Malformations Registry Research Articles

Epidemiology of congenital malformations in Tunisian liveborns: a retrospective study

Objective: To identify the various congenital malformations in liveborns in the neonatology service within the center of maternity and neonatology of Tunis (CMNT). Methods: This is a retrospective study of liveborns with congenital malformations hospitalized during one year from 1rst January to 31 December 2016. Results: The profile of malformations was dominated by polymalformations (22.29%), followed by chromosomal aberrations (21.14%), cardiovascular malformations (16.00%), and system nervous malformations (11.43%). Comparisons of liveborns and parental characteristics between all congenital malformations subtypes have shown significant differences in liveborns sex, consanguinity, and maternal age. Comparisons between malformed newborns and malformed fetuses have shown significant differences in consanguinity, rhesus type, maternal origin and parity. Conclusion: It seems important to set a careful surveillance of pregnancies at risk of developing congenital anomalies, systematic supplementation of vitamins and folic acid, and a national registry of congenital malformations. Keywords: Congenital malformations; liveborns; risk factors; prevention; Tunisia.

Climate Change and Congenital Anomalies: A Population-Based Study of the Effect of Prolonged Extreme Heat Exposure on the Risk of Neural Tube Defects in France.

Exposure to long-lasting extreme ambient temperatures in the periconceptional or early pregnancy period might increase the risk of neural tube defects (NTDs). We tested whether prolonged severe heat exposure as experienced during the 2003 extreme heatwave in France, affected the risk of NTDs. We retrieved NTD cases spanning from January 1994 to December 2018 from the Paris Registry of Congenital Malformations. The 2003 heatwave was characterized by the long duration and high intensity of nine consecutive days with temperatures ≥35°C. We classified monthly conceptions occurring in August 2003 as "exposed" to prolonged extreme heat around conception (i.e., periconceptional period). We assessed whether the risk of NTDs among cohorts exposed to the prolonged severe heatwave of 2003 in the periconceptional period differed from expected values using Poisson/negative binomial regression. We identified 1272 NTD cases from January 1994 to December 2018, yielding a monthly mean count of 4.24. Ten NTD cases occurred among births conceived in August 2003. The risk of NTD was increased in the cohort with periconceptional exposure to the August 2003 heatwave (relative risk = 2.14, 95% confidence interval: 1.46 to 3.13), compared to non-exposed cohorts. Sensitivity analyses excluding July and September months or restricting to summer months yielded consistent findings. Evidence from the "natural experiment" of an extreme climate event suggests an elevated risk of NTDs following exposure to prolonged extreme heat during the periconceptional period.

Infertility following trisomic pregnancies: A nationwide cohort study.

To study whether gynecologic or reproductive disorders show association with trisomic conceptions. This nationwide cohort study utilized the Registry of Congenital Malformations to identify women who had a trisomic pregnancy (n = 5784), either with trisomy 13 (T13; n = 351), trisomy 18 (T18; n = 1065) or trisomy 21 (T21; n = 4369) from 1987 to 2018. We used the Finnish Maternity cohort to match the cases to population controls (n = 34 422) on the age, residence, and timing of pregnancy. These data were cross-linked to the ICD-10 diagnoses of the national Care Registry for Health Care data on specialized health care in Finland during 1996 to 2019. Both inflammatory (ICD-10 diagnoses: N70-N77) and noninflammatory disorders of the genital tract (N80-N98) were studied. Crude odds ratios (ORs) with 95% CIs were calculated for associations between diagnoses and trisomic conceptions. The diagnosis of female infertility (N97) at any time was associated with trisomic conceptions (OR: 1.19, 95% CI: 1.08-1.32). In the subgroup analysis, this association was found for T18 (OR: 1.29, 95% CI: 1.03-1.61) and T21 (OR: 1.17, 95% CI: 1.04-1.32), but not for T13 (OR: 1.15, 95% CI: 0.75-1.72). When restricting the timing of the diagnosis of female infertility, an elevated OR was found only after the index pregnancy (OR: 1.81, 95% CI: 1.56-2.09). These increased odds for infertility after trisomic conceptions were observed both in women <35 years (T18 OR: 1.91, 95% CI: 1.21-3.00; T21 OR: 1.68, 95% CI: 1.31-2.14) and in women ≥35 years (T18 OR: 2.17, 95% CI: 1.40-3.33; T21 OR: 1.87; 95% CI: 1.47-2.39), but not after T13 conceptions. Our observational data suggest a link between trisomic conceptions and subsequent diagnoses of infertility but do not demonstrate causality. These data implicate that partially similar mechanisms might predispose to trisomy and infertility, regardless of maternal age.

ASPECTS EPIDEMIOLOGIQUES ET DIAGNOSTIQUES DES MALFORMARTIONS CONGENITALES OBSERVEES DANS DEUX SERVICES DE CHIRURGIE A DAKAR

Congenital malformations pose a real social, economic, coding and prognosis problem in our developing countries. Objectives. To list congenital malformations in two surgical departments of the University Hospital of Dakar and to search for etiological factors. Patients and methods. This was a prospective study in which we collected 100 cases of congenital malformations in a pediatric population during 13 months (January 2013 to January 2014) in the Neurosurgery Department of the Fann University Hospital and the Pediatric Surgery Department of the Aristide Le Dantec University Hospital. Epidemiological and diagnostic parameters were studied. Results. The most represented age group was that of children aged 0 to 4 years (n=87) with an average age of 1.47 years, the predominance of males was clear 68% with a sex ratio of 2.19. The notion of consanguineous marriage was reported in (61%) of cases with (57%) of cases of 2nd degree and (4%) of cases of 3rd degree. Wolofs were the most affected by congenital malformations (42%). The Dakar region was the most represented (37%). The socioeconomic level was low in (75%) of cases. In (93%) of cases, the parents of malformed children said they had no dea about the problem. The congenital malformations encountered were mainly hydrocephalusand visceral diso rders. We noted (13%) of deaths in our study. Conclusion. malformations are of multifactorial origin, which makes it necessary to set up a register of congenital malformations in order to monitor the prevalence, to detect rapidly variations in the frequency of an anomaly and to identify teratogenic factors. Key words: congenital malformations, hydrocephalus, visceral malformations, etiological factors, Dakar

Pregnancies in patients with systemic lupus erythematosus during 2000–2018 in Finland: a case–control study

ObjectivesThe aim was to investigate, how pregnancies proceed in patients with systemic lupus erythematosus (SLE) compared to their individually matched population controls.Material and methodsAdult incident SLE patients were identified from the register of new special reimbursement decisions for SLE drugs in 2000–2014. For each patient, 1–3 randomly selected controls from the Population Register Centre were matched. Data regarding pregnancies were obtained from the Finnish Medical Birth Register, Care Register and Register of Congenital Malformations until 2018. The study utilized data from the Drug Purchase Register and educational information from Statistic Finland.ResultsA total of 163 deliveries for 103 mothers with SLE and 580 deliveries for 371 population controls were identified. The duration of pregnancies in SLE women was significantly shorter compared to controls (38.9 versus 39.6 weeks). There were more urgent Caesarean Sections. (15% versus 9%) and need for care at neonatal intensive care unit (NICU) (21% versus 11%) among deliveries in SLE mothers. No statistical difference was observed between SLE and control groups in the occurrence of preeclampsia or major congenital malformations. Gestational age was 2.5 weeks shorter when the mother experienced pre-eclampsia. Hydroxychloroquine was purchased by 30% of SLE mothers during pregnancy.ConclusionThe course of pregnancies in Finnish SLE patients seems to be quite moderate compared to controls, and no new safety issues were detected. The low utilization of hydroxychloroquine indicates that the benefits of the drug to pregnancy and disease course are not optimally recognized by specialists treating SLE mothers.

Population-based surveillance of congenital anomalies over 40 years (1981–2020): Results from the Paris Registry of Congenital Malformations (remaPAR)

IntroductionRegistries of congenital anomalies (CAs) play a key role in the epidemiological surveillance of CAs. The objective was to estimate the prevalence of CAs and proportions of prenatal diagnosis, terminations of pregnancy for fetal anomaly (TOPFA) and infant mortality in the Paris Registry of Congenital Malformations (remaPAR) over 40 years, from 1981 to 2020. Material and methodsremaPAR records all births (live births, stillbirths ≥22 weeks of gestation and TOPFA at any gestational age) with CAs detected prenatally until the early neonatal period. We estimated the prevalence of CAs and proportions of prenatal diagnosis, TOPFA and infant mortality, overall and for a selected group of CAs in 3-year intervals. ResultsThe prevalence of CAs remained stable during the study period: 2.9 % of total births and 2.1 % of live births. Genetic anomalies were the most frequent subgroup (about 23 %), followed by congenital heart defects (about 22 %) and limb defects (about 20 %). Among non-genetic anomalies, the prevalence per 10,000 births was the highest for hypospadias (about 18 %) and the lowest for bilateral renal agenesis (about 1 %). Prenatal diagnoses increased from about 17 % in the 1980s to approximately 70 % in the most recent period (2018–2020), whereas the proportion of early TOPFA <16 weeks of gestation increased from 0.4 % to 14 %. Infant mortality ranged from 0 % for transverse limb reduction defects to 86 % for hypoplastic left heart syndrome. ConclusionThe overall prevalence of CAs was fairly stable in Paris from 1981 to 2020. Prenatal diagnoses substantially increased, accompanied by much smaller increases in TOPFA.

Maternal risk factors for congenital vertebral formation and mixed defects: A population-based case-control study.

The etiology and risk factors of congenital vertebral anomalies are mainly unclear in isolated cases. Also, there are no reports on the risk factors for different subgroups of vertebral anomalies. Therefore, we assessed and identified potential maternal risk factors for these anomalies and hypothesized that diabetes, other chronic diseases, smoking, obesity, and medication in early pregnancy would increase the risk of congenital vertebral anomalies. All cases with congenital vertebral anomalies were identified in the Finnish Register of Congenital Malformations from 1997 to 2016 for this nationwide register-based case-control study. Five matched controls without vertebral malformations were randomly selected. Analyzed maternal risk factors included maternal age, body mass index, parity, smoking, history of miscarriages, chronic diseases, and prescription drug purchases in early pregnancy. The register search identified 256 cases with congenital vertebral malformations. After excluding 66 syndromic cases, 190 non-syndromic malformations (74 formation defects, 4 segmentation defects, and 112 mixed anomalies) were included in the study. Maternal smoking was a significant risk factor for formation defects (adjusted odds ratio 2.33, 95% confidence interval 1.21-4.47). Also, pregestational diabetes (adjusted odds ratio 8.53, 95% confidence interval 2.33-31.20) and rheumatoid arthritis (adjusted odds ratio 13.19, 95% confidence interval 1.31-132.95) were associated with mixed vertebral anomalies. Maternal pregestational diabetes and rheumatoid arthritis were associated with an increased risk of mixed vertebral anomalies. Maternal smoking increases the risk of formation defects and represents an avoidable risk factor for congenital scoliosis. III.

Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies

BackgroundCongenital clubfoot is a fairly common and severe congenital malformation, most often of idiopathic origin. A smaller percentage of cases is related to chromosomal abnormalities and genetic syndromes. It is estimated that 0.5/1000 newborns are affected worldwide, with a male to female ratio of 2:1 and greater distribution in developing countries (80%). The “European Surveillance of Congenital Anomalies (EUROCAT)” reported clubfoot prevalence in European newborns, but data regarding Italy are missing or poor. We aim to provide detailed data on clubfoot incidence according to the Apulian Regional Registry on Congenital Malformations and to report current knowledge on clubfoot genetic factors.MethodsWe extrapolated data from the Regional Registry of Congenital Malformations to evaluate incidence and prevalence of congenital clubfoot in Apulia, Italy over a period of four years (2015–2018). We also performed a narrative review focusing on genetic mutations leading to congenital clubfoot.ResultsOver the period from 2015 to 2018 in Apulia, Italy, 124,017 births were recorded and 209 cases of clubfoot were found, accounting for an incidence rate of 1.7/1,000 and a prevalence rate of 1.6/1,000. Six families of genes have been reported to have an etiopathogenetic role on congenital clubfoot.ConclusionsIncidence and prevalence of congenital clubfoot in Apulia, Italy, are comparable with those reported in the other Italian regions but higher than those reported in previous studies from Europe. Genetic studies to better classify congenital clubfoot in either syndromic or isolated forms are desirable.

Gestational diabetes is associated with the risk of offspring’s congenital anomalies: a register-based cohort study

BackgroundGestational diabetes mellitus (GDM) is a common pregnancy-related disorder and a well-known risk factor for adverse pregnancy outcomes. There are conflicting findings on the association of GDM with the risk of congenital anomalies (CAs) in offspring. In this study, we aimed to determine study whether maternal GDM is associated with an increased risk of major CAs in offspring.MethodsThis Finnish Gestational Diabetes (FinnGeDi) register-based study included 6,597 women with singleton pregnancies and a diagnosis of GDM and 51,981 singleton controls with no diabetes identified from the Finnish Medical Birth Register (MBR) in 2009. Data from MBR were combined in this study with the Register of Congenital Malformations, which includes the data of CAs. We used logistic regression to calculate odds ratios (OR) for CAs, together with their 95% confidence intervals (CIs), adjusting for maternal age, parity, pre-pregnancy body mass index (BMI), and maternal smoking status.ResultsThe risk of major CAs was higher in the GDM-exposed (n = 336, 5.09%) than in the non-exposed group (n = 2,255, 4.33%) (OR: 1.18, 95% CI: 1.05–1.33, p = 0.005). The adjusted OR (aOR) was 1.14 (95% CI: 1.00-1.30, p = 0.047). There was a higher overall prevalence of CAs, particularly chromosomal abnormalities (0.52% vs. 0.21%), in the GDM-exposed group (OR: 2.49, 95% Cl: 1.69–3.66, p < 0.001). The aOR was 1.93 (95% Cl: 1.25–2.99, p = 0.003).ConclusionsOffspring exposed to GDM have a higher prevalence of major CAs. Of note, risk factors other than GDM, such as older maternal age and a higher pre-pregnancy BMI, diminished the between group differences in the prevalence of major CAs. Nevertheless, our findings suggest that offspring exposed to maternal GDM are more likely to be diagnosed with a chromosomal abnormality, independent of maternal age, parity, pre-pregnancy BMI, and smoking.

Postnatal diagnosis of congenital anomalies despite active systematic prenatal screening policies: a population-based registry study

Prenatal screening for congenital anomalies is an important component of maternity care, with continual advances in screening technology. However, few recent studies have investigated the overall effectiveness of a systematic policy of prenatal screening for congenital anomalies, such as in France where an ultrasound per trimester is recommended for all pregnant individuals. This study aimed to assess the proportion and the type of congenital anomalies that are not detected during pregnancy. The study population included all singleton fetuses and newborns with congenital anomalies from the Paris Registry of Congenital Malformations (remaPAR) from 2001 to 2021. The registry includes all live births and stillbirths at ≥22 weeks of gestation and terminations of pregnancy for fetal anomaly at any gestational age with congenital anomalies diagnosed from the prenatal period until discharge home from hospital after birth. The prevalence of postnatally detected congenital anomalies was estimated overall and for 5-year intervals within the study period. We also reported the proportion of postnatal detection by subgroups of congenital anomalies according to the EUROCAT classification. Of the 16,602 malformed singleton fetuses and newborns, 32.7% were detected postnatally. Of those with severe anomalies, 11.9% were detected postnatally. The postnatal detection rate decreased from 34.3% from 2001 to 2005, to 27.8% from 2016 to 2021 (P<.001). Anomalies most frequently detected postnatally were genital anomalies (n=969; 87.0%), followed by ear, neck, and face anomalies (n=71; 78.0%), eye anomalies (n=154; 74.0%), and limb anomalies (n=1802; 68.4%). Anomalies of the kidneys and the urinary tract (n=219; 7.1%) and the abdominal wall (n=37; 8.7%) were least likely to be detected after birth. Among the anomalies classified as severe, postnatal detection rates were highest for limb reduction defects (n=142; 40.6%), complete transposition of the great arteries (n=31; 17.6%), and diaphragmatic hernia (n=26; 17.2%). Despite improvement of prenatal screening over a 20-year period, our results show that there is still a margin for improvement in prenatal diagnosis of congenital anomalies.

Educational achievement of children with selected major congenital anomalies and associated factors: a Finnish registry-based study.

Children with major congenital anomalies may be at risk of poor educational outcomes. We aimed to evaluate the educational achievement of children born with major congenital anomalies compared with children without major congenital anomalies in relation to sociodemographic factors. We performed a registry-based study including 401544 children in Finland, graduates of the compulsory school who applied to secondary education. We used health data from the Finnish Register of Congenital Malformations for children born from 1995 to 2002 linked with education data from the Finnish Ministry of Education and Culture. We used generalized linear regression to compare the mean grade differences of children with specific major congenital anomalies and 'All anomalies' subgroup (major congenital anomalies, chromosomal syndromes, and multiple anomalies) with reference children. Children with major congenital anomalies were less likely to apply for further education than reference children (88.0% vs. 96.8%; odds ratio = 4.13; 95% confidence interval, 3.92-4.36). For most non-chromosomal congenital anomalies, children born with congenital anomalies had similar educational achievement to the reference children. For the 'All anomalies' subgroup, children with congenital anomalies had lower educational achievement than reference children. Among children with congenital anomalies, male sex, lower maternal educational levels and younger maternal age were associated with lower educational achievement. For children applying to further education, most non-chromosomal congenital anomalies were not associated with lower educational achievement. Nevertheless, efforts are needed to improve educational achievement in children with major congenital anomalies associated with maternal sociodemographic background.

P-774 Congenital Heart Disease in Children Born after Assisted Reproductive Technology: A Nordic Cohort Study.

Abstract Study question Do children conceived after assisted reproductive technology (ART) have a higher risk of Congenital Heart Disease (CHD) in comparison with children born after spontaneous conception? Summary answer Children born after ART have a higher risk of a major CHD compared with children born after spontaneous conception. What is known already It is well-known that children born after ART have higher risk of birth defects compared to children born after spontaneous conception. Congenital heart disease (CHD) is the most common birth defect, accounting for almost 50% of all major birth defects. Several cohort studies and systematic reviews have also found an increased risk of CHD in children born after ART, a recent review included 41 studies and 25 856 ART children covering CHDs in ART children. Conflicting results have been reported for specific CHDs. Study design, size, duration This Nordic registry-based cohort study from CoNARTaS (Committee of Nordic ART and Safety) included 171 774 live births born after use of ART and 7 772 474 live births born after spontaneous conception during a study period of up to three decades (Denmark 1994-2014, Finland 1990-2014, Norway 1984-2015, and Sweden 1985-2015). National data from ART registries, medical birth registries, malformation registries, patient registries, cause of death registries, and population registries were crosslinked. Participants/materials, setting, methods International Classification of Diseases (ICD) versions 8, 9, 10 were used for CHD codes at birth and up to one year of age. Major CHDs were defined according to European Concerted Action on Congenital Anomalies and Twins (EUROCAT). According to EUROCAT, 26 of the major CHDs were considered as severe. All major CHDs were further classified into six different groups in a hierarchical order. Minor CHDs as well as stillbirths and pregnancy terminations were excluded. Main results and the role of chance Data from Sweden included a total of 3 228 526 singletons and multiples; 62 243 children conceived after use of ART and 3 166 283 children after spontaneous conception. Among ART children, 2.27% (n = 1411) were diagnosed with any major non-chromosomal CHD during their first year of life, corresponding figures for children born after spontaneous conception was 1.43% (n = 45 310) (Odds Ratio [OR] 1.60; 95% Confidence Interval (CI) 1.51 to 1.69, p &amp;lt; 0.0001). Severe CHD occurred in 0.40% (n = 249) in the ART group and 0.31% (n = 9 795) in the spontaneous conception group (OR 1.29; 95% CI 1.14 to 1.47, p &amp;lt; 0.0001). Ventricular septal defect was the most common CHD, 0.97% (n = 603) in the ART vs 0.64% (n = 20 343) in the spontaneous conception group (OR 1.51; 95% CI 1.39 to 1.64, p &amp;lt; 0.0001), followed by atrial septal defect; 0.84% (n = 525) in the ART and 0.42% (n = 13 363) in the spontaneous conception group (OR 2.00; 95% CI 1.83 to 2.19, p &amp;lt; 0.0001). Limitations, reasons for caution This analysis included only non-adjusted Swedish data. Further analysis will include Danish, Finnish, and Norwegian data with adjustments, and subgroup analysis on singletons and multiples. No data are available on prenatal diagnosis, or pregnancies not ending to a live birth. A skewed distribution in these outcomes might introduce a bias. Wider implications of the findings Pregnancies conceived after use of ART may benefit from screening with fetal echocardiography. Although most children with CHD reach adulthood, the mortality rate is still high for this group during the first years of life. Early detection with antenatal diagnosis and pre/postnatal intervention may be beneficial and improve the outcome. Trial registration number Not applicable

Maternal Risk Factors for Congenital Vertebral Anomalies: A Population-Based Study.

The spectrum of congenital vertebral defects varies from benign lesions to severe, life-threatening conditions. The etiology and maternal risk factors remain mainly unclear in isolated cases. Hence, we aimed to assess and identify potential maternal risk factors for these anomalies. Based on previous studies, we hypothesized that maternal diabetes, smoking, advanced maternal age, obesity, chronic diseases, and medication used during the first trimester of pregnancy might increase the risk of congenital vertebral malformations. We performed a nationwide register-based case-control study. All cases with vertebral anomalies (including live births, stillbirths, and terminations for fetal anomaly) were identified in the Finnish Register of Congenital Malformations from 1997 to 2016. Five matched controls from the same geographic region were randomly selected for each case. Analyzed maternal risk factors included age, body mass index (BMI), parity, smoking, history of miscarriages, chronic diseases, and prescription drugs dispensed during the first trimester of pregnancy. In total, 256 cases with diagnosed congenital vertebral anomalies were identified. After excluding 66 malformations associated with known syndromes, 190 nonsyndromic malformation cases were included. These were compared with 950 matched controls. Maternal pregestational diabetes was a significant risk factor for congenital vertebral anomalies (adjusted odds ratio [OR], 7.30 [95% confidence interval (CI), 2.53 to 21.09). Also, rheumatoid arthritis (adjusted OR, 22.91 [95% CI, 2.67 to 196.40]), estrogens (adjusted OR, 5.30 [95% CI, 1.57 to 17.8]), and heparins (adjusted OR, 8.94 [95% CI, 1.38 to 57.9]) were associated with elevated risk. In a sensitivity analysis using imputation, maternal smoking was also significantly associated with an elevated risk (adjusted OR, 1.57 [95% CI, 1.05 to 2.34]). Maternal pregestational diabetes and rheumatoid arthritis increased the risk of congenital vertebral anomalies. Also, estrogens and heparins, both of which are frequently used in assisted reproductive technologies, were associated with an increased risk. Sensitivity analysis suggested an increased risk of vertebral anomalies with maternal smoking, warranting further studies. Prognostic Level III . See Instructions for Authors for a complete description of levels of evidence.

Analysis of the factors which may have influenced the incidence of congenital malformations in children born in the province of Warmia and Mazury between 1999 and 2000

&lt;b&gt;Introduction.&lt;/b&gt; Congenital malformations have been known about for ages, but the reasons for their development have always been shrouded in mystery. All efforts to explain such reasons as to relating to the natural forces of God’s revenge have not stood the test of time. Still, the knowledge concerning the aetiology of malformations is not complete; we know, however, about many factors which may contribute to their development during various stages of embryogenesis. &lt;b&gt;Aim.&lt;/b&gt; The aim of this paper is the analysis of specific factors which may have contributed to the development of congenital malformations in children born in the Province of Warmia and Mazury between the years 1999 and 2000. &lt;b&gt;Materials and methods.&lt;/b&gt; The author of this paper, who is involved in the creation of the Polish Register of Congenital Malformations (PRCM), evaluated case records of newborns who had been reported to have been born with congenital malformations. The data recorded in this Register, maintained by the Chair and Department of Medical Genetics at the Medical Academy (at present Medical University) in Poznań, was verified by specialists, and later analysed according to the methodological principles of this work. The analysis included: fetal age and birth weight, mother’s age and education, as well as mother’s place of residence. Statistical analysis was carried out by means of Statistica v.6.1 software. &lt;b&gt;Results and discussion.&lt;/b&gt; Congenital malformations were found in 276 boys, with a malformations incidence factor of 166.8/10000 for boys, and in 212 girls, the malformations incidence factor being 136.2/10000 for girls. The higher incidence of congenital malformations in boys was caused by a nearly 10 times higher incidence of urinary system defects. The incidence of congenital malformations in newborns whose mothers resided in cities amounted to 132.9/10000 of newborns born in cities. The incidence of congenital malformations in newborns of mothers residing in the country was 141.9/10 000 of newborns born in the country. It was also noted that the incidence of congenital malformations was 2–3 times higher in children with low birth weight in comparison to the general population. The highest incidence of congenital malformations was found in those children whose mothers were 35 years of age or older at the time of giving birth. Advanced maternal age was the most significant factor in the development of malformations caused by chromosome aberrations. Creating a district map presenting the incidence of malformations may be the first step to further research concerning those specific geographical regions at high risk of congenital malformations. The highest incidence, irrespective of the type of malformation, was observed in the districts of: Mrągowo, Ostróda and Braniewo, whereas the lowest was found in the districts of: Ełk, Olecko and Gołdap, and Giżycko. &lt;b&gt;Conclusions.&lt;/b&gt; Having analysed all pertinent data, it was then concluded that: 1. Male sex correlates with the incidence of congenital malformations of the genitals. 2. Low birth weight correlates with an increased incidence of congenital malformations. 3. The incidence of congenital malformations in particular districts is diversified, pointing to the significance of necessary further research in order to identify those specific geographical locations having the highest malformations incidence factors.

Prevalence and One-Year Survival of Selected Major Congenital Anomalies in Germany: A Population-Based Cohort Study.

Congenital anomalies play an important role in infant mortality worldwide. The present study aims to present the current data on the prevalence rates and the 1-year survival rates for selected major congenital anomalies in Saxony-Anhalt, Germany. The data were collected systematically by the Malformation Monitoring Centre Saxony-Anhalt. Cohort from 2000 to 2017 was retrospectively analyzed to determine the prevalence rates and the survival rates of nine major congenital anomalies. The survival analysis was conducted, including all pregnancy outcomes and various risk factors. In total, 1,012 cases of the selected congenital anomalies were registered. The total prevalence rates ranged from 2.5 (congenital diaphragmatic hernia [CDH]) to 5.8 (spina bifida [SB]) per 10,000. The live birth prevalence was lower. In total, 88.3% of live-born cases survived the first year. The 1-year survival rate of all cases, including fetal losses, was merely 61.7%. There was no continual improvement in survival during the study period noted. The 1-year survival rate was 35.7% for "genetic" malformations, 57.6% for "multiple congenital anomalies," and 68.6% for "isolated" cases, with 44.6% for prenatally detected anomalies and 85.2% for postnatally identified anomalies. Gestational age less than 31 weeks and birth weight below 1,000 g affected the survival rate adversely. The survival rate of infants suffering from congenital anomalies in Saxony-Anhalt is comparable to that reported by national and international studies. Registering all pregnancy outcomes irrespective of whether they result in a live birth, stillbirth, or fetal loss in a malformation register seems to be important as it affects the statistical survival analysis in general.

Maternal risk factors for congenital anomalies of the kidney and urinary tract: A case-control study

Congenital anomalies of the kidney and urinary tract (CAKUT) are significant causes of pediatric morbidity and mortality. The spectrum of CAKUT can be part of a syndrome, but most of these abnormalities occur as isolated and sporadic forms. The etiology of human CAKUT is unknown in the majority of cases. This case-control study aimed to investigate the association between maternal characteristics and the occurrence of CAKUT and specific CAKUT phenotypes. In this case-control study, 29,653 newborns were evaluated consecutively in a tertiary neonatal unit using the Latin American Collaborative Study of Congenital Malformations (ECLAMC) registry. Newborns without congenital anomalies were matched to CAKUT cases by sex, date, and place of birth at a ratio of 3:1. For analysis purposes, the cases were stratified into four subgroups: upper tract abnormalities (UTA), including ureteropelvic junction obstruction, vesicoureteral reflux, primary megaureter and others (n=239), lower urinary tract obstruction (LUTO) (n=79), cystic diseases (n=59) and agenesis/hypodysplasia (n=28). Multivariable logistic regression analyses were used to calculate crude and adjusted odds ratios (ORs) with 95% confidence intervals (CIs) for associations between the maternal risk factors and the presence of CAKUT. The prevalence of non-syndromic CAKUT in our sample was 13 per 1000 live births. Data records allowed the analysis of 405 cases and 1208 controls. After adjustment by the binary regression logistic, three covariates remained associated as risk factors for the entire spectrum of CAKUT: consanguinity (Odds ratio [OR], 7.1, 95%CI, 2.4-20.4), family history of CAKUT (OR, 6.4, 95%CI, 1.9-21.3), and maternal chronic hypertension (OR, 14.69, 95%CI, 3.2-67.5) (Figure). These risk factors persisted consistently across the various CAKUT phenotypes with minor variations. Consanguinity was the only factor consistently associated with almost all CAKUT phenotypes. Maternal hypertension was associated with all phenotypes except for the agenesis/hypodysplasia group. The prevalence of CAKUT cases was 15 times higher in hypertensive mothers (3%) compared to normotensive mothers (0.2%). Our study suggests that an increased risk of CAKUT is associated with consanguinity, a positive family history of CAKUT, and maternal hypertension. However, the prevalence of these risk factors in our cohort was rare and most cases presented as sporadic forms.

Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.

Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence data in Finland during 1993-2008 to clarify the epidemiology nationwide in a population-based register study. We hypothesized that increasing maternal age would affect the total prevalence of each disorder. We collected information on all fetuses and infants affected by amelia and phocomelia during 1993-2008 from the National Register of Congenital Malformations in Finland. The clinical, laboratory, autopsy, and imaging data were re-evaluated where available for all cases found. A total of 23 amelia and 7 phocomelia patients were identified. Thalidomide was not an etiological factor in any of the cases. The total prevalence of amelia was 2.43 per 100,000 births. The live birth prevalence was 0.63 per 100,000 live births. The total prevalence of phocomelia was 0.74 per 100,000 births, and the live birth prevalence was 0.53 per 100,000 live births. Infant mortality in amelia and phocomelia was 67% and 60%, respectively. Infant mortality is high among amelia and phocomelia. Most cases had other major associated anomalies, but syndromic amelia cases were rare. Total prevalences were higher than previously reported and showed an increase in prevalence toward the end of the study period. The percentage of elective terminations of pregnancy for these disorders is high. While isolated cases are rare, they most likely present a better prognosis. Thus, correct diagnosis is essential in counseling for possible elective termination.

Epidemiological characteristics of congenital malformations: data from the Moscow Region register

The aim of this work is to analyze the epidemiology of congenital malformations in different populations in comparison with the data of the regional register of congenital malformations of the Moscow Region. The article provides a brief description and results of the work of international organizations that collect and analyze data on the prevalence and structure of congenital anomalies — EUROCAT (European network of population-based registries for the epidemiological surveillance of congenital anomalies) and ICBDSR (The International Clearinghouse for Birth Defects Surveillance and Research). For countries where there are no monitoring systems for congenital malformations recording, the Modell World Database of Congenital Diseases (MGDb) has been developed, which makes it possible to calculate the estimated population prevalence of congenital malformations in these regions. According to international registers, the most common groups of congenital malformations are malformations of the cardiovascular, genitourinary, central nervous systems and malformations of the extremities. To date, the epidemiological picture of the prevalence and structure of congenital malformations around the world looks stable.The article analyzes data from the population-based register of congenital malformations in the Moscow Region from 2011 to 2019, with a coverage of 83% of births in the region. The overall prevalence of congenital malformations was 25.42 per 1000 births. It is determined that the structure of congenital malformations in the Moscow Region is comparable to the data of international studies, but one should pay attention to the lower frequency of most groups of malformations, which is most likely due to insufficient registration of malformations. The Moscow Region register of congenital malformations provides relevant and qualitative data on the frequency and structure of the congenital malformations in the region, which allows, if necessary, to extrapolate obtained prevalence rates to other constituent entities of the Russian Federation as well.

Craniofacial microsomia - more than a structural malformation.

To analyse the prevalence and distribution of craniofacial microsomia (CFM) cases in Finland and their most frequent comorbidities. The second aim was to analyse the patients' need for specialized healthcare services. Data were gathered from two complementary registers: The Register of Congenital Malformations and the Care Register for Social Welfare and Health Care (Hilmo) of the Finnish Institute for Health and Welfare (THL). The prevalence of CFM patients in Finland was 1:10057. They were evenly distributed across the five university hospital districts. Their most frequently used ICD-10 diagnosis codes were F40-48 (Neurotic, stress-related and somatoform disorders), 60% of patients in adolescent and adult psychiatry; Q67.0 (Facial asymmetry), 43% in plastic surgery; Z00.4 (General psychiatric examination, not elsewhere classified), 31% in child psychiatry; Z31.5 (Genetic counselling), 28% in clinical genetics and Q67.40 (Other congenital deformities of the skull, face and jaw, Hemifacial atrophy), 18% in dental, oral and maxillofacial diseases. Of the patients, 70% had had visits in clinical genetics, 60% in plastic surgery, 41% in dental, oral and maxillofacial diseases, 28% in adolescent/adult psychiatry and 21% in child psychiatry. The majority of the patients' plastic surgery visits were concentrated in one university hospital. Other services were mainly provided by patients' own hospital districts. Even though the majority of CFM patients' visits in specialized healthcare services are related to correction of facial asymmetry and ear malformations, the obvious need for psychiatric care was apparent in all age groups.

Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based Study.

Congenital vertebral anomalies are a heterogeneous group of diagnoses, and studies on their epidemiology are sparse. Our aim was to investigate the national prevalence and mortality of these anomalies, and to identify associated anomalies. We conducted a population-based nationwide register study and identified all cases with congenital vertebral anomalies in the Finnish Register of Congenital Malformations from 1997 to 2016 including live births, stillbirths, and elective terminations of pregnancy because of major fetal anomalies. Cases were categorized based on the recorded diagnoses, associated major anomalies were analyzed, and prevalence and infant mortality were calculated. We identified 255 cases of congenital vertebral anomalies. Of these, 92 (36%) were diagnosed with formation defects, 18 (7.1%) with segmentation defects, and 145 (57%) had mixed vertebral anomalies. Live birth prevalence was 1.89 per 10,000, and total prevalence was 2.20/10,000, with a significantly increasing trend over time (P<0.001). Overall infant mortality was 8.2% (18/219); 3.5% (3/86) in patients with formation defects, 5.6% (1/18) in segmentation defects, and 12.2% (14/115) in mixed vertebral anomalies (P=0.06). Co-occurring anomalies and syndromes were associated with increased mortality, P=0.006. Majority of the cases (82%) were associated with other major anomalies affecting most often the heart, limbs, and digestive system. In conclusion, the prevalence of congenital vertebral anomalies is increasing significantly in Finnish registers. Detailed and systematic examination is warranted in this patient population to identify underlying comorbidities as the majority of cases are associated with congenital major anomalies. Level III.