[Show abstract][Hide abstract] ABSTRACT: Hypospadias is a common congenital malformation. The prevalence of hypospadias has a large geographical variation, and recent studies have reported both increasing and decreasing temporal trends. It is unclear whether hypospadias prevalence is associated with maternal age.
To analyze the prevalence and trends of total hypospadias, isolated hypospadias, hypospadias with multiple congenital anomalies, hypospadias with a known cause, and hypospadias severity subtypes in Europe over a 10-year period and to investigate whether maternal age is associated with hypospadias.
We included all children with hypospadias born from 2001 to 2010 who were registered in 23 EUROCAT registries. Information on the total number of births and maternal age distribution for the registry population was also provided. We analyzed the total prevalence of hypospadias and relative risks by maternal age.
From 2001 to 2010, 10,929 hypospadias cases were registered in 5,871,855 births, yielding a total prevalence of 18.61 per 10,000 births. Prevalence varied considerably between different registries, probably due to differences in ascertainment of hypospadias cases. No significant temporal trends were observed with the exceptions of an increasing trend for anterior and posterior hypospadias and a decreasing trend for unspecified hypospadias. After adjusting for registry effects, maternal age was not significantly associated with hypospadias.
Total hypospadias prevalence was stable in 23 EUROCAT registries from 2001 to 2010 and was not significantly influenced by maternal age.
World Journal of Urology 02/2015; · 3.42 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT).
Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept.
There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence was 2.3 (95% CI 2.2 to 2.4) per 10 000 births and 1.6 (95% CI 1.6 to 1.7) for isolated CDH cases. There was a small but significant increase (relative risk (per year)=1.01, 95% credible interval 1.00-1.01; p=0.030) in the prevalence of total CDH over time but there was no significant increase for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases.
This large population-based study found an increase in total CDH prevalence over time. CDH prevalence also varied significantly according to geographical location. No significant association was found with maternal age.
Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Archives of Disease in Childhood - Fetal and Neonatal Edition 11/2014; · 3.86 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Background
Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries.Methods
The study was based on data collected during 1990¿2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS.ResultsA total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births.ConclusionsHOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.
[Show abstract][Hide abstract] ABSTRACT: Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.European Journal of Human Genetics advance online publication, 3 September 2014; doi:10.1038/ejhg.2014.174.
European journal of human genetics: EJHG 09/2014; · 3.56 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Bearing in mind the impending evaluation of newborn hearing screening in Germany, this study investigated whether multicenter analysis of the screening results from four German states is possible and to what extent the results meet national quality and outcome criteria.
The screening data from 170 hospitals and a total of 533,150 newborns (21 % of all German newborns) from 2009 to 2012 were evaluated according to definite rules and analyzed in terms of averages, as well as over time.
During the investigated period and averaged over the hospitals, the quality criteria "percentage of screened newborns" (91.4 %) and "percentage requiring further follow-up" (5.0 %), the "day of screening" (day 4), as well as the target parameter "age at diagnosis" (4.8 months) were not met. Steady improvements were observed over time: in the last year of the evaluation, 95.3 % of children were examined; only 4.8 % required follow-up and the age at diagnosis decreased to 4.2 months. On average, 83 % of the babies were screened before day 4. The steady reduction in variance of most of the variables from the participating hospitals indicates continual improvement.
A multicenter analysis of screening data is possible and valid in the case of good quality data.
[Show abstract][Hide abstract] ABSTRACT: Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.European Journal of Human Genetics advance online publication, 8 January 2014; doi:10.1038/ejhg.2013.287.
European journal of human genetics: EJHG 01/2014; · 3.56 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: A combination of ethinylestradiol and 10mg norethisterone under the brand names of Duogynon (Germany) or Primodos (UK) was used as a pregnancy test until the 1970s. Until very recently there was continuing public concern about the safety of these drugs and legal proceedings were instituted against the medicinal authorization holder. Given the lack of epidemiological studies focusing on Duogynon/Primodos, the present study evaluates 296 consumer reports of the German Duogynon database and compares the reported birth defects with data from a population based birth registry. The most striking result is an increase of bladder exstrophy (OR=37.27; 95%-CI 14.56-95.28). Neural tube defects (OR=2.99; 95%-CI 1.85-4.84) and renal agenesis (OR=2.53; 95%-CI 1.17-5.45) were also significantly increased. Bladder exstrophy may be a yet undetected teratogenic effect of Duogynon, but may also represent a reporting bias. The present study highlights the difficulties of evaluating consumer reports which may be influenced by public media.
[Show abstract][Hide abstract] ABSTRACT: Das Seromukotympanon (SMT) als häufigste Ursache einer Schwerhörigkeit im Kindesalter spielt eine wichtige Rolle im Follow-up nach kontrollbedürftigem Neugeborenenhörscreening (NGHS). Durch die Einführung des NGHS können kindliche Hörstörungen bereits in den ersten Lebensmonaten diagnostiziert und therapiert werden.Bei 715 Kindern, die in den Jahren 2006 bis 2010 am Arbeitsbereich für Phoniatrie und Pädaudiologie der Hals-Nasen-Ohren-Universitätsklinik Magdeburg untersucht wurden, konnte der Anteil von Kindern mit SMT und der Therapieverlauf im Rahmen des Follow-ups bestimmt werden.Bei 16 % der Kinder ergab sich im Follow-up die Arbeitsdiagnose eines SMT. Bei 37 % von ihnen kam es zu einer Rückbildung des SMT unter konservativer Therapie. Chirurgisch therapiert wurden 46 % der Kinder. Ein deutlich erhöhtes Risiko für ein persistierendes SMT besteht bei Kindern mit kraniofazialen Dysmorphien oder Spaltbildungen des Gaumens.Durch Einführung des NGHS gelingt die frühzeitige Diagnose und Therapie des SMT. Potentielle Störungen der sprachlichen, sozialen und intellektuellen Entwicklung der Kinder können dadurch verhindert werden.
[Show abstract][Hide abstract] ABSTRACT: The transparency of implementation of the newborn hearing screening system in Germany is analysed. For this purpose it has been tested whether the current state can be retained and evaluated by using public accessible information channels.A selective document analysis with subsequent assessment of the federal states was performed. In the form of a scoring system an assessment approach has been developed based on defined comparison criteria. The selective document analysis was characterised by including only documents which were detected through the internet and medical databases by using defined search terms.A complete survey of the current state of guideline implementation is not available by using public accessible information. The assessment of the federal states reveals an extremely heterogeneous situation with regard to the transparency of the implementation process in Germany. Bavaria has the highest score with 37 points, while Bremen has the lowest score with 3 points. Overall, the supply of information to experts is better constituted compared to that to the population, and respectively, the newborn's parents.A meaningful evaluation of the implementation processes in the federal states up to now is urgently required. This is necessary both to optimise the process and to achieve the highest possible quality among patient-centred care structures nationwide.
Das Gesundheitswesen 09/2013; · 0.62 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: BACKGROUND: Otitis media with effusion (OME) as the most common cause of hearing loss in childhood plays an important role in the follow-up after failed newborn hearing screening (NHS). The introduction of the NHS allows OME to be diagnosed and treated in the first months of life. MATERIAL AND METHODS: In 715 children referred to the Department of Phoniatrics and Pedaudiology of the Ear, Nose, Throat University Hospital of Magdeburg during the period 2006-2010, the prevalence and therapy process of OME during follow-up could be determined. RESULTS: OME was diagnosed in 16 % of the patients. Spontaneous resolution was observed in 37 % of the cases, while 46 % of the children were treated surgically. A substantially increased risk for persistent OME was observed in children with craniofacial dysmorphia or cleft palate. CONCLUSION: Using NHS, OME can be diagnosed and treated early, thus, preventing potential problems in the linguistic, social and intellectual development of children.
[Show abstract][Hide abstract] ABSTRACT: OBJECTIVE: To assess the public health consequences of the rise in multiple births with respect to congenital anomalies. DESIGN: Descriptive epidemiological analysis of data from population-based congenital anomaly registries. SETTING: Fourteen European countries. POPULATION: A total of 5.4 million births 1984-2007, of which 3% were multiple births. METHODS: Cases of congenital anomaly included live births, fetal deaths from 20 weeks of gestation and terminations of pregnancy for fetal anomaly. MAIN OUTCOME MEASURES: Prevalence rates per 10 000 births and relative risk of congenital anomaly in multiple versus singleton births (1984-2007); proportion prenatally diagnosed, proportion by pregnancy outcome (2000-07). Proportion of pairs where both co-twins were cases. RESULTS: Prevalence of congenital anomalies from multiple births increased from 5.9 (1984-87) to 10.7 per 10 000 births (2004-07). Relative risk of nonchromosomal anomaly in multiple births was 1.35 (95% CI 1.31-1.39), increasing over time, and of chromosomal anomalies was 0.72 (95% CI 0.65-0.80), decreasing over time. In 11.4% of affected twin pairs both babies had congenital anomalies (2000-07). The prenatal diagnosis rate was similar for multiple and singleton pregnancies. Cases from multiple pregnancies were less likely to be terminations of pregnancy for fetal anomaly, odds ratio 0.41 (95% CI 0.35-0.48) and more likely to be stillbirths and neonatal deaths. CONCLUSIONS: The increase in babies who are both from a multiple pregnancy and affected by a congenital anomaly has implications for prenatal and postnatal service provision. The contribution of assisted reproductive technologies to the increase in risk needs further research. The deficit of chromosomal anomalies among multiple births has relevance for prenatal risk counselling.
BJOG An International Journal of Obstetrics & Gynaecology 02/2013; · 3.76 Impact Factor