The incidence of congenital heart defects – the impact of prenatal diagnosis
Authors:
J. Pavlíček 1; E. Klásková 2; S. Kaprálová 2; T. Zaoral 3; B. Trávníček 3; E. Šilhánová 4; R. Kaniová 4; S. Polanská 1; A. Mužná 1; T. Gruszka 1
Authors place of work:
Oddělení dětské a prenatální kardiologie, Klinika dětského lékařství, FN Ostrava
1; Dětská klinika FN a LF UP, Olomouc
2; Oddělení pediatrické a resuscitační péče, Klinika dětského lékařství, FN Ostrava
3; Oddělení lékařské genetiky, FN Ostrava
4
Published in the journal:
Čes-slov Pediat 2018; 73 (5): 304-312.
Category:
Original Papers
Summary
Objective:
To study of the occurrence of congenital heart defects (CHDs) and the effectiveness of their prenatal detection. To study the frequency of extracardiac anomalies. To determine the possibility of perinatal care in pathological newborns.
Methods:
The retrospective cohort study between 1999–2016. The observed region was the Moravian-Silesian region. The investigation of all significant heart defects, ultrasound examination of the fetal heart (fetal echocardiography) in the second trimester of pregnancy and postnatal standardized examination by a pediatric cardiologist, presence of pediatric cardiologist at all autopsies with a precise description of the defect, birth of a pathological newborn at a specialized center, genetic testing.
Results:
During the monitored 18years period, a total of 784 (3.7 cases per 1,000 fetuses) of significant CHDs were observed in the total population of 209,300 fetuses. There were 52% (406/784) CHDs detected prenatally and 48% (378/784) of cases were not prenatally recognized. The effectiveness of CHDs screening has improved progressively and the success rate of prenatal detection was 74% in the last three years. In the group of prenatally diagnosed significant CHDs, 53 % (215/406) of families decided for termination of gravidity. In most cases, the CHDs was diagnosed as an isolated anomaly, in 78 % (609/784) of fetuses. In 16% (125/784) of cases, concomitant genetic defect was observed, 6 % (50/784) of cases suffered from a different extra cardiac morphological pathology, without a genetic anomaly. Among the patients with genetic impairment, 70% (88/125) of cases were associated with a prenatal diagnostics, in case of extracardiac malformations, this number reached 86 % (43/50).
Conclusions:
CHDs were mostly manifested as an isolated anomaly. Concomitant genetic and other extracardiac pathology were diagnosed in one third of cases and these cases were significantly associated with a prenatal diagnosis. Prenatal care allows a more detailed examination of the pregnancy with a proper counseling for the affected family and the examination of pathological pregnancy and planning of delivery and postnatal interventions for the affected newborn. In our region, more than half of the families with a prenatally diagnosed CHD in the fetus decide to terminate the pregnancy and the incidence of significant CHDs is reduced in the newborn population.
Key words:
congenital heart defect, screening, fetal echocardiography, genetic abnormality, extracardiac malformation
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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