Area of the right atrium of the fetal heart and its significance in fetuses with tricuspid regurgitation.

OBJECTIVES: The first aim was to develop a nomogram for the area of the right atrium (ARA) of the fetal heart in uncomplicated singleton pregnancies. The second aim was to assess diagnostic indices of ARA to distinguish between tricuspid regurgitation (TR) with and without concomitant congenital heart defect (CDH). METHODS: The study was conducted between 2014 and 2019. Fetal echocardiography was performed on fetuses with and without TR. For the first aim, ARA was measured in 460 fetuses without proven structural and chromosomal abnormalities, and for the second aim, ARA was measured in 1077 fetuses with TR. RESULTS: A nomogram for the ARA of fetuses with normal hearts was developed. TR was observed in 4.5% (1077/23,771) of euploid fetuses; 4.3% (1020/23,771) of fetuses had TR without a concomitant CHD, and 0.2% (57/23,771) fetuses had TR with a concomitant CHD. No significant differences in ARAs were found between fetuses with normal hearts without TR (n = 22,694) and fetuses with TR without CHD (n = 1020; p = .751). Fetuses with TR and CHDs had different ARA than fetuses with normal hearts without TR and fetuses with TR without CHD (p < .0005 in both cases). CONCLUSIONS: ARA seems to be an auxiliary marker to distinguish the presence of CHD in fetuses with TR.

Major heart defects: the diagnostic evaluations of first-year-olds.

BACKGROUND: Severe or critical congenital heart defects (CHDs) constitute one third of the heart defect cases detected only after birth. These prenatally unrecognised defects usually manifest as cyanotic or acyanotic lesions and are diagnosed postnatally at various times. The aim of the study was to identify their clinical symptoms and determine individual risk periods for CHD manifestation. METHODS: Data were assessed retrospectively based on a cohort of patients born between 2009 and 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was classified into: early neonatal (0-7 days), late neonatal (8-28 days), early infancy (1-6 months), or late infancy (6-12 months). The first symptom for which the child was referred to a paediatric cardiologist was defined as a symptom of CHD. RESULTS: There were 598 major CHDs diagnosed in the studied region, 91% of which were isolated anomalies. A concomitant genetic disorder was diagnosed in 6% of the cases, while 3% presented extracardiac pathology with a normal karyotype. In total, 47% (282/598) of all CHDs were not identified prenatally. Of these, 74% (210/282) were diagnosed as early neonates, 16% (44/282) as late neonates, and 10% (28/282) as infants. The most common symptoms leading to the diagnosis of CHD were heart murmur (51%, 145/282) and cyanosis (26%, 73/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Ventricular septal defect and coarctation of the aorta constituted the majority of delayed diagnoses. CONCLUSIONS: In conclusion, murmur and cyanosis are the most common manifestations of prenatally undetected CHDs. Although most children with major CHDs are diagnosed as neonates, some patients are still discharged from the maternity hospital with an unidentified defect.

Fetal heart rhabdomyomatosis: a single-center experience.

Objectives: The primary aim of the study was to evaluate the prevalence of fetal heart tumors in a single tertiary referral center over a period of 15 years. The secondary aim was to confirm the presence of tuberous sclerosis complex (TSC) through the evaluation of germline mutation in TSC1/TSC2 and assess the outcomes in affected fetuses and newborns.Methods: A retrospective study was conducted between 2003 and 2017. Fetal echocardiography was performed in the second trimester of pregnancy in the study population. The identification of heart tumors and further follow-up were performed by a pediatric cardiologist. Molecular genetic analysis was conducted on fetuses and children in cases where TSC was suspected.Results: In total, 39,018 fetuses were examined between 2003 and 2017. Heart tumors were detected in nine fetuses and were diagnosed as rhabdomyoma in all cases. We identified mutations in one of the TSC1 or TSC2 genes in all cases with multiple rhabdomyomas (8/9). In all born children (5/9), the genetically confirmed diagnosis of TSC was established, and clinically pathological deposits in the brain were found.Conclusion: Fetal heart tumors are usually represented by rhabdomyomas having a good cardiac prognosis. However, rhabdomyoma is usually the first symptom of TSC with a subsequent brain disorder and impaired neurological development.

Congenital fetal heart defect - an agreement between fetal echocardiography and autopsy findings.

AIMS: To determine the frequency of pregnancy terminations due to prenatal congenital heart defect (CHD) and assess the agreement fetal echocardiography (FECHO) and autopsy findings. METHODS: The data were retrospectively assessed between 2008 and 2017 in a population of 116 698 live births. The correlations between the FECHO and autopsy findings were classified into five levels of agreement: complete, partial, altered diagnosis, disagreement, and unfeasible autopsy. RESULTS: Totally, 293 CHDs were identified and 49% of families (143/293) decided to terminate the pregnancy. In 1% (2/143) of cases, the autopsy could not be performed, for the other 99% (141/143), the pathologist confirmed the presence of CHDs. Complete agreement between FECHO and autopsy was achieved in 85% (122/143). In 10% (14/143) of cases, the pathologist found minor findings, which were not described in the FECHO. In 4% (5/143) of cases, the pathologist changed the main diagnosis. CONCLUSION: Altogether, the results indicated that FECHO is a highly sensitive method for the prenatal detection of CHD but is incapable of detecting the complete spectrum of cardiac defects. Autopsies verified the diagnosis, confirmed the overall impairment in the fetus, and provided data for further counselling of the affected family.

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.