Development of prenatal diagnostics of congenital heart defects, profit of standardized scanning planes

Czech version

Authors: J. Pavlíček ¹; E. Klásková ²; E. Doležálková ³; D. Matura ³; R. Špaček ³; T. Gruszka ¹; S. Polanská ¹; M. Procházka ⁴
Authors‘ workplace: Oddělení dětské a prenatální kardiologie, Klinika dětského lékařství FN a LF OU, Ostrava, přednosta doc. MUDr. M. Hladík, Ph. D. ¹; Dětská klinika FN a LF UP, Olomouc, přednosta prof. MUDr. D. Pospíšilová, Ph. D. ²; Gynekologicko-porodnická klinika FN a LF OU, Ostrava, přednosta doc. MUDr. O. Šimetka, Ph. D., MBA ³; Ústav lékařské genetiky FN a LF UP, Olomouc, přednosta prof. MUDr. M. Procházka, Ph. D. ⁴
Published in: Ceska Gynekol 2018; 83(1): 17-23

Overview

Objective:
To audit the development and success rate of prenatal detection of congenital heart defects (CHDs), and to evaluate the effectiveness of diagnostics performed in standardized scanning planes.

Setting:
Department of Pediatrics, University Hospital Ostrava.

Design:
Retrospective study.

Methods:
Ultrasound examination of fetal heart (fetal echocardiography) was performed in the second trimester pregnancy. The observed region was the Moravian-Silesian region; the assessment was performed in the retrospective study performed between 2000- 2016. The knowledge of all significant heart defects in the region, processing of data from genetic reporting, further examination of all prenatal pathologies by a pediatric cardiologist, presence of a pediatric cardiologist at all autopsies, with a precise description of the defect, birth of a pathological new-born at a specialized centre. Analysis of detected CHDs was performed in relation to the ultrasound scans used.

Results:
During the monitored 17-year period, a total of 748 (3.8 cases per 1,000 foetuses) of prenatally identified and postnatally significant CHDs were observed in the total population of 198,300 foetuses. There were 53% (393/748) CHDs detected prenatally and 47% (355/748) of cases were not prenatally recognized. The effectiveness of CHD screening has improved progressively, from the initial 10% up to the current 74%. The best results were obtained using the basic four-chamber (4CH) scan; the results in practice gradually decreased, from the basic 4CH projection to the aortic arch.

Conclusion:
The effectiveness of prenatal detection of congenital heart defects gradually improves, namely in cases of hypoplasia and significant ventricular anomalies, with up to 100% prenatally detected cases in the past three years. The level of detection statistically decreases, from the four-chamber projection to out-flow tracts, great arteries and the aortic arch. Congenital heart defect is generally well detectable prenatally, and is usually observed as an isolated anomaly. The most important factors include a precise diagnosis, overall examination of the pregnancy and correct counselling provided for the affected family.

Keywords:
congenital heart defect, fetal echocardiography, screening, ultrasound scan

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