Prenatal Atrioventricular Septal Defect (AVSD) as a planned congenital heart disease with different outcome depending on the presence of the coexisting extracardiac abnormalities (ECA) and/or malformations (ECM).

Introduction: Prenatal atrioventricular septal defect (AVSD) on frequent occasions coexists with other cardiac or extracardiac abnormalities or malformation which may change the prognosis and the management with the fetus and the newborn. The aim of the research was to assess the prognosis and the outcome of prenatally diagnosed AVSD based on the classification which also includes coexisting extracardiac abnormalities and malformations as well as its influence on the prenatal consultation. Methods: It was a retrospective analysis of 113 patients with prenatally diagnosed AVSD. The group was selected out of 871 patients with CHD. Out of 113 fetuses with AVSD we exclude those in whom AVSD was coexistent with other cardiac malformations ( n  = 41). Extracardiac abnormalities [ECA] were defined as problems which do not require surgical intervention after delivery, they were usually markers of a genetic syndrome. Extracardiac malformations [ECM] were defined as problems requiring surgical interventions after delivery or lethal malformations. All 72 fetuses with an isolated AVSD were classified to one of the three groups: (1) Simple AVSD - (sAVSD) - a fetus with isolated AVSD without coexisting ECA and ECM ( n  = 6), (2) sAVSD + ECA - a fetus with isolated AVSD, with coexisting ECA ( n  = 28), (3) sAVSD + ECM - a fetus with isolated AVSD, with coexisting ECM ( n  = 38). Results: The pregnancy from the groups sAVSD + ECM were, in fact, more often referred to the prenatal cardiology centers on account of the existing ECM ( p =.03). There were no differences between the two subgroups in regard to: the mean age of the pregnancy, the mean age of the fetus at the time of diagnosis and during diagnostic testing at the referral center, the gender of the fetus. An increased nuchal translucency (NT) was most often found in fetuses from the group AVSD + ECA ( n  = 13/23), which was connected with more frequent occurrence of abnormal karyotype ( p =.048). The trisomy 21 more frequently referred to pregnancy with sAVSD + ECA than those with sAVSD + ECM ( p =.0006). In the group sAVSD + ECM there was the highest number of fetuses small for the gestational age detected -48.65% ( p =.01). Most often premature deliveries were found in the group sAVSD + ECM (72.73%). The duration of gestation in the group sAVSD + ECM turned out to be much shorter than that in the group with the isolated sAVSD ( p =.01) and sAVSD + ECA ( p =.03). The lowest Apgar score was in the newborns from the group sAVSD + ECM ( p =.002). Longer period of gestation was connected with the higher score on Apgar scale (R = 0.541; p =.001). The average delivery weight of the newborns was the lowest in the group sAVSD + ECM ( p =.04). sAVSD + ECM was connected with the significantly higher death rate than the isolated sAVSD ( p =.0047) or sAVSD + ECA ( p <.00001). The fatality rate of the newborns/ fetuses from the pregnancies lasting less than 37 weeks turned out to be much higher than in the case of the remaining pregnancies (sAVSD p =.002). Conclusions: (1) The majority of fetuses with AVSD remained the patients of just obstetricians and prenatal cardiologists because of highly heterogeneous of the coexisting malformations and abnormalities and since they perish in the period of fetal or neonatal life usually they are not seen by the pediatricians or cardiac surgeons. (2) The classification of the AVSD in fetus to a particular group of the prognostic classification of the fetal heart defects helps to plan perinatal management and supplies information regarding the prognosis. (3) The highest mortality rate was in a group of AVSD + ECM, probably due to shorter time of pregnancy duration, fetuses grow restriction and low Apgar score in 1 minute of life.