SOVREMENNAYA PEDIATRIYA.2019.2(98):12-17; doi 10.15574/SP.2019.98.12

Shapoval L. A., Kurkevich A. K.
PI «Scientific–practical medical center for pediatric cardiology and cardio surgery» Ministry of health of Ukraine

Atrioventricular septal defect (AVSD) combines a group of congenital heart defects with a common atrioventricular (AV) junction due to the abnormal development of structures that derive from endocardial cushions during embryonic development of the heart. This defect is characterized by abnormal structure of the AV-septation above and below the level of the AV-valves location. Prenatal diagnosis of AVSD is very important, since in case of such defects chromosomal abnormalities are very common. In addition, a possible association with other cardiac and extracardiac anomalies is possible.

The aim is to determine the frequency of the combination of chromosomal, additional cardiac and extracardiac anomalies in fetuses diagnosed with AVSD; and to analyze their impact on the clinical outcome of defects in the pre- and postnatal period.

Materials and methods. 4,343 pregnant women were examined in the department of prenatal diagnostics of the State Institution «Scientific and Practical Medical Center of Pediatric Cardiology and Cardiac Surgery of the Ministry of Health of Ukraine» from January 2014 to December 2017. During fetal echocardiography 1,247 fetuses were diagnosed with congenital heart defects, 215 (17.2%) of which had AVSD. The data of fetal echocardiography have been analyzed in fetuses with AVSD in comparison with that of fetuses with and without aneuploidy.

Results. AVSD was diagnosed in 215 (17.2%) fetuses and confirmed in 120 (55.8%) newborns. The average age of mothers was 29.9±5.4 years (in range of 17–46 years). The average gestation period was 24.7±4.9 weeks (in range of 17–39 weeks). Fetal cariotype was known in 45 (20.9%) cases, aneuploidy was diagnosed in 30 (14%) of fetuses at the time of primary consultation. AVSD without any other intracardiac abnormalities was found in 111 (51.6%) fetuses. Extracardiac abnormalities were found in 104 (48.3%) fetuses. In 87 (40.5%) cases abortion took place. 120(55.8%) of pregnancies ended in childbirth and 8 (3.7%) in intrauterine fetal death. Out of the eight cases of intrauterine fetal death, in four cases combined AVSD was diagnosed, in other four cases — isolated AVSD. Out of 120 newborns born alive, 63(28.8%) newborns died during the neonatal period without surgical intervention. It was established that only 57 (26.5%) patients underwent surgery (р=0.001). Out of the 215 fetuses with prenatally diagnosed AVSD, chromosomal pathology was found in 66 (30.7%) newborns, 63 (29.3%) of which had Down syndrome, which is statistically significant (р=0.001). The overall survival rate during the three year follow-up period was 27.9% for patients with isolated AVSD, and 15.4% for patients with combined AVSD.

Conclusions. Understanding the influence of extracardiac and chromosomal abnormalities on fetal physiology with AVSD, awareness of the risk of additional cardiac defects and their impact on the quality of life of the child after birth, as well as of the potential for their elimination, both significantly increase the efficiency of prenatal diagnosis in determining the prognosis for the fetus with AVSD.

Key words: atrioventricular septal defect; prenatal diagnosis; fetal echocardiography.

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Article received: Oct 26, 2018. Accepted for publication: Jan 29, 2019.