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1.
Cancers (Basel) ; 16(11)2024 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-38893276

RESUMO

GCTs are developmental tumors and are likely to reflect ontogenetic and teratogenetic determinants. The objective of this study was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO 98 between 1996 and 2017 were included. According to Teilum's holistic concept, malignant and benign teratomas were registered. We used a case-control study design with Orphanet as a reference group for syndromic defects and the Mainz birth registry (EUROCAT) for congenital anomalies at birth. Co-occurring genetic syndromes and/or congenital anomalies were assessed accordingly. Odds ratios and 95% confidence intervals were calculated and p-values for Fisher's exact test with Bonferroni correction if needed. A strong association was confirmed for Swyer (OR 338.6, 95% CI 43.7-2623.6) and Currarino syndrome (OR 34.2, 95% CI 13.2-88.6). We additionally found 16 isolated cases of eGCT with a wide range of syndromes. However, these were not found to be significantly associated following Bonferroni correction. Most of these cases pertained to girls. Regarding non-syndromic defects, no association with eGCTs could be identified. In our study, we confirmed a strong association for Swyer and Currarino syndromes with additional congenital anomalies.

2.
Birth Defects Res ; 116(5): e2338, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38712918

RESUMO

BACKGROUND: Hirschsprung's disease is a rare congenital anomaly of the colon with absence of the ganglionic nerve cells. The treatment of the anomaly is surgical. METHODS: This population-based data-linkage cohort study was part of the EUROlinkCAT project and investigated mortality and morbidity for the first 5 years of life for European children diagnosed with Hirschsprung's disease. Nine population-based registries in five countries from the European surveillance of congenital anomalies network (EUROCAT) participated. Data on children born 1995-2014 and diagnosed with Hirschsprung's disease were linked to hospital databases. All analyses were adjusted for region and length of follow-up, which differed by registry. RESULTS: The study included 680 children with Hirschsprung's disease. One-year survival was 97.7% (95% CI: 96.4-98.7). Overall, 85% (82-87) had a code for a specified intestinal surgery within the first year increasing to 92% (90-94) before age 5 years. The median age at the first intestinal surgery up to 5 years was 28 days (11-46) and the median number of intestinal surgical procedures was 3.5 (3.1-3.9). Thirty days mortality after neonatal surgery (within 28 days after birth) was 0.9% (0.2-2.5) for children with a code for intestinal surgery within the first 28 days after birth and there were no deaths for children with a code for stoma surgery in the neonatal period. CONCLUSION: Children with Hirschsprung's disease have a high morbidity in the first 5 years of life requiring more surgical procedures in addition to the initial surgery. Mortality after neonatal surgery is low.


Assuntos
Doença de Hirschsprung , Sistema de Registros , Humanos , Feminino , Masculino , Lactente , Pré-Escolar , Recém-Nascido , Morbidade , Estudos de Coortes , Europa (Continente)
3.
J Am Heart Assoc ; 12(24): e029871, 2023 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-38108249

RESUMO

BACKGROUND: The purpose of this study was to evaluate the timing of the first cardiac surgery, the number of cardiac surgeries performed, and 30-day postoperative mortality rate for children with severe congenital heart defects (sCHDs) in their first 5 years of life. METHODS AND RESULTS: This was a population-based data linkage cohort study linking information from 9 European congenital anomaly registries to vital statistics and hospital databases. Data were extracted for 5693 children with sCHDs born from 1995 to 2004. Subgroup analyses were performed for specific types of sCHD. Children with sCHDs underwent their first surgical intervention at a median age of 3.6 (95% CI, 2.6-4.5) weeks. The timing of the first surgery for most subtypes of sCHD was consistent across Europe. In the first 5 years of life, children with hypoplastic left heart underwent the most cardiac surgeries, with a median of 4.4 (95% CI, 3.1-5.6). The 30-day postoperative mortality rate in children aged <1 year ranged from 1.1% (95% CI, 0.5%-2.1%) for tetralogy of Fallot to 23% (95% CI, 12%-37%) for Ebstein anomaly. The 30-day postoperative mortality rate was highest for children undergoing surgery in the first month of life. Overall 5-year survival for sCHD was <90% for all sCHDs, except transposition of the great arteries, tetralogy of Fallot, and coarctation of the aorta. CONCLUSIONS: There were no major differences among the 9 regions in the timing, 30-day postoperative mortality rate, and number of operations performed for sCHD. Despite an overall good prognosis for most congenital heart defects, some lesions were still associated with substantial postoperative death.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Cardiopatias Congênitas , Tetralogia de Fallot , Transposição dos Grandes Vasos , Criança , Humanos , Recém-Nascido , Estudos de Coortes , Cardiopatias Congênitas/cirurgia , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Europa (Continente)/epidemiologia
4.
Artigo em Inglês | MEDLINE | ID: mdl-36901396

RESUMO

Little is known about morbidity for children with rare structural congenital anomalies. This European, population-based data-linkage cohort study analysed data on hospitalisations and surgical procedures for 5948 children born 1995-2014 with 18 rare structural congenital anomalies from nine EUROCAT registries in five countries. In the first year of life, the median length of stay (LOS) ranged from 3.5 days (anotia) to 53.8 days (atresia of bile ducts). Generally, children with gastrointestinal anomalies, bladder anomalies and Prune-Belly had the longest LOS. At ages 1-4, the median LOS per year was ≤3 days for most anomalies. The proportion of children having surgery before age 5 years ranged from 40% to 100%. The median number of surgical procedures for those under 5 years was two or more for 14 of the 18 anomalies and the highest for children with Prune-Belly at 7.4 (95% CI 2.5-12.3). The median age at first surgery for children with atresia of bile ducts was 8.4 weeks (95% CI 7.6-9.2) which is older than international recommendations. Results from the subset of registries with data up to 10 years of age showed that the need for hospitalisations and surgery continued. The burden of disease in early childhood is high for children with rare structural congenital anomalies.


Assuntos
Anormalidades Congênitas , Parto , Gravidez , Feminino , Humanos , Criança , Pré-Escolar , Lactente , Estudos de Coortes , Tempo de Internação , Sistema de Registros , Hospitais , Armazenamento e Recuperação da Informação
5.
Acta Paediatr ; 112(6): 1304-1311, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36823678

RESUMO

AIM: Children with congenital anomalies often require surgery but data on the burden of surgery for these children are limited. METHODS: A population-based record-linkage study in Finland, Wales and regions of Denmark, England, Italy and Spain. A total of 91 504 children with congenital anomalies born in 1995-2014 were followed to their tenth birthday or the end of 2015. Electronic linkage to hospital databases provided data on inpatient surgical procedures and meta-analyses of surgical procedures were performed by age groups. RESULTS: The percentage of children having surgery in the first year was 38% with some differences across regions and 14% also underwent surgery at age 1-4 years. Regional differences in age at the time of their first surgical procedure were observed for children with cleft palate, hydronephrosis, hypospadias, clubfoot and craniosynostosis. The children had a median of 2.0 (95% CI 1.98, 2.02) surgical procedures before age 5 years with children with oesophageal atresia having the highest median number of procedures (4.5; 95% CI 3.3, 5.8). CONCLUSION: A third of children with congenital anomalies required surgery during infancy and often more than one procedure was needed before age 5 years. There was no European consensus on the preferred age for surgery for some anomalies.


Assuntos
Pé Torto Equinovaro , Hipospadia , Gravidez , Masculino , Feminino , Humanos , Criança , Adulto , Lactente , Pré-Escolar , Europa (Continente) , Parto , Itália
6.
Eur J Pediatr Surg ; 33(5): 403-413, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36577437

RESUMO

INTRODUCTION: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.


Assuntos
Hérnias Diafragmáticas Congênitas , Gravidez , Lactente , Feminino , Humanos , Estudos Retrospectivos , Estudos de Coortes , Prevalência , Hérnias Diafragmáticas Congênitas/epidemiologia , Alemanha/epidemiologia
7.
J Eur Acad Dermatol Venereol ; 37(3): 581-589, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36300660

RESUMO

BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies. OBJECTIVES: This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT). METHODS: Twenty-eight EUROCAT population-based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported. RESULTS: Five hundred cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams-Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases. CONCLUSION: To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.


Assuntos
Displasia Ectodérmica , Deformidades Congênitas dos Membros , Dermatoses do Couro Cabeludo , Recém-Nascido , Humanos , Displasia Ectodérmica/epidemiologia , Displasia Ectodérmica/genética , Europa (Continente)/epidemiologia , Pele
8.
BMC Pediatr ; 22(1): 657, 2022 11 12.
Artigo em Inglês | MEDLINE | ID: mdl-36368959

RESUMO

BACKGROUND: Parents of children who have a congenital anomaly can experience significant worry about their child's health. Access to clear, helpful, and trustworthy information can provide a valuable source of support. In this study the aim was to explore the information needs of parents/carers of children with congenital anomalies across Europe. METHOD: A cross-sectional online survey was developed in nine languages to measure parents' information needs, including: (1) the 'helpfulness'/'trustworthiness' of information received from eight relevant sources, and (2) overall satisfaction with information received. Parents/carers of children (0-10 years) with cleft lip, spina bifida, congenital heart defect [CHD] requiring surgery, and/or Down syndrome were recruited online via relevant organisations in 10 European countries from March-July 2021. Quantitative analyses using multivariable logistic regressions were performed. RESULTS: One thousand seventy parents/carers of children with a cleft lip (n = 247), spina bifida (n = 118), CHD (n = 366), Down syndrome (n = 281), and Down syndrome with CHD (n = 58) were recruited in Poland (n = 476), the UK (n = 120), Germany (n = 97), the Netherlands/Belgium (n = 74), Croatia (n = 68), Italy (n = 59), other European countries (n = 92), and not specified/non-European countries (n = 84). Most participants were mothers (92%) and aged 31-40 years (71%). Participants were most likely to rate support groups (63%), patient organisations (60%), specialist doctors/nurses (58%), and social media (57%) as 'very helpful' information sources. 'Very trustworthy' ratings remained high for specialist doctors/nurses (61%), however, they declined for support groups (47%), patient organisations (48%), and social media (35%). Germany had the highest proportion of participants who were 'very satisfied' (44%, 95% CI = 34%-54%) with information, whereas this percentage was lowest in Croatia (11%, 95% CI = 3%-19%) and Poland (15%, 95% CI = 11%-18%). Parents of children with Down syndrome had significantly lower satisfaction ratings than parents of children with CHD; 13% (95% CI = 8%-18%) reported being 'very satisfied' compared to 28% (95% CI = 23%-33%) in the CHD group. CONCLUSIONS: Findings suggest that informal sources of information (e.g. support groups) are of value to parents, however, they are not deemed as trustworthy as specialist medical sources. Satisfaction ratings differed across countries and by anomaly, and were particularly low in Croatia and Poland, as well as for parents of children with Down syndrome, which warrants further investigation.


Assuntos
Fenda Labial , Síndrome de Down , Cardiopatias Congênitas , Disrafismo Espinal , Criança , Humanos , Estudos Transversais , Pais
9.
BMJ Paediatr Open ; 6(1)2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-36053618

RESUMO

OBJECTIVE: To report and compare the proportion of children with and without congenital anomalies undergoing gastrostomy for tube feeding in their first 5 years. METHODS: A European, population-based data-linkage cohort study (EUROlinkCAT). Children up to 5 years of age registered in nine EUROCAT registries (national and regional) in six countries and children without congenital anomalies (reference children) living in the same geographical areas were included. Data on hospitalisation and surgical procedures for all children were obtained by electronic linkage to hospital databases. RESULTS: The study included 91 504 EUROCAT children and 1 960 272 reference children. Overall, 1200 (1.3%, 95% CI 1.2% to 1.6%) EUROCAT children and 374 (0.016%, 95% CI 0.009% to 0.026%) reference children had a surgical code for gastrostomy within the first 5 years of life. There were geographical variations across Europe with higher rates in Northern Europe compared with Southern Europe. Around one in four children with Cornelia de Lange syndrome and Wolf-Hirschhorn syndrome had a gastrostomy. Among children with structural anomalies, those with oesophageal atresia had the highest proportion of gastrostomy (15.9%). CONCLUSIONS: This study including almost 2 million reference children in Europe found that only 0.016% of these children had a surgery code for gastrostomy before age 5 years. The children with congenital anomalies were on average 80 times more likely to need a gastrostomy before age 5 years than children without congenital anomalies. More than two-thirds of gastrostomy procedures performed within the first 5 years of life were in children with congenital anomalies.


Assuntos
Atresia Esofágica , Gastrostomia , Estudos de Coortes , Bases de Dados Factuais , Humanos , Sistema de Registros
10.
Neuroepidemiology ; 53(3-4): 169-179, 2019.
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.


Assuntos
Síndrome de Dandy-Walker/epidemiologia , Adulto , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Gravidez , Complicações na Gravidez/epidemiologia , Resultado da Gravidez , Diagnóstico Pré-Natal , Sistema de Registros
11.
Am J Med Genet A ; 179(9): 1791-1798, 2019 09.
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.


Assuntos
Acondroplasia/genética , Diagnóstico Pré-Natal , Doenças Raras/epidemiologia , Acondroplasia/diagnóstico , Acondroplasia/epidemiologia , Acondroplasia/patologia , Adulto , Europa (Continente)/epidemiologia , Feminino , Morte Fetal , Humanos , Recém-Nascido , Masculino , Idade Materna , População/genética , Gravidez , Resultado da Gravidez , Doenças Raras/genética , Doenças Raras/patologia
12.
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.


Assuntos
Displasia Septo-Óptica/epidemiologia , Adolescente , Adulto , Europa (Continente) , Feminino , Humanos , Recém-Nascido , Idade Materna
13.
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
14.
Int J Pediatr Otorhinolaryngol ; 107: 110-120, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29501290

RESUMO

OBJECTIVES: Early diagnosis of congenital hearing loss is fundamental to minimize the negative consequences on the speech development. To lower the age at diagnosis and at intervention in hearing impaired children, not only universal newborn hearing screening (NHS) but also tracking is considered essential. The aim of the study was to evaluate the first six years after implementation of the population based newborn hearing screening program in Saxony-Anhalt, one German Federal State. METHODS: The cross-sectional cohort study consisted of three cohort samples. Overall 102,301 infants born between January 2010 and December 2015 were included. NHS protocol was developed as dual target group protocol with two sub-protocols. The screening technique included Transient Evoked Otoacoustic Emissions (TEOAE) and Automated Auditory Brainstem Response (AABR) test. Newborns were assigned to the sub-protocols according to their audiological risk factors. Additionally, to evaluate the quality of NHS and tracking (false-negative screening) we were analysing data from a cohort of hearing impaired children diagnosed up to the age of three years. We calculated quality indicators and compared them with international guidelines. RESULTS: 101,102 (98.8%) infants were screened. The prevalence of bilateral neonatal hearing loss was 2.32 per 1000 newborns. The median age was two days at first screening, three month at diagnostic testing, and four month at intervention onset. 2.6% infants were lost to follow-up. 56.3% had a final diagnosis of bilateral sensorineural hearing loss. The sensitivity of 0.85 (KI 95%: 0.76­0.91) and a specificity of 0.84 (KI 95%: 0.84­0.85) was calculated for the NHS program. CONCLUSIONS: The analysis of benchmarks and outcomes of NHS demonstrated that the program reaches its main goal to identify the hearing impaired newborns in a timely manner.


Assuntos
Perda Auditiva/epidemiologia , Testes Auditivos/métodos , Triagem Neonatal/métodos , Estudos de Coortes , Estudos Transversais , Feminino , Alemanha , Humanos , Recém-Nascido , Masculino , Avaliação de Programas e Projetos de Saúde , Sensibilidade e Especificidade
15.
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
16.
Eur J Pediatr Surg ; 28(3): 268-272, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28505692

RESUMO

INTRODUCTION: The Hypospadias Objective Penile Evaluation Score (HOPE-Score) is a concise and reproducible way to describe hypospadias severity. We classified boys undergoing primary hypospadias repair to determine the correlation between the HOPE-Score and the severity of hypospadias first and the outcome after surgery second. MATERIALS AND METHODS: Patients who underwent primary hypospadias repair from 2005 to 2014 were identified. An independent physician assessed retrospectively the HOPE-Score, using photographies of the patients before, after primary surgery, and after all necessary surgeries. The correlation between the HOPE-Score and the severity of hypospadias, on the one hand, and the outcome after surgery, on the other hand, were analyzed. RESULTS: The HOPE-Score was assessed preoperatively for 79 boys, postoperatively for 66, and after all necessary surgeries for 21 patients. Mean HOPE-Score reached 30.2 ± 5.9 before surgery, 42.2 ± 6.1 after primary surgery, and 43.7 ± 3.4 after all necessary surgeries. A significant correlation between the HOPE-Score and the severity of hypospadias before surgery was observed. The boys with glanular hypospadias scored significantly higher (36.3 ± 5.4) than those with distal (29.6 ± 4.4) and proximal hypospadias (21.1 ± 3.5). Furthermore, a significant correlation between the HOPE-Score and the outcome after hypospadias repair was observed. Patients who needed no reintervention after primary hypospadias repair scored significantly higher postoperatively (45.1 ± 5.4) than those who needed a second (40.8 ± 4.2) or more than two surgeries (36.9 ± 7.4). CONCLUSION: The HOPE-Score is a good system to assess the severity of hypospadias and the cosmetic outcome after hypospadias repair.


Assuntos
Hipospadia/cirurgia , Índice de Gravidade de Doença , Procedimentos Cirúrgicos Urológicos Masculinos , Criança , Pré-Escolar , Seguimentos , Humanos , Hipospadia/diagnóstico , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do Tratamento
17.
Nuklearmedizin ; 56(1): 39-46, 2017 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-27683747

RESUMO

AIM: After detection of obstructive uropathy (OU), the indication for or against surgery is primarily based on the differential renal function (DRF). This is to compare functional magnetic resonance urography (fMRU) with dynamic renal scintigraphy (DRS) to assess OU and DRF in infants and children. PATIENTS, METHODS: Retrospective analysis in 30 patients (female: 16; male: 14; median age: 5.5 years [0.2-16.5]), divided into subgroup A (age: 0-2 years; n = 16) and B (> 2-17 years; n = 14). fMRU was assessed by measuring renal transit time (RTT) and volumetric DRF with CHOP fMRU tool (CT) and ImageJ MRU plug-in (IJ). OU detection by fMRU was compared with DRS (standard of reference) using areas under the curves (AUC) in ROC analyses. Concordant DRF was assumed if absolute deviation between fMRU and DRS was ≤ 5 %. RESULTS: DRS confirmed fixed OU in 4/31 kidneys (12.9 %) in subgroup A. AUC of CT was 0.94 compared with 0.93 by IJ. Subgroup B showed fixed OU in 1/21 kidneys (4.8 %) with AUCs of 0.98 each. RTT measured neither by CT nor by IJ in confirmed fixed OU was < 1200 s - resulting in negative predictive values of 1.0 each. In subgroup A, DRF was concordant in 81.3 % of the kidneys for CT and DRS compared with 75.0 % for IJ and DRS. In subgroup B, CT and DRS were concordant in 91.7 %, and IJ and DRS in 45.8 % of the kidneys. CONCLUSION: fMRU accurately excluded fixed OU in infants and children, independent from the software used for quantification. However, assessment of DRF with fMRU deviated from DRS especially in infants who may profit most from early intervention. Thus, fMRU cannot fully replace DRS as primary functional examination. If, for clinical reasons, fMRU is performed in first place and it cannot exclude fixed OU, it should be followed by DRS for validation and DRF quantification.


Assuntos
Testes de Função Renal/métodos , Imageamento por Ressonância Magnética/métodos , Renografia por Radioisótopo/métodos , Cintilografia/métodos , Software , Obstrução Uretral/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Diuréticos , Feminino , Humanos , Interpretação de Imagem Assistida por Computador/métodos , Lactente , Recém-Nascido , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Urografia/métodos
18.
Birth Defects Res A Clin Mol Teratol ; 106(2): 133-41, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26690556

RESUMO

BACKGROUND: Adequate evidence on environmental risk factors for anorectal malformations (ARMs) is very limited. We assessed maternal body weight and several prenatal exposures of the parents to tobacco, pregestational diabetes, chronic cardiovascular and respiratory diseases, periconceptional folic acid and multivitamin intake. METHODS: Data from the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared with data from the Malformation Monitoring Centre Saxony-Anhalt of the Otto-von-Guericke University in Magdeburg, Germany. Controls were matched to cases by gender and birth year of the child. Crude and adjusted odds ratios (95% confidence intervals) were calculated for potential risk factors using multivariable logistic regression. RESULTS: In total, 158 ARM patients and 474 healthy infants born between 1993 and 2008 in Germany were included. Maternal age at birth of ARM cases and birth plurality were significantly higher and gestational age and weight significantly lower compared with controls (p < 0.0001). We observed significantly increased risks for ARMs associated with maternal smoking before conception and the first trimester of pregnancy (odds ratio = 2.23, 95% confidence interval 1.04-4.79, p = 0.039) and maternal chronic respiratory diseases (odds ratio = 29.25, 95% confidence interval 8.22-104.14, p < 0.0001). No statistically significant increased risk or protective effect was found for the other investigated factors. CONCLUSION: This study suggests an association between the occurrence of ARMs in the offspring and periconceptional maternal smoking as well as maternal chronic respiratory diseases. In addition, there might be a sign of an association for maternal diabetes, although not statistically significant. It can be assumed that the power is far too low to provide reliable estimates.


Assuntos
Canal Anal/anormalidades , Anus Imperfurado/epidemiologia , Exposição Materna/efeitos adversos , Exposição Paterna/efeitos adversos , Reto/anormalidades , Fumar/efeitos adversos , Malformações Anorretais , Estudos de Casos e Controles , Feminino , Alemanha/epidemiologia , Idade Gestacional , Humanos , Masculino , Gravidez , Fatores de Risco
19.
J Perinat Med ; 44(3): 261-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25825915

RESUMO

Each year approximately 2400 pregnancies develop folic acid-preventable spina bifida and anencephaly in Europe. Currently, 70% of all affected pregnancies are terminated after prenatal diagnosis. The prevalence of neural tube defects (NTDs) has been significantly lowered in more than 70 countries worldwide by applying fortification with folic acid. Periconceptional supplementation of folic acid also reduces the risk of congenital heart diseases, preterm birth, low birth weight, and health problems associated with child mortality and morbidity. All European governments failed to issue folic acid fortification of centrally processed and widely eaten foods in order to prevent NTDs and other unwanted birth outcomes. The estimated average dietary intake of folate in Germany is 200 µg dietary folate equivalents (DFE)/day. More than half of German women of reproductive age do not consume sufficient dietary folate to achieve optimal serum or red blood cell folate concentrations (>18 or 1000 nmol/L, respectively) necessary to prevent spina bifida and anencephaly. To date, targeted supplementation is recommended in Europe, but this approach failed to reduce the rate of NTDs during the last 10 years. Public health centers for prenatal care and fortification with folic acid in Europe are urgently needed. Only such an action will sufficiently improve folate status, prevent at least 50% of the NTD cases, reduce child mortality and morbidity, and alleviate other health problems associated with low folate such as anemia.


Assuntos
Ácido Fólico/sangue , Suplementos Nutricionais , Feminino , Ácido Fólico/administração & dosagem , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/tratamento farmacológico , Alimentos Fortificados , Humanos , Recém-Nascido , Defeitos do Tubo Neural/prevenção & controle , Necessidades Nutricionais , Cuidado Pré-Concepcional , Gravidez , Complicações na Gravidez/tratamento farmacológico , Resultado da Gravidez
20.
BMJ ; 351: h5949, 2015 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-26601850

RESUMO

STUDY QUESTION: What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? METHODS: This was a population based, observational study using data on 11,353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends. SUMMARY ANSWER AND LIMITATIONS: Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10,000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend, with the final estimate of the pooled total prevalence of NTD in 2011 similar to that in 1991. Estimates from Poisson models that took registry heterogeneities into account showed an annual increase of 4% (prevalence ratio 1.04, 95% confidence interval 1.01 to 1.07) in 1995-99 and a decrease of 3% per year in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data artefacts cannot be excluded as a partial explanation of the observed trends (or lack thereof) in the prevalence of NTD. WHAT THIS STUDY ADDS: In the absence of mandatory fortification, the prevalence of NTD has not decreased in Europe despite longstanding recommendations aimed at promoting peri-conceptional folic acid supplementation and existence of voluntary folic acid fortification. FUNDING, COMPETING INTERESTS, DATA SHARING: The study was funded by the European Public Health Commission, EUROCAT Joint Action 2011-2013. HD and ML received support from the European Commission DG Sanco during the conduct of this study. No additional data available.


Assuntos
Suplementos Nutricionais/estatística & dados numéricos , Ácido Fólico/uso terapêutico , Defeitos do Tubo Neural , Complicações na Gravidez , Aborto Eugênico/estatística & dados numéricos , Europa (Continente)/epidemiologia , Feminino , Morte Fetal , Assistência Alimentar , Humanos , Nascido Vivo/epidemiologia , Avaliação das Necessidades , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/prevenção & controle , Formulação de Políticas , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/etiologia , Complicações na Gravidez/prevenção & controle , Resultado da Gravidez/epidemiologia , Prevalência , Complexo Vitamínico B/uso terapêutico
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