Pregnancy Termination and Postnatal Major Congenital Heart Defect Prevalence After Introduction of Prenatal Cardiac Screening.

Importance: Prenatal cardiac screening of the first and second trimesters has had a major impact on postnatal prevalence of congenital heart defects (CHDs), rates of termination of pregnancy (TOP), and outcomes among children born alive with CHDs. Objective: To examine the prenatal and postnatal incidence of major CHDs (ie, necessitating intervention within the first year of life), detection rate trends, rates of TOP, and the association of cardiac screening with postnatal outcomes. Design, Settings, and Participants: In this cross-sectional study, 3827 fetuses with antenatally diagnosed major CHDs in the Czech Republic (population 10.7 million) between 1991 and 2021 were prospectively evaluated with known outcomes and associated comorbidities. Prenatal and postnatal prevalence of CHD in an unselected population was assessed by comparison with a retrospective analysis of all children born alive with major CHDs in the same period (5454 children), using national data registry. Data analysis was conducted from January 1991 to December 2021. Main Outcomes and Measures: Prenatal detection and postnatal prevalence of major CHDs and rate of TOPs in a setting with a centralized health care system over 31 years. Results: A total of 3 300 068 children were born alive during the study period. Major CHD was diagnosed in 3827 fetuses, of whom 1646 (43.0%) were born, 2069 (54.1%) resulted in TOP, and 112 (2.9%) died prenatally. The prenatal detection rate increased from 6.2% in 1991 to 82.8% in 2021 (P < .001). Termination of pregnancy decreased from 70% in 1991 to 43% (P < .001) in 2021. Of 627 fetuses diagnosed in the first trimester (introduced in 2007), 460 were terminated (73.3%). Since 2007, of 2066 fetuses diagnosed in the second trimester, 880 (42.6%) were terminated, resulting in an odds ratio of 3.6 (95% CI, 2.8-4.6; P < .001) for TOP in the first trimester compared with the second trimester. Postnatal prevalence of major CHDs declined from 0.21% to 0.14% (P < .001). The total incidence (combining prenatal detection of terminated fetuses with postnatal prevalence) of major CHD remained at 0.23% during the study period. Conclusions and Relevance: In this cross-sectional study, the total incidence of major CHD did not change significantly during the 31-year study period. The prenatal detection of major CHD approached 83% in the current era. Postnatal prevalence of major CHD decreased significantly due to early TOPs and intrauterine deaths. The introduction of first trimester screening resulted in a higher termination rate in the first trimester but did not revert the overall decreasing trend of termination for CHDs in general.

Pregnancy in the time of COVID-19: towards Fetal monitoring 4.0.

On the outbreak of the global COVID-19 pandemic, high-risk and vulnerable groups in the population were at particular risk of severe disease progression. Pregnant women were one of these groups. The infectious disease endangered not only the physical health of pregnant women, but also their mental well-being. Improving the mental health of pregnant women and reducing their risk of an infectious disease could be achieved by using remote home monitoring solutions. These would allow the health of the mother and fetus to be monitored from the comfort of their home, a reduction in the number of physical visits to the doctor and thereby eliminate the need for the mother to venture into high-risk public places. The most commonly used technique in clinical practice, cardiotocography, suffers from low specificity and requires skilled personnel for the examination. For that and due to the intermittent and active nature of its measurements, it is inappropriate for continuous home monitoring. The pandemic has demonstrated that the future lies in accurate remote monitoring and it is therefore vital to search for an option for fetal monitoring based on state-of-the-art technology that would provide a safe, accurate, and reliable information regarding fetal and maternal health state. In this paper, we thus provide a technical and critical review of the latest literature and on this topic to provide the readers the insights to the applications and future directions in fetal monitoring. We extensively discuss the remaining challenges and obstacles in future research and in developing the fetal monitoring in the new era of Fetal monitoring 4.0, based on the pillars of Healthcare 4.0.

Risk factors for tumors or leukemia development in the first two years of life.

OBJECTIVES: The objective of this study was to determine the incidence of neoplastic diseases and associated risk factors in the early stages of life. METHODS: Data were retrospectively assessed in 730,000 live births between 2000 and 2019. The occurrence of tumors was monitored in the neonatal, infant (1-12 months), and toddler (13-24 months) periods. Risk factors were divided into demographic, internal, and environmental factors. The control group consisted of subjects in the same age category without oncological diseases. RESULTS: A total of 452 neoplastic diseases were diagnosed in the study sample. In total, 24% (110/452) manifested during the neonatal period, 45% (203/452) in infants, and 31% (139/452) at the age of 13-24 months. Any genetic disease (OR 26.68; 95% CI 7.64-93.12) and medications used by the mother (OR 3.07; 95% CI 1.32-7.15) were identified as risk factors. Without adjustment for all factors, asphyxia in the first minute, a younger age of the mother, lower pregnancy, and the presence of a congenital defect manifested themselves as risk factors. CONCLUSIONS: The highest risk factors for the development of early childhood tumors were identified as with medications used by the mother before or during pregnancy and genetic diseases.

Measuring respiratory and heart rate using a fiber optic interferometer: A pilot study in a neonate model.

Introduction: The study aim was to test the safety and efficacy of a pad with optic fibers developed for monitoring newborn respiratory rate (RR) and heart rate (HR). Methods: Thirty New Zealand White rabbits were included, divided by weight into three groups. RR and HR were measured using two methods for each rabbit: ECG electrodes as the reference method and a newly developed pad with an experimental fiber optic system (EFOS) as the experimental method. Results: Analysis was performed on data for 29 rabbits (10 female, 34%; 19 male, 66%). EFOS performed better at measuring RR compared with HR. RR values did not differ significantly between the methods for the whole group (p = 0.151) or within each sex (female: p > 0.999; male: p = 0.075). Values for HR, however, did differ between methods for the whole group of animals (p < 0.001) and also within groups by sex (female: p < 0.001; male: p = 0.006). Conclusion: The results of this preclinical study demonstrate the potential of this non-invasive method using a fiber optic pad to measure HR and RR.

Circulating Serum Cystatin C as an Independent Risk Biomarker for Vascular Endothelial Dysfunction in Patients with COVID-19-Associated Multisystem Inflammatory Syndrome in Children (MIS-C): A Prospective Observational Study.

INTRODUCTION: Multisystem inflammatory syndrome in children (MIS-C) is a new clinical entity that has emerged in the context of the COVID-19 pandemic. Despite the less severe course of the disease, varying degrees of cardiovascular events may occur in MIS-C; however, data on vascular changes occurring in MIS-C are still lacking. Endothelial dysfunction (ED) is thought to be one of the key risk factors contributing to MIS-C. BACKGROUND: We conducted a prospective observational study. We investigated possible manifestations of cardiac and endothelial involvement in MIS-C after the treatment of the acute stage and potential predictive biomarkers in patients with MIS-C. METHODS: Twenty-seven consecutive pediatric subjects (≥9 years), at least three months post-treated MIS-C of varying severity, in a stable condition, and twenty-three age- and sex-matched healthy individuals (HI), were enrolled. A combined non-invasive diagnostic approach was used to assess endothelial function as well as markers of organ damage using cardiac examination and measurement of the reactive hyperemia index (RHI), by recording the post- to pre-occlusion pulsatile volume changes and biomarkers related to ED and cardiac disease. RESULTS: MIS-C patients exhibited a significantly lower RHI (indicative of more severe ED) than those in HI (1.32 vs. 1.80; p = 0.001). The cutoff of RHI ≤ 1.4 was independently associated with a higher cardiovascular risk. Age and biomarkers significantly correlated with RHI, while serum cystatin C (Cys C) levels were independently associated with a diminished RHI, suggesting Cys C as a surrogate marker of ED in MIS-C. CONCLUSIONS: Patients after MIS-C display evidence of ED, as shown by a diminished RHI and altered endothelial biomarkers. Cys C was identified as an independent indicator for the development of cardiovascular disease. The combination of these factors has the potential to better predict the cardiovascular consequences of MIS-C. Our study suggests that ED may be implicated in the pathophysiology of this disease.

Nationwide observational study of paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the Czech Republic.

The worldwide outbreak of the novel 2019 coronavirus disease (COVID-19) has led to recognition of a new immunopathological condition: paediatric inflammatory multisystem syndrome (PIMS-TS). The Czech Republic (CZ) suffered from one of the highest incidences of individuals who tested positive during pandemic waves. The aim of this study was to analyse epidemiological, clinical, and laboratory characteristics of all cases of paediatric inflammatory multisystem syndrome (PIMS-TS) in the Czech Republic (CZ) and their predictors of severe course. We performed a retrospective-prospective nationwide observational study based on patients hospitalised with PIMS-TS in CZ between 1 November 2020 and 31 May 2021. The anonymised data of patients were abstracted from medical record review. Using the inclusion criteria according to World Health Organization definition, 207 patients with PIMS-TS were enrolled in this study. The incidence of PIMS-TS out of all SARS-CoV-2-positive children was 0.9:1,000. The estimated delay between the occurrence of PIMS-TS and the COVID-19 pandemic wave was 3 weeks. The significant initial predictors of myocardial dysfunction included mainly cardiovascular signs (hypotension, oedema, oliguria/anuria, and prolonged capillary refill). During follow-up, most patients (98.8%) had normal cardiac function, with no residual findings. No fatal cases were reported.Conclusions: A 3-week interval in combination with incidence of COVID-19 could help increase pre-test probability of PIMS-TS during pandemic waves in the suspected cases. Although the parameters of the models do not allow one to completely divide patients into high and low risk groups, knowing the most important predictors surely could help clinical management.

Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features.

BACKGROUND: In Turner syndrome (TS), fluorescent in situ hybridization (FISH) karyotyping offers an alternative to classical karyotyping. OBJECTIVE: We tested the added value of FISH karyotyping from lymphocytes (mesodermal origin), buccal cells (ectodermal origin), and a rear-tongue smear (endodermal origin) to determine the 45,X cell line fraction and its impact on patient phenotype. DESIGN AND PATIENTS: Classical karyotyping and three FISH assays were done in 153 girls and women previously diagnosed with TS in four university hospitals. The 45,X cell line fraction was determined for each method and correlated with the major phenotypic signs. RESULTS: Classical karyotyping identified 45,X/46,XX mosaicism in 77/153 subjects (50%), 45,X monosomy in 52/153 (34%), and other karyotypes in 24/153 (16%). FISH from lymphocytes verified 45,X in 47/52 original cases, whereas 4/52 had 45,X/46,XX and 1/52 45,X/47,XYY mosaicism. The 45,X cell line fraction was higher in FISH from lymphocytes compared to classical karyotyping (median 86.4% vs. 70.0%; p < 0.001), while there was no difference for FISH from buccal or rear-tongue smear cells. The mean 45,X cell line fraction was more abundant in patients with several of the characteristic phenotypic signs compared to patients without them (p < 0.01), but the predictive power was insufficient. CONCLUSION: FISH analysis confirmed the findings of classical karyotyping; only a few 45,X monosomy cases were reclassified as mosaics. The 45,X cell line fraction did not show clinically meaningful prediction of the phenotype. FISH analysis of buccal or rear-tongue epithelial cells may be a non-inferior, less invasive alternative to classical karyotyping.

Baseline Diameter of the Inferior Vena Cava Measured with Sonography in Euvolemic Children and its Relationship to Somatic Variables.

PURPOSE: To determine normative data for the inferior vena cava (VCI) diameter in euvolemic children and its correlation with different somatic parameters in a pediatric population at one center in Europe. MATERIALS AND METHODS: This prospective observational study enrolled healthy children aged 4 weeks to 18y that visited our outpatient clinic. Weight, height, body surface area, and age were recorded. The children were grouped according to weight, as follows (80 children/group): < 10 kg, 10-19.9 kg, 20-29.9 kg, 30-59.9 kg, and 60-90 kg. Children were placed in a supine position and, during quiet respiration, the maximum and minimum VCI diameters were measured with M-mode ultrasonography. The collapsibility index (CI) was also automatically calculated for each subject: CI = [VCI maximum (expiratory) diameter - VCI minimum (inspiratory) diameter]/VCI maximum (expiratory) diameter. RESULTS: From May 2016 through November 2018 we retrieved data for 415 children that underwent VCI diameter evaluations. 400 children were included (mean age: 7.8y ± 5.8, mean weight: 32 kg ±â€Š24.4, 46 % girls). The VCImax and the VCImin were significantly correlated with age (r = 0.867, p < 0.001, r = 0.797, p < 0.001), height (r = 0.840, p < 0.001, r = 0.772, p < 0.001), weight (r = 0.858, p < 0.001, r = 0.809, p < 0.001), and BSA (r = 0.878, p < 0.001, r = 0.817, p < 0.001). Correlations between the CI and age, weight, height, and BSA were not statistically significant. CONCLUSION: This prospective study provided reference values for sonographic measurements of VCI diameters in euvolemic children and might greatly assist in assessing fluid status in sick children.

Extracellular granzyme A in amniotic fluid is elevated in the presence of sterile intra-amniotic inflammation in preterm prelabor rupture of membranes.

INTRODUCTION: To determine the levels of granzyme A in amniotic fluid in pregnancies complicated by preterm prelabor rupture of membranes (PPROM), based on the presence of microbial invasion of the amniotic cavity (MIAC) and/or intra-amniotic inflammation (IAI). METHODS OF STUDY: A total of 166 women with singleton pregnancies complicated by PPROM were included. Amniocentesis was performed at the time of admission and assessments of MIAC (using both cultivation and non-cultivation techniques) and IAI (interleukin-6 in amniotic fluid) were performed on all subjects. Based on the presence/absence of MIAC and IAI, the women were further divided into the following subgroups: intra-amniotic infection, sterile IAI, colonization, and absence of both MIAC and IAI. Amniotic fluid granzyme A levels were assessed using ELISA. RESULTS: Women with MIAC had lower levels of granzyme A in the amniotic fluid than women without this condition (with MIAC: median 15.9 pg/mL vs. without MIAC: median 19.9 pg/mL, p = .03). Women with sterile IAI had higher amniotic fluid granzyme A levels than women with intra-amniotic infection, colonization and women with the absence of either MIAC or IAI (intra-amniotic infection: median 15.6 pg/mL; sterile IAI: median 31.8 pg/mL; colonization: median 16.9 pg/mL; absence of both MIAC and IAI: median 18.8 pg/mL; p = .02). CONCLUSIONS: The presence of sterile IAI was associated with elevated levels of granzyme A in amniotic fluid.

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.

Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms.

AIMS: Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threatening defects. The aim of the study was to reveal the possible influence of the parental origin of the X chromosome in these patients on a selected phenotype that is associated with Turner syndrome. Selected symptoms and parameters were: a bicuspid aortic valve, aortic coarctation, lymphoedema, pterygium colli, coeliac disease, thyroiditis, otitis media, diabetes mellitus 2, renal abnormalities, spontaneous puberty, and IVF. METHODS: The X chromosome haplotype was determined for a group of 45,X patients verified by native FISH. A molecular diagnostic method based on the detection of different lengths of X chromosome-linked STR markers using the Argus X-12 QS kit was used to determine the X haplotype. RESULTS: Our results, analysed by Fisher's exact (factorial) test, suggest independence between the maternal/paternal origin of the inherited X chromosome and the presence of the anomalies that were studied (P=1 to P=0.34). CONCLUSION: In the group of 45,X patients, who were precisely selected by means of the native FISH method, no correlation was demonstrated with the parental origin of the X chromosome and the observed symptom.

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.

Early Vascular Aging in Children With Type 1 Diabetes and Ambulatory Normotension.

Background: Preliminary data suggest that target organ damage (TOD) and early vascular aging (EVA) may occur in children with normal blood pressure (BP). Objectives: To analyze TOD and EVA in normotensive (BP <95th percentile on ambulatory BP monitoring) type 1 diabetes children (T1D) in comparison to healthy controls (C). Subjects: 25 T1D aged 13.9 ± 2.6 years and 22 C aged 14.0 ± 3.4 years. Methods: We analyzed age- and height-related pulse wave velocity (PWV) Z-scores and expected PWV based on age, height, and mean arterial pressure (MAP). Expected vascular age based on measured PWV was calculated from pooled pediatric and adult PWV norms. Left ventricular mass index (LVMI), estimated glomerular filtration rate (eGFR), and urinary albumin/creatinine ratio (ACR) were obtained as markers of TOD. Results: T1D and C groups did not differ in anthropometry, ambulatory, LVMI, and ACR. However, median age- and height-related PWV Z-scores were higher in T1D compared to C (1.08 vs. 0.57, p = 0.006; 0.78 vs. 0.36, p = 0.02, respectively). Mean (±SD) difference between measured and expected PWV was 0.58 ± 0.57 in T1D vs. 0.22 ± 0.59 in C, p = 0.02. The mean (±SD) difference between chronological and expected vascular age was 7.53 ± 7.74 years in T1D vs. 2.78 ± 7.01 years in C, p = 0.04. Conclusion: Increased arterial stiffness and increased intraindividual differences between expected and measured PWV as well as between chronological and expected vascular age indicate that EVA may develop in T1D children even at normal ambulatory BP levels.

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.

Can auscultatory blood pressure normative values be used for evaluation of oscillometric blood pressure in children?

The aim of the study was to analyze whether auscultatory normative values (Fourth Task Force [4TF]) can be applied to blood pressure (BP) obtained by oscillometric devices. The authors performed a retrospective analysis of oscillometric office BP and ambulatory BP monitoring in 229 children (116 boys), median age 15.31 years. Office systolic BP (SBP) and diastolic BP (DBP) values were converted into Z scores using 4TF and oscillometric (German Health Interview and Examination Survey for Children and Adolescent [KiGGS]) reference values. There was good correlation between the two normative methods (r=0.9773 for SBP, r=0.9627 for DBP). Results from Bland-Altman test revealed only minimal differences in Z scores between 4TF and KiGGS for SBP, but a significant proportional error for DBP. 4TF and KiGGS Z scores were equally predictive of ambulatory hypertension. In conclusion, auscultatory and oscillometric normative data are interchangeable for SBP but not for DBP.