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1.
Neuroepidemiology ; : 1-11, 2019 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-31302658

RESUMO

BACKGROUND: Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. OBJECTIVE: The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. METHODS: Anonymous individual data on cases of DW malformation diagnosed in 2002-2015 from 28 registries in 17 countries were included. Prevalence, prenatal detection rate, proportions and types of associated anomalies were estimated. Cases of DW variant were considered and analysed separately. RESULTS: Out of 8,028,454 surveyed births we identified a total of 734 cases, including 562 DW malformation cases and 172 DW variant cases. The overall prevalence of DW malformation was 6.79 per 100,000 births (95% CI 5.79-7.96) with 39.2% livebirths, 4.3% foetal deaths from 20 weeks gestational age, and 56.5% terminations of pregnancy after prenatal diagnosis of foetal anomaly at any gestation (TOPFA). The livebirth prevalence was 2.74 per 100,000 births (95% CI 2.08-3.61). The prenatal detection rate was 87.6%. Two-hundred and seventy-three cases (48.6%) had an isolated cerebral anomaly and 24.2, 19.2 and 5.5% cases were associated with other structural non-cerebral anomalies, chromosomal anomalies and genetic syndromes respectively. The prevalence of DW variant was 2.08 per 100,000 (95% CI 1.39-3.13). CONCLUSIONS: This European population-based study provides the epidemiological profile of DW malformation. All birth outcomes were analysed and TOPFA represented more than half of the cases. About 50% of the cases of DW malformation were associated with other non-cerebral anomalies. Large populations and all birth outcomes are essential in epidemiological studies of rare and severe congenital anomalies.

2.
Am J Med Genet A ; 179(9): 1791-1798, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31294928

RESUMO

Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991-2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14-4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011-2015 vs. 36% in 1991-1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia.

3.
Arch Dis Child ; 2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31243007

RESUMO

OBJECTIVES: To describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe. DESIGN AND SETTING: Congenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births). PARTICIPANTS: All birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014. MAIN OUTCOME MEASURES: Prevalence, proportion of associated non-cerebral anomalies, prenatal detection rate. RESULTS: 4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all cases were liveborn, 3% were fetal deaths and 41% resulted in TOPFA. Forty-eight per cent of all cases were an isolated cerebral anomaly, 25% had associated non-cerebral anomalies and 27% were chromosomal or part of a syndrome (genetic or teratogenic). The prevalence excluding genetic or chromosomal conditions increased by 2.4% per annum (95% CI: 1.3% to 3.5%), with the increases occurring only for congenital malformations of the corpus callosum (3.0% per annum) and 'other reduction deformities of the brain' (2.8% per annum). CONCLUSIONS: Only half of the cases were isolated cerebral anomalies. Improved prenatal and postnatal diagnosis may account for the increase in prevalence of congenital cerebral anomalies from 2005 to 2014. However, major differences in prevalence remain between regions.

4.
Am J Med Genet A ; 179(4): 595-601, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30740879

RESUMO

We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995-2011. Cases without chromosomal anomalies born during 2005-2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10-1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05-1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90-0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population-based study found a decreasing trend of congenital clubfoot in Europe after 1999-2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT.

5.
BMJ Open ; 8(7): e022190, 2018 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-30037879

RESUMO

INTRODUCTION: Cerebral palsy (CP), an umbrella term for non-progressive conditions of cerebral origin resulting in motor impairments, is collectively the most common cause of physical disability in childhood. Cerebral and/or non-cerebral congenital anomalies are present in 15%-40% of children with CP. In order to identify effective prevention strategies for this substantial proportion of CP, a comprehensive understanding of the epidemiology of these congenital anomalies is required. International collaboration is needed, as previous attempts have fallen short due to a lack of power, since the anomalies are individually rare and CP comprises many clinical descriptions. The aim of this study is to generate new knowledge about the aetiologies of CP through a focused investigation into the role of congenital anomalies. METHODS AND ANALYSIS: This collaborative, population-based data linkage study includes nine geographic regions (six in Europe, three in Australia) served by both congenital anomaly and CP registers. Register data for children with CP (both with and without congenital anomalies) and children with specific congenital anomalies (without CP) born between 1991 and 2009 will be linked and de-identified within each region. The resulting linked data sets will be quality assured, recoded, harmonised and then pooled into one data set. Analysis of the combined data set will include: frequencies/proportions of congenital anomalies and outcomes (type of CP, severity, impairments); descriptive analyses comparing timing of congenital anomaly development and brain injury/abnormality responsible for CP; ORs to calculate the odds of CP following a specific congenital anomaly; and identification of anomalies on causal pathways to CP. ETHICS AND DISSEMINATION: Ethics approval for this collaborative study, The Comprehensive CA-CP Study, has been obtained from the Cerebral Palsy Alliance Human Research Ethics Committee (EC00402). Study findings will be disseminated at conferences and published in peer-reviewed journals, and recommendations will be made regarding the collection and classification of congenital anomaly data by CP registers.

6.
BMC Pregnancy Childbirth ; 18(1): 231, 2018 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-29898683

RESUMO

BACKGROUND: The aim of the study was to estimate the proportion of women giving birth in two hospitals in the Region of Southern Denmark who did not attend the malformation scan and to elucidate the reasons for not participating. METHODS: In this register-based descriptive study, we used patient administration systems to identify women who had given birth at two Danish hospitals between March 2013 and January 2015. We then linked this information with the hospital database for fetal medicine (Astraia) to identify women who did not attend the malformation scan at week 18-20. We reviewed the medical records of these women to validate the data and to identify the reason for non-participation. RESULTS: Of 7690 births, 153 (2%) women did not attend the malformation scan. The main reason for non-participation was a passive deselection (81%). Most of these women were not present in Denmark at the time of the malformation scan (61%) and few women declined (8%). CONCLUSIONS: Less than 2% of a birth cohort in two major hospitals in Denmark did not attend the free offer of a malformation scan. Most of these women (81%) did not actively decide against the malformation scan. Very few (0.2%) declined the malformation scan. Non-attendance is not always due to an active decision made by the pregnant woman.

7.
BMJ ; 361: k2477, 2018 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-29941493

RESUMO

OBJECTIVE: To investigate whether exposure to metformin during the first trimester of pregnancy, for diabetes or other indications, increases the risk of all or specific congenital anomalies. DESIGN: Population based exploratory case-control study using malformed controls. Cases of 29 specific subgroups of non-genetic anomalies, and all non-genetic anomalies combined, were compared with controls (all other non-genetic anomalies or genetic syndromes). SETTING: 11 EUROmediCAT European congenital anomaly registries surveying 1 892 482 births in Europe between 2006 and 2013. PARTICIPANTS: 50 167 babies affected by congenital anomaly (41 242 non-genetic and 8925 genetic) including live births, fetal deaths from 20 weeks' gestation, and terminations of pregnancy for fetal anomaly. MAIN OUTCOME MEASURE: Odds ratios adjusted for maternal age, registry, multiple birth, and maternal diabetes status. RESULTS: 168 babies affected by congenital anomaly (141 non-genetic and 27 genetic) were exposed to metformin, 3.3 per 1000 births. No evidence was found for a higher proportion of exposure to metformin during the first trimester among babies with all non-genetic anomalies combined compared with genetic controls (adjusted odds ratio 0.84, 95% confidence interval 0.55 to 1.30). The only significant result was for pulmonary valve atresia (adjusted odds ratio 3.54, 1.05 to 12.00, compared with non-genetic controls; 2.86, 0.79 to 10.30, compared with genetic controls). CONCLUSIONS: No evidence was found for an increased risk of all non-genetic congenital anomalies combined following exposure to metformin during the first trimester, and the one significant association was no more than would be expected by chance. Further surveillance is needed to increase sample size and follow up the cardiac signal, but these findings are reassuring given the increasing use of metformin in pregnancy.

8.
Adv Neonatal Care ; 18(5): 413-422, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29746269

RESUMO

BACKGROUND: Healthcare professionals in neonatal intensive care units (NICUs) tend to focus attention on the mothers and the newborn infants. Thus, fathers may find it difficult to establish an optimal father-child relationship and their stress may increase and persist during hospitalization. PURPOSE: To investigate the impact of a more father-friendly NICU on paternal stress and their participation in childcare. METHODS: A quasiexperimental design was conducted on Danish-speaking fathers of newborn infants 28 or more weeks' gestational age. The Parental Stressor Scale: Neonatal Intensive Care Unit (PSS:NICU) was used to measure paternal perceptions of stressors. Paternal participation in childcare was measured using 7 additional items. The questionnaires were distributed on admission to the NICU, at the 14th day of hospitalization, and at the time of discharge. The primary outcome was the difference in the PSS:NICU overall stress score on admission to the NICU and at the time of discharge in the control group compared with the intervention group. RESULTS: A total of 109 fathers were included. The overall PSS:NICU stress score increased after the intervention. Paternal involvement, staff expectations, and the social expectation to fulfill the traditional role of a breadwinner and additionally of a caregiver may have caused increased stress. IMPLICATIONS FOR PRACTICE: Healthcare professionals must be aware of the father's need to be an equal coparent. Nurses, as key persons, should motivate and expect fathers to be involved, and support them to establish a father-child relationship, although they might become more stressed. IMPLICATIONS FOR RESEARCH: More adequate outcome measures are needed to determine the effect of interventions on paternal stress.

9.
Eur J Med Genet ; 61(9): 483-488, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29753093

RESUMO

Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6.4 million births. There were 99 cases with a diagnosis of septo-optic dysplasia. The prevalence of septo-optic dysplasia in Europe was calculated to lie between 1.9 and 2.5 per 100,000 births after adjusting for potential under-reporting in some registries. The prevalence was highest in babies of mothers aged 20-24 years of age and was significantly higher in UK registries compared with other EUROCAT registries (P = 0.021 in the multilevel model) and the additional risk for younger mothers was significantly greater in the UK compared to the rest of Europe (P = 0.027). The majority of septo-optic dysplasia cases were classified as an isolated cerebral anomaly (N = 76, 77%). Forty percent of diagnoses occurred in fetuses with a prenatal diagnosis. The anomaly may not be visible at birth, which is reflected in that 57% of the postnatal diagnoses occurred over 1 month after birth. This is the first population based study to describe the prevalence of septo-optic dysplasia in Europe. Septo-optic dysplasia shares epidemiological patterns with gastroschisis and this strengthens the hypothesis of vascular disruption being an aetiological factor for septo-optic dysplasia.

10.
Eur J Med Genet ; 61(9): 489-492, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29753919

RESUMO

In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County. The registry is based on multiple data sources and includes information about live births, fetal deaths with a gestational age >20 weeks and terminations of pregnancy after prenatal diagnosis of severe fetal anomaly. The study included all fetuses/infants out of a population of 182,907 births diagnosed with orofacial clefts born between 1980 and 2014. There were 271 cases diagnosed with cleft lip with or without cleft palate and 127 cases diagnosed with cleft palate, giving a prevalence of 14.8 per 10,000 births for cleft lip with or without cleft palate and 6.9 per 10,000 births for cleft palate. There were no significant changes in prevalence over time for the two anomalies, calculated with and without inclusion of genetic and chromosomal cases. Overall 66 cases were diagnosed prenatally (17% of total). For isolated cleft lip with or without cleft palate none of the 157 cases born before 2005 were diagnosed prenatally compared to 34 of 58 cases (59%) born in 2005-2014 (p < 0.01). The proportion of liveborn infants with multiple congenital anomalies also changed after 2005 with 15% (39/266) of all liveborn infants with orofacial clefts born 1980-2004 having multiple anomalies compared to 7% (7/96) in 2005-2014 (p < 0.05). The implementation of the new screening programme in 2005 has given a major change in prenatal detection rate and reduced the proportion of liveborn infants with orofacial clefts classified as multiple congenital anomaly cases. The prevalence of cleft lip with or without cleft palate was higher than reported from many other countries.

11.
Eur J Med Genet ; 61(9): 479-482, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29753923

RESUMO

Women with epilepsy need to continue to take anticonvulsants during their pregnancies to prevent seizures from occurring. Since the 1980's, it has been known that the use of valproate (an anticonvulsant) in the first trimester of pregnancy is associated with an increased risk of spina bifida. Recent studies have also demonstrated increased risks of other congenital anomalies as well as a risk of cognitive impairment. Doctors in the EU are now advised not to prescribe valproate in pregnant women, in women who can become pregnant or in girls unless other treatments are ineffective or not tolerated. This study aimed to determine if there has been a reduction in the numbers of babies born with valproate syndrome in Europe from 2005 to 2014. Data from 15 European congenital anomaly registries, who are members of EUROCAT (A European network of population-based registries for the epidemiologic surveillance of congenital anomalies), identified 28 cases of valproate syndrome in 2.74 million births from 2005 to 2014. The prevalence of valproate syndrome in Europe significantly decreased from 0.22 per 10,000 births in 2005/6 to 0.03 per 10,000 births in 2013/14. One registry, Ile de la Reunion, had the majority of cases (17). After excluding these cases there still remained a decreasing trend even though it no longer reached statistical significance due to the small number of cases. This study emphasises the continued need for European collaboration in analysing rare exposures and rare anomalies.

12.
PLoS One ; 13(4): e0194986, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29621304

RESUMO

BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. METHODS: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. RESULTS: Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. CONCLUSIONS: The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation.


Assuntos
Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/história , Europa (Continente)/epidemiologia , Feminino , História do Século XX , História do Século XXI , Humanos , Masculino , Vigilância da População , Gravidez , Prevalência , Sistema de Registros
13.
Eur J Med Genet ; 61(9): 513-517, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29597096

RESUMO

The European Commission through its Directorates-General Joint Research Centre (DG JRC) and Health and Food Safety (DG SANTE) is developing the European Platform on Rare Diseases Registration (EU RD Platform) with the objective to set European-level standards for data collection and data sharing. In the field of rare diseases the EU RD Platform will be a source of information on available rare disease patient data with large transnational European coverage. One main function of the EU RD Platform is to enable interoperability for the >600 existing RD registries in Europe. The second function is to offer a sustainable solution for two large European surveillance networks: European Surveillance of Congenital Anomalies (EUROCAT) and Surveillance of Cerebral Palsy in Europe (SCPE). EUROCAT is European network of population-based registries for the epidemiological surveillance of congenital anomalies. It covers about one third of the European birth population. The Central Database contains about 800,000 cases with congenital anomalies among livebirths, stillbirths and terminations of pregnancy, reported using the same standardised classification and coding. These high quality data enables epidemiological surveillance of congenital anomalies, which includes estimating prevalence, prenatal diagnosis and perinatal mortality rates and the detection of teratogenic exposures among others. The network also develops recommendations for primary prevention in the Rare Diseases National Plans for medicinal drugs, food/nutrition, lifestyle, health services, and environmental pollution. The network has received the European Commission's support since its inception. In order to offer a sustainable solution for the continuation of EUROCAT activities, it was agreed that EUROCAT would become part of the EU RD Platform. In 2015, the European level-coordination activities and the Central Database were transferred to the DG JRC, where the JRC-EUROCAT Central Registry is now located. This paper describes the functioning of EUROCAT in the new setting, and gives an overview of the activities and the organisation of the JRC-EUROCAT Central Registry.

14.
BMJ Open ; 8(2): e014972, 2018 02 24.
Artigo em Inglês | MEDLINE | ID: mdl-29478010

RESUMO

OBJECTIVES: To evaluate the risk of major congenital anomaly associated with first-trimester exposure to insulin analogues compared with human insulin in offspring of women with pregestational diabetes. DESIGN AND SETTING: A population-based cohort of women with pregestational diabetes (n=1661) who delivered between 1996 and 2012 was established retrospectively from seven European regions covered bythe European Surveillance of Congenital Anomalies (EUROCAT) congenital anomaly registries. PRIMARY OUTCOME MEASURES: The risk of non-chromosomal major congenital anomaly in live births, fetal deaths and terminations for a fetal anomaly exposed to insulin analogues in the first trimester of pregnancy was compared with the risk in those exposed to human insulin only. RESULTS: During the first trimester, 870 fetuses (52.4%) were exposed to human insulin only, 397 fetuses (23.9%) to insulin analogues only and 394 fetuses (23.7%) to both human insulin and insulin analogues. The risk of major congenital anomaly in fetuses exposed to insulin analogues only was lower than those exposed to human insulin only; the relative risk adjusted for glycaemic control and region was 0.56 (95% CI 0.29 to 1.06). The significantly lower risk related to exposure of insulin analogues only was observed in congenital heart defects: adjusted relative risk 0.14 (95% CI 0.03 to 0.62). CONCLUSIONS: In this retrospective population-based cohort study across Europe, first-trimester exposure to insulin analogues did not increase the risk of major congenital anomaly compared with exposure to human insulin. A possible lower risk of congenital heart defects among fetuses exposed to insulin analogues only deserves further investigation.


Assuntos
Anormalidades Congênitas/epidemiologia , Insulinas/efeitos adversos , Complicações na Gravidez/tratamento farmacológico , Gravidez em Diabéticas/tratamento farmacológico , Anormalidades Induzidas por Medicamentos/epidemiologia , Adulto , Europa (Continente)/epidemiologia , Feminino , Humanos , Recém-Nascido , Insulinas/uso terapêutico , Modelos Logísticos , Masculino , Gravidez , Resultado da Gravidez , Primeiro Trimestre da Gravidez , Efeitos Tardios da Exposição Pré-Natal , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
15.
Dan Med J ; 65(2)2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29393037

RESUMO

INTRODUCTION: Severe birth asphyxia is a major cause of neonatal morbidity and long-term disability and may be prevented. However, the consequences of organisational changes are rarely evaluated. 
Methods: A cohort study comparing morbidity and mortality for term-born infants born with severe birth asphyxia, defined as an Apgar score ≤ 5 at 5 min., before and after major changes in the organisation of births in a Danish district.
 Results: The study included 77 infants born in 1997-2004 and 40 infants born in 2009-2013 who were admitted to a neonatal intensive care unit with an Apgar score ≤ 5 at 5 min. The rate of severe birth asphyxia was 1.9 per 1,000 births in the early years and 2.5 per 1,000 births for the 2009-2013 period (p = 0.16). Mortality in the first three years of life with severe birth asphyxia was 0.24 per 1,000 births in 1997-2004 (ten deaths) and 0.06 per 1,000 births in 2009-2013 (one death) (p = 0.20). We observed a highly significant difference between the two periods in the proportion of infants with neonatal seizures and age at discharge after birth. The outcome of death or cerebral palsy was present in 17/77 (22%) in the early period and 3/40 (7.5%) in the more recent period (p < 0.05).
 Conclusions: Over a relative short time period, death and disability due to severe birth asphyxia at term decreased significantly. This improvement is most likely explained by changes in the organisation of births in the hospital uptake area. as well as in treatment 
Funding: none.
Trial registration: not relevant.


Assuntos
Asfixia Neonatal/mortalidade , Asfixia Neonatal/prevenção & controle , Salas de Parto/organização & administração , Índice de Apgar , Pré-Escolar , Estudos de Coortes , Dinamarca/epidemiologia , Crianças com Deficiência , Eficiência Organizacional , Feminino , Nível de Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Fatores de Risco
16.
Arch Dis Child Fetal Neonatal Ed ; 103(1): F22-F28, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28667189

RESUMO

OBJECTIVE: To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. DESIGN, SETTING AND OUTCOME MEASURES: EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status. RESULTS: According to WHO, 17%-42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. CONCLUSIONS: By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention.


Assuntos
Aborto Induzido/estatística & dados numéricos , Anormalidades Congênitas , Morte Fetal/prevenção & controle , Morte do Lactente/prevenção & controle , Diagnóstico Pré-Natal , Adulto , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Mortalidade Fetal , Idade Gestacional , Carga Global da Doença/métodos , Carga Global da Doença/estatística & dados numéricos , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez/epidemiologia , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Prevalência , Sistema de Registros/estatística & dados numéricos , Natimorto/epidemiologia
17.
Drug Saf ; 41(4): 415-427, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29230691

RESUMO

INTRODUCTION: The prevalence of chronic hypertension is increasing in pregnant women. Beta-blockers are among the most prevalent anti-hypertensive agents used in early pregnancy. OBJECTIVE: The objective of this study was to investigate whether first-trimester use of beta-blockers increases the risk of specific congenital anomalies in offspring. METHODS: A population-based case-malformed control study was conducted in 117,122 registrations of congenital anomalies from 17 European Concerted Action on Congenital Anomalies and Twins (EUROCAT) registries participating in EUROmediCAT with data for all or part of the period between 1995 and 2013. Associations previously reported in the literature (signals) were tested and an exploratory analysis was performed to identify new signals. Odds ratios of exposure to any beta-blocker or to a beta-blocker subgroup were calculated for each signal anomaly compared with two control groups (non-chromosomal, non-signal anomalies and chromosomal anomalies). The exploratory analyses were performed for each non-signal anomaly compared with all the other non-signal anomalies. RESULTS: The signals from the literature (congenital heart defects, oral clefts, neural tube defects and hypospadias) were not confirmed. Our exploratory analysis revealed that multi-cystic renal dysplasia had significantly increased odds of occurring after maternal exposure to combined alpha- and beta-blockers (adjusted odds ratio 3.8; 95% confidence interval 1.3-11.0). CONCLUSION: Beta-blocker use in the first trimester of pregnancy was not found to be associated with a higher risk of specific congenital anomalies in the offspring, but a new signal between alpha- and beta-blockers and multi-cystic renal dysplasia was found. Future large epidemiological studies are needed to confirm or refute our findings.


Assuntos
Anormalidades Induzidas por Medicamentos/etiologia , Antagonistas Adrenérgicos beta/efeitos adversos , Anti-Hipertensivos/efeitos adversos , Complicações na Gravidez/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Adulto , Estudos de Casos e Controles , Anormalidades Congênitas/etiologia , Feminino , Cardiopatias Congênitas/induzido quimicamente , Humanos , Razão de Chances , Gravidez , Primeiro Trimestre da Gravidez/efeitos dos fármacos , Prevalência , Sistema de Registros , Fatores de Risco , Adulto Jovem
18.
Paediatr Perinat Epidemiol ; 31(6): 549-559, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28841756

RESUMO

BACKGROUND: Gastroschisis, a congenital anomaly of the abdomen, is associated with young maternal age and has increased in prevalence in many countries. Maternal illness and medication exposure are among environmental risk factors implicated in its aetiology. METHODS: A population-based case-malformed control study was conducted using data from 18 European congenital anomaly registries, with information on first trimester medication use, covering 8 million births 1995-2012. 1577 gastroschisis cases (of which 4% stillbirths, 11% terminations of pregnancy) were compared to 153 357 non-chromosomal/monogenic controls. Literature review identified previous associations concerning maternal illness and medication exposure to be tested as signals. Logistic regression adjusted for maternal age group, registry, and time period was used to evaluate associations. RESULTS: Comparing gastroschisis to other congenital anomalies, the data supported signals concerning maternal depression (aOR 2.52, 95% CI 1.45, 4.39), antidepressant use (aOR 2.03, 95% CI 1.22, 3.38), postnatal depression/psychosis following a previous pregnancy (aOR 8.32, 95% CI 2.56, 27.01), sexually transmitted infections (aOR 2.85, 95% CI 1.13, 7.24), topical antivirals (aOR 5.31, 95% CI 1.63, 17.33), and continuation of oral contraceptives in early pregnancy (aOR 2.17, 95% CI 1.13, 4.18). Exploratory analyses suggested associations with a wider range of maternal infections and medications, including tonsillitis and the expectorant bromhexine. CONCLUSIONS: While it is difficult to disentangle the effects of the medication and underlying indication, our results add to the evidence base on preventable risk factors for gastroschisis. These risk factors may contribute to the higher risk among young mothers, and geographical and temporal variation in prevalence.


Assuntos
Antidepressivos/uso terapêutico , Anticoncepcionais Orais/uso terapêutico , Gastrosquise , Idade Materna , Primeiro Trimestre da Gravidez/efeitos dos fármacos , Doenças Sexualmente Transmissíveis , Adolescente , Antivirais/uso terapêutico , Estudos de Casos e Controles , Europa (Continente)/epidemiologia , Feminino , Gastrosquise/diagnóstico , Gastrosquise/epidemiologia , Humanos , Transtornos Mentais/diagnóstico , Transtornos Mentais/tratamento farmacológico , Gravidez , Prevalência , Fatores de Risco , Doenças Sexualmente Transmissíveis/epidemiologia , Doenças Sexualmente Transmissíveis/prevenção & controle , Adulto Jovem
19.
Environ Res ; 159: 39-45, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28763732

RESUMO

BACKGROUND: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. METHODS: Among 84,218 liveborn singletons (1997-2002) from the Danish National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO2) and noise from road traffic (Lden) burden during fetal life was modeled. Outcome and covariate data were derived from registries, hospital records and questionnaires. Odds ratios (ORs) for eleven major anomaly groups associated with road traffic pollution during first trimester were estimated using logistic regression with generalized estimating equation (GEE) approach. RESULTS: Most of the associations tested did not suggest increased risks. A 10-µg/m3 increase in NO2 exposure during first trimester was associated with an adjusted ORs of 1.22 (95% confidence interval: 0.98-1.52) for ear, face and neck anomalies; 1.14 0.98-1.33) for urinary anomalies. A 10-dB increase in road traffic noise was also associated with these subgroups of anomalies as well as with an increased OR for orofacial cleft anomalies (1.17, 0.94-1.47). Inverse associations for several both air pollution and noise were observed for atrial septal defects (0.85, 0.68-1.04 and 0.81, 0.65-0.99, respectively). CONCLUSIONS: Residential road traffic exposure to noise or air pollution during pregnancy did not seem to pose a risk for development of congenital anomalies.


Assuntos
Poluição do Ar/efeitos adversos , Anormalidades Congênitas/epidemiologia , Ruído dos Transportes/efeitos adversos , Poluição do Ar/análise , Estudos de Coortes , Anormalidades Congênitas/etiologia , Dinamarca/epidemiologia , Feminino , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Dióxido de Nitrogênio/efeitos adversos , Dióxido de Nitrogênio/análise , Razão de Chances , Gravidez , Prevalência , Medição de Risco
20.
Birth Defects Res ; 109(6): 452-459, 2017 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-28398707

RESUMO

BACKGROUND: The objective was to study pregnancy outcomes between groups of Danish women, with pregnancy ending between 1998 and 2009, according to their exposure to montelukast. METHODS: Cross-sectional observational study in Danish women, selecting live births and stillbirths (Birth Registry) and spontaneous abortions and induced terminations (Patient Registry). Montelukast exposure was obtained from the Prescription Registry (ATC code R03DC03). Exposure period was from 3 months before the last menstrual period until the end of the first trimester. Four groups were studied: (1) women with prescription for montelukast, (2) women with prescription for montelukast and other anti-asthmatic medications, (3) women with prescription for other anti-asthmatic medications, (4) women without prescription for any anti-asthmatic medications. RESULTS: A total of 754,300 singleton pregnancies (> 12 weeks) were identified: 401 pregnancies in group 1, 426 pregnancies in group 2, 24878 in group 3 and 728,595 in group 4. Risk of preterm birth, maternal preeclampsia and gestational diabetes was increased for pregnancies exposed to montelukast. No significant differences were found for the risk of major congenital anomalies (CA). Adjusted odds ratio for CA was 1.4 (95% CI 0.9-2.3) for the group 1 and 1.0 (95% CI 0.6-1.8) for group 2. CONCLUSION: Pregnant women with prescriptions for montelukast had a higher risk of preterm birth and maternal complications. These risks are known to be associated with maternal asthma, no increased risk of CA was found. Further analysis including more exposed pregnancies will be needed to determine the risk of specific CA. Birth Defects Research 109:452-459, 2017. © 2017 Wiley Periodicals, Inc.


Assuntos
Acetatos/efeitos adversos , Quinolinas/efeitos adversos , Anormalidades Induzidas por Medicamentos/metabolismo , Antiasmáticos/uso terapêutico , Asma/tratamento farmacológico , Anormalidades Congênitas/etiologia , Estudos Transversais , Dinamarca/epidemiologia , Feminino , Humanos , Razão de Chances , Gravidez , Complicações na Gravidez/tratamento farmacológico , Resultado da Gravidez/epidemiologia , Primeiro Trimestre da Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Sistema de Registros
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