CRISTINA CRENGUTA ALBU, DINU-FLORIN ALBU, STEFAN-DIMITRIE ALBU, ANCA PATRASCU, ANA-ROXANA MUSAT, ALEXANDRU MARIAN GOGANAU 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.
Keywords: prenatal diagnosis, congenital heart defects, transposition of the great vessels, trisomy 21, ultrasound, genetic conseling.