isolated absent pulmonary valve syndrome with an intact ventricular septum (APVS/IVS) is an extremely rare lesion. The prenatal diagnosis was described in a few reports. In the current work, we report a unique fetal case with this rare anomaly. The family counseling for isolated APVS/IVS is a different challenging process than with fetal Fallot type diagnosis. Moreover, 22q11 deletion has never been found as an association. Parents must also be aware of the expected early heart failure in cases with large patent ductus arteriosus and the need for its closure as early as possible.

Fetal diagnosis of isolated absent pulmonary valve with intact interventricular septum: How to counsel the parents?