Early Prenatal Diagnosis of an Extremely Rare Association of Down Syndrome and Transposition of the Great Vessels

Every year, an estimated 7.9 million infants (6% of worldwide births) are born with serious�birth defects 1.�Congenital cardiovascular defects make up one of the largest groups of severe congenital malformations 2.The incidence of congenital heart defects in different studies varies from about 4/1,000 to 50/1,000 live births 3.� Congenital heart disease is frequently described in patients with Down syndrome and is the main cause of death in this population during the first two years of life 4.�Trisomy 21 with cardiovascular malformations have a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population 5.�Prenatal diagnosis of�congenital�heart disease is important for proper perinatal and neonatal management, as congenital cardiac malformations occurs in approximately eight of 1000 live births 6. We present an extremely rare case of early prenatal diagnosis and management of a fetus with trisomy 21 associated with the transposition of the great vessels, one of the most mysterious congenital cardiac malformations.