15q11.2 microdeletion and hypoplastic left heart syndrome

We describe a patient referred to us at 22 weeks of gestation in her second pregnancy after prenatal sonography performed at 21 weeks of gestation. There was no history of teratogen exposure during the first trimester of pregnancy. Parents were Italian, healthy and nonconsanguineous. The maternal age was 22 years, and the paternal age was 25 years.Sonogram of the 4-chamber view of the fetal heart showed a hypoplastic left ventricle for mitral and aortic atresia. Fetal chromosomal analysis performed on amniotic fluid sampling showed a karyotype 46, XX.