Parents' request for termination of pregnancy due to a congenital heart defect of the fetus in a country with liberal interruption laws.

Objectives: This study aimed to evaluate the prenatal rate of congenital heart defects (CHDs) and the frequency of termination of pregnancy (TOP) due to a CHD, depending on the severity of the defect and concomitant diseases of the fetus.Methods: The data were assessed retrospectively between 2002 and 2017. Ultrasound examination was performed mostly in the second trimester. For analysis, the CHDs were divided into three groups of severity and three groups of fetus impairment.Results: A total of 40,885 fetuses underwent echocardiography. The CHDs were detected in 1.0% (398/40,885) and were an isolated anomaly in 69% (275/398). Forty-nine percent (197/398) of families decided to TOP. In all groups of severity, the rate of TOP rose linearly when comparing isolated defects and cases with associated morphological and genetic impairments. The TOP was significantly dependent on the associated anomalies in patients with the most correctable defects (p < .001) and the severity of CHDs in isolated cases without any other impairment (p < .001).Conclusion: The parents' decision to terminate increased with the severity of the defect and the associated anomalies of the fetus. The parents were mostly influenced by the associated anomalies when the CHD was correctable, and genetic factors played a more important role than morphological ones.

Congenital heart defects according to the types of the risk factors - a single center experience.

Objective: The main aim of this study was to compare the prevalence of congenital heart defects (CHDs) between pregnant women with and those without the risk factors. The secondary aim was to determine the influence of the specific risk factors, divided into subgroups, on the development of the CHD. Methods: The presented results were obtained over the course of a 15-year study between years 2002 and 2016. Fetal echocardiography was performed as a planned screening examination during the second trimester of gravidity. A total of 35,831 singleton pregnancies were examined at our center. Risk factors for the development of CHDs were analyzed and divide into the following groups: (i) maternal age ≥35 years; (ii) mother-related risk factors; (iii) pregnancy- and fetus-related risk factors; (iv) pregnancy after in vitro fertilization (IVF); (v) history of CHDs in the first-degree family member; (vi) history of CHDs in the second-degree family member; and (vii) positive genetic family history. Results: The risk factors were identified in 25% (8990/35,831) of pregnancies. In total, CHDs were detected in 1.1% (394/35,831) of fetuses. The prevalence rate of CHDs was higher in the pregnancies with than in those without the risk factors (2.5% [221/8990] versus 0.6% [173/26,841]; p < .0001). The presence of pregnancy- and fetus-related risk factors (odds ratio [OR], 6.5; 95% confidence interval [CI], 4.3-9.7) and pregnancy after IVF (OR, 2.8; 95% CI, 1.5-5.2) were found to be independent risk factors of CHDs. Conclusions: The presence of specific risk factors is related to the increasing prevalence of CHDs. Pregnancy- and fetus-related risk factors and in vitro fertilization were found to be the independent risk factors of CHD.

Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening.

AIM: To study congenital heart defects (CHDs), evaluate their relation to extra-cardiac pathologies, and assess the significance of prenatal diagnostics for heart diseases. METHODS: Data from 1999-2017 were analyzed for the incidence of significant CHDs in fetuses (prenatal ultrasound/echocardiography) and children, including, where applicable, autopsy data and genetic evaluation. RESULTS: Among 220,400 fetuses, 819 (3.7 cases per 1000) significant CHDs were observed. Of the total, 53% (435/819) of CHDs were diagnosed prenatally. The heart defect was an isolated impairment in 78% (640/819), associated with a genetic impairment in 16% (128/819), and with extra-cardiac malformations without genetic pathology in 6% (51/819). Chromosomal aberrations were diagnosed prenatally in 70% (90/128) of those affected and extra-cardiac conditions in 86% (44/51). The CHD and genetic pathology association was more frequent prenatally [21% (90/435) vs. postnatally: 10% (38/384; P<0.0001)], as was the association between CHD with other extra-cardiac pathology and a normal karyotype [prenatally: 10% (44/435) vs. postnatally: 2% (7/384; P<0.0001)]. CONCLUSION: Heart defects are most frequently isolated, with genetic and other extra-cardiac anomalies in about one third of cases, significantly linked to prenatal diagnostics.