The velo-cardio-facial syndrome (VCFS) is a multifaceted malformation syndrome with a complex and diverse clinical phenotype that can present with more than 180 malformations, with the following common symptoms: 1. 3. congenital heart disease, such as tetralogy of Fallot, aortic dissection, permanent arterial trunk, and ventricular septal defect; 4. immunocompromise; and 5. mental, behavioral, and cognitive impairment. The phenotype varies between patients, no single patient can present with all malformations, and each malformation is not present in all patients. The primary pathogenesis of VCFS is due to a microdeletion found in the region of the long arm of chromosome 22, region 1, subband 2. The majority (>90%) of patients with VCFS are de novo disseminated, and a minority (<10%) of patients inherit from their parents and are autosomal dominant. If one parent has a chromosomal aberration, there is a 50% chance of passing it on to the child; if the sibling has the lesion and the parent does not, the risk of disease in the newborn sibling is relatively low, but higher than in the general population. Therefore, it is necessary to perform prenatal screening of the fetus during the mother's pregnancy for couples who have and have had a history of VCFS maternity. Also, fetuses with conus arteriosus truncus anomalies detected by prenatal ultrasound should be genotyped prenatally.