The importance of multidisciplinary prenatal and postnatal evaluation in a case with vacterl association in genetic counseling for following pregnancy

Abstract

Here, we presented the prenatal and postnatal evalu¬ation of a case with VACTERL association, and genetic counseling for the following pregnancy. In a prenatal diagnosis program, ultrasonographic exami¬nation revealed renal agenesis in 22nd week of gestation of a 24 year-old woman who had no gesta¬tional risk. Detailed ultrasound examination in 26tn-32^ week of gestation showed 'massive oligohy¬dramnios, renal agenesis on the right side, dublex kidney, poor renal function on the left side. The cyto¬genetic analyses of the cord-blood revealed 46, XX normal karytype. Because of severe oligohydramnios and the renal agenesis, pregnancy was terminated at 37th week of gestation. With the collaboration of genetics, radiology, pathology, obstetrics and gyne-cologg department, this case was suggested to have VACTERL association. In this genetic evaluation, this case was accepted as sporadic and low recur¬rence risk was considered in genetic counseling. The family decided to undergo a second pregnancy. This pregnancy continued without complication and a normal male infant was born. Multidisciplinary evalu¬ation of this case in prenatal diagnosis allowed us to give more accurate genetic counseling for this family.