Linking a European cohort of children born with congenital anomalies to vital statistics and mortality records: A EUROlinkCAT study.

EUROCAT is a European network of population-based congenital anomaly (CA) registries. Twenty-one registries agreed to participate in the EUROlinkCAT study to determine if reliable information on the survival of children born with a major CA between 1995 and 2014 can be obtained through linkage to national vital statistics or mortality records. Live birth children with a CA could be linked using personal identifiers to either their national vital statistics (including birth records, death records, hospital records) or to mortality records only, depending on the data available within each region. In total, 18 of 21 registries with data on 192,862 children born with congenital anomalies participated in the study. One registry was unable to get ethical approval to participate and linkage was not possible for two registries due to local reasons. Eleven registries linked to vital statistics and seven registries linked to mortality records only; one of the latter only had identification numbers for 78% of cases, hence it was excluded from further analysis. For registries linking to vital statistics: six linked over 95% of their cases for all years and five were unable to link at least 85% of all live born CA children in the earlier years of the study. No estimate of linkage success could be calculated for registries linking to mortality records. Irrespective of linkage method, deaths that occurred during the first week of life were over three times less likely to be linked compared to deaths occurring after the first week of life. Linkage to vital statistics can provide accurate estimates of survival of children with CAs in some European countries. Bias arises when linkage is not successful, as early neonatal deaths were less likely to be linked. Linkage to mortality records only cannot be recommended, as linkage quality, and hence bias, cannot be assessed.

Correction to: EUROCAT: an update on its functions and activities.

The published online version contains the following errors: On the cover page "JRC Management Committee" - should be corrected to JRC-EUROCAT Management Committee. In the authors list under the title, same as above, "JRC Management Committee" should be corrected to JRC-EUROCAT Management Committee.

Multicentre approach to epidemiological aspects of craniosynostosis in Germany.

We know of no current published data on the prevalence of craniosynostosis in Germany, so our objective in this study was to contribute to the limited knowledge of its epidemiology by assessing time trends, the frequency of prenatal diagnosis, and the timing of diagnosis and treatment. Data were collected in Saxony-Anhalt during the period 2000-17, and we designed a retrospective multicentre cohort study. The prevalence was 4.8 cases of craniosynostosis/10 000 births, and did not increase during that time. We compared the data of 91 patients with those of 273 controls. There were 75 boys and 16 girls (ratio 4.7:1). Fifty-one children had isolated craniosynostosis, consisting of 46 with a single-suture, and five with a multisuture, synostosis. Twenty-nine were associated with other congenital malformations, and 11 were syndromic. Three cases had been diagnosed prenatally, and 34 had skull deformities diagnosed immediately after birth at a mean (SD) age of 3.4 (4.7) months. The mean (SD) age at the time of first admission to hospital in one of the three surgical centres of Saxony-Anhalt was 5.9 (5.5) months, and 65 patients were operated on at a mean age of 9.1 (6.3) months. In contrast to published reports we found a prevalence of 4.8 cases of craniosynostosis/10 000 births that did not increase during the period 2000-16. Although we found a low prenatal detection rate, the diagnosis and treatment in this cohort study seemed timely.

EUROCAT: an update on its functions and activities.

This paper provides an outline of the development and growth of EUROCAT, the European network of congenital anomaly registers. In recent years the network has been through a period of transition and change. The Central Register of data has transferred from the Ulster University to the EU Joint-Research-Centre, Ispra, Italy.The benefits of combining data from across Europe, from different populations and countries are described by the uses to which these data can be put. These uses include:. surveillance of anomalies at a local, regional or pan-European level. pharmacovigilance. registration of rare diseasesNew studies and projects are underway, including EUROlinkCAT (a Horizon 2020 funded data-linkage project), promising a fruitful future in further research of congenital anomalies.

[Prevalence of Gastroschisis, Omphalocele, Spina Bifida and Orofacial Clefts of Neonates from January 2000 to December 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany]. / Prävalenz von Gastroschisis, Omphalozele, Spina bifida und orofazialen Spaltbildungen bei Neugeborenen im Zeitraum Januar 2000­Dezember 2010 in Leipzig, Sachsen, Sachsen-Anhalt und Deutschland.

BACKGROUND: Malformations are the most common cause of death in infancy. Numerous studies indicate an increased prevalence of malformations in neonates in recent years in some countries around the world. This study analyzed local and national trends of the prevalences of gastroschisis, omphalocele, spina bifida and orofacial clefts during 2000 till 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany. METHODS: The prevalence of neonatal malformations was studied retrospectively from January 2000 till December 2010 using 4 sources from Leipzig, Saxony, Saxony-Anhalt and Germany. RESULTS: Between 2000 and 2010, the prevalence in Germany and in Saxony, respectively was 1.97/2.12 (gastroschisis), 1.63/1.48 (omphalocele), 5.80/8.11 (orofacial clefts) and 2.92/2.50 (spina bifida) of 10 000 live births. In Saxony, a small increase in prevalence was detected (OR/year: 1.01-1.09). In Germany, the prevalence of malformations also increased significantly (OR/year: 1.01-1.04) with the exception of the prevalence of spina bifida which seemed to decline (OR/year 0.986 (0.97-1.0), p-adjust=0.04). CONCLUSION: Whether or not there has been an actual increase in the prevalence of neonatal malformations in Germany over the years or the apparent increase is just due to bias, coding errors, multiple reporting and/or false registration and codification remains unclear. Importantly, in Germany, since prevalence of malformations is monitored prospectively only in Saxony-Anhalt and Rhineland-Palatinate, only in these states is it possible to recognize recent changes. For early identification of changes in prevalence and timely implementation of preventive measures, a nationwide register or additional regional registers are deemed necessary.

[Prevalence, Risk Factors and Diagnostics of Hearing Impairment in Preterm Infants]. / Prävalenz, Risikofaktoren und Diagnostik von Hörstörungen bei Frühgeborenen.

Introduction: The preterm birth is clearly associated with increased risk of developing congenital hearing impairment. Therefore, special attention must be paid to the postnatal control of auditory function in all preterm infants. The present work investigates if the latest scientific findings regarding prevalence, clinical diagnostics, therapy and risk factors of hearing impairment in premature infants are regularly implemented in daily practice. Methods: At the department of phoniatrics and pediatric audiology of the University Hospital of Magdeburg, the treatment data of 126 preterm children born between 2006 and 2011 were evaluated retrospectively. The additional analysis of all records available at the screening center (n=67 640) covering this period enables drawing conclusions on the total number and prevalence of hearing impairment in preterm infants in Saxony-Anhalt. Results: Almost all premature babies, like mature newborns, underwent postnatal hearing screening of both ears. The data analysis shows that the practical implementation often does not comply with the guideline of the G-BA (Gemeinsamer Bundesausschuss) in all details. For example, the recommended screening method for preterm infants (AABR) or the screening and treatment timing are not always applied in accordance with the guidelines of the G-BA. Discussion: Assessment of the practical implementation of universal newborn hearing screening was planned at the time of the introduction of the hearing screening program by the G-BA. As a part of this investigation, the practical care of vulnerable groups such as preterm infants must be given special attention. Based on the collected data, the diagnostics and therapy should be unified. Regardless of the maternity clinic where the infants were born, there should be the same opportunity for early diagnosis and thus for prognostically better treatment of congenital hearing impairment. Rapid postnatal fitting with hearing aid can stimulate the maturation of the central auditory system and potentially help to avoid problems of hearing and speech development.

[Newborn Hearing Screening - Results of a Parental Survey in Saxony-Anhalt]. / Neugeborenen-Hörscreening ­ Ergebnisse einer Elternbefragung in Sachsen-Anhalt.

Background: In recent years quality assurance has become an essential part of today's health-care system in the wake of the modern patient-oriented quality management. With the statutory introduction of newborn hearing screening (NHS) in 2009, a quality assurance of these early detection methods has become necessary. The aim of the study was to determine patient satisfaction in relation to the NHS in Saxony-Anhalt. Patients/Methods: During the period from November 2013 to April 2014, 394 parents were retrospectively interviewed about their experiences and expectations in relation to the NHS, using a standardised questionnaire. In total, 21 child care centres and 6 paediatric primary care centres from all over Saxony-Anhalt were involved. Results: It turns out that the majority of parents are satisfied with the NHS and 97.7% are in favour of the offer of an NHS. Of the surveyed parents, 69.3% felt the information as sufficient. However, only 66.2% of parents took a closer look at the leaflet issued by the G-BA. In addition, 17.7% of respondents are dissatisfied with the professional competence of the examining staff. Conclusion: The study shows that the general attitude among parents towards newborn hearing screening was very positive. They felt reassured by it although there are some aspects still open to criticism.

[The Meaning of Neurological and Psychiatric Disease and Addiction for Pregnancy Outcome: A Case-control Study of the Birth Cohort 2010-2012]. / Die Bedeutung neurologischer, psychiatrischer und Suchterkrankungen für den Schwangerschaftsausgang: Fall-Kontroll-Studie der Geburtsjahrgänge 2010-2012.

BACKGROUND AND AIMS: The worldwide prevalence of neurological and psychiatric illnesses is steadily increasing. Consequently women of childbearing age are concerned as well. This survey examines the question of what kind of effects these illnesses have prenatally on mother and child. METHODS: In a case-control study, differences in pregnancy, birth process, and birth outcome were associated with a neurological or psychiatric illness of the expectant mother. 325 pregnant women with 331 born children were identified as cases, which were compared to 5 103 non diseased pregnant women with 5 195 born children. RESULTS: The age of the mother for admission was significantly lower in the case group than in the control group. The number of previous gestations and the number of previous induced abortion were significantly higher in the case group. Also the BMI before pregnancy and the length of stationary stay showed significantly higher values in the case group. Children belonging to the case group were born significantly earlier, had a lower birth weight, height, and head circumference. Furthermore Apgar scores were significantly lower in the case group. The frequency of postpartum stationary stay in a children's clinic as well as the length of stationary stay were also significantly higher when the mother suffered from a neurological or a psychiatric illness. CONCLUSION: The present results point out the correlation between most of the tested parameters and a neuropsychiatric illness of the newborn's mother. The interdisciplinary collaboration between gynecologists and pediatricians, as well as neurologists and psychiatrists should be strengthened to guarantee the best possible medical care.

[Universal newborn hearing screening : Definition of uniform parameters by the Association of German Hearing Screening Centers as a requirement for nationwide evaluation with valid results]. / Universelles Neugeborenen-Hörscreening : Definition einheitlicher Parameter durch den Verband Deutscher Hörscreening-Zentralen (VDHZ) als Voraussetzung für eine flächendeckende Evaluation mit validen Ergebnissen.

BACKGROUND: Since 2009, all newborns in Germany have been entitled to universal neonatal hearing screening (UNHS). UNHS with tracking of test results leads to earlier detection of hearing disorders. The Association of German Hearing Screening Centers (Verband Deutscher Hörscreening-Zentralen, VDHZ) was founded to promote nationwide tracking, validity and quality control of UNHS results. OBJECTIVES: A comparable data structure in the different screening centers, with uniform definitions of primary parameters is essential for the nationwide evaluation of UNHS results. To address the question of whether a data structure with comparable definitions already exists or still has to be created, the existing structures and primary parameter definitions in the hearing screening centers should be investigated and compared. METHODS: A survey was conducted in all hearing screening centers to assess how data on the primary UNHS parameters defined in pediatric guidelines was gathered. In the case of discrepancies, uniform definitions were created. Finally, the practicability of these definitions was evaluated. RESULTS: Due to differing definitions of primary parameters, some of the data were not comparable between the individual centers. Therefore, uniform definitions were created in a consensus process. In the centers, the screening method, the two-step first screening and the result of the first screening now correspond to these uniform definitions. Other parameters, e.g. the total number of newborns, still vary widely, rendering the comparison of screening rates almost impossible. CONCLUSION: Valid evaluation of UNHS not only requires nationwide establishment of hearing screening centers, but also unified data structures and parameter definitions.

[Quality of universal newborn hearing screening results : Multicenter analysis of data recorded between 2009 and 2012 in four German states]. / Ergebnisqualität im universellen Neugeborenen-Hörscreening : Multizentrische Analyse von Daten der Jahre 2009 bis 2012 aus 4 Bundesländern.

BACKGROUND: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: A multicenter analysis of screening data is possible and valid in the case of good quality data.

[Transparency of the newborn hearing screening system in Germany]. / Transparenz der Umsetzung des Universellen Neugeborenen-Hörscreenings in Deutschland.

AIM: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

[Otitis media with effusion : frequency, diagnosis, and therapy in early childhood]. / Seromukotympanon : Häufigkeit, Diagnose und Therapie im frühen Kindesalter.

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.

Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007.

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.

Practice of dilatation after surgical correction in anorectal malformations.

BACKGROUND: In order to prevent stricture of the neoanus after surgical correction, regular dilatation is recommended. There is a lack of knowledge about the performance of anal dilatation and the occurrence of pain. The aim of our investigation was to describe the practice of dilatation and to identify possible risk factors for painful procedures. METHODS: Congenital Uro-Rectal Malformations Network is a German interdisciplinary multicenter research network. With standard questionnaires, physicians interviewed 243 patients and/or their parents at home, additional 103 patients born since 2009 were assessed through their treating physicians. RESULTS: In total, 88 % of the patients received dilatations. Treatment lasted for 7 months in median (range 1-156 months), until the age of 13 months (range 1-171 months). In 69 % painful dilatation was reported; without a significant differences in age or gender. In 32 % bleeding was reported. In 30 % at least one dilatation was performed under general anesthesia. In 11 % some kind of analgesia was used. Type of fistula, dilatations lasting longer than 10 months and Hegar size above 15 were relevant factors for experience of pain. There were about 16 % postoperative strictures of the neoanus, without reported differences in dilatation procedures; but there was a relation to type of malformation. CONCLUSION: Considering the high number of painful treatments, predictors for painful dilatations should be further clarified through standardized documentation and prospective evaluation in order to improve follow-up.

Evaluation of functional MR-urography in complex obstructive uropathy of infants: comparison to the conventional diagnostic algorithm--a pilot study.

OBJECTIVES: To analyze the impact of functional magnetic resonance urography (fMRU) on the therapeutic management in infants with complex obstructive uropathy (OU) compared to the conventional diagnostic algorithm [CDA, ultrasound, radioisotope nephrography (RN)]. METHODS: Retrospective analysis on 10 consecutive infants [female, n=3; male, n=7; age, 10.7 (2-17) months] with OU. Patients were examined according to CDA. If CDA revealed inconclusive results, fMRU was performed additionally. Split kidney function was assessed by RN [single kidney function (SKF)] and fMRU [volumetric differential renal function (vDRF)]. Findings were presented to an interdisciplinary truth-panel in a 2-step decision process (with and without fMRU). Clinical decision was determined. RESULTS: CDA indicated surgical intervention in 8 patients and conservative treatment in 2. Information by fMRU changed treatment strategy in 3 patients and led to the modification of the initially chosen surgical approach in 8 cases. The comparison of SKF and vDRF was not possible in 1 patient, whereas concordance was observed in 7 patients. SKF and vDRF differed >5% in 2 patients. CONCLUSIONS: fMRU has potential to improve therapeutic management of OU in infants. If surgical treatment is advised, the morphological information by fMRU has to be emphasized. Regarding kidney function estimation preliminary results are encouraging.

[What must the (abdominal) surgeon know about paediatric surgery - paediatric surgical aspects in general (abdominal) surgery]. / Was muss der (Viszeral-)Chirurg von der Kinderchirurgie wissen - kinderchirurgische Aspekte in der (Viszeral-)Chirurgie.

Due to the advances in neonatal intensive care medicine, prenatal ultrasound-guided diagnostic measures and paediatric surgical options, conditions have been established to achieve long-term survival in newborns with severe diseases. In addition, this means that the "non-paediatric" physician can be increasingly confronted with patients who would not have survived childhood some decades ago. Therefore, the article summarises concisely selected diseases of premature infants and newborns, e. g., congenital abdominal wall defects, and outlines possible long-term consequences based on the surgical interventions and their basic diseases, respectively, which need to be adequately cared for in the case of a surgical disease of the former patient of paediatric surgery. The overview cannot be considered as a complete revision course; however, it might constitute a basic outline for thought-provoking impulses for personal professional skills and expertise in managing such patients in later age from a surgical perspective.

Infant's physiological response to short heat stress during sauna bath.

Thermoregulatory response to Finnish sauna bath was investigated in 47 infants (age 3 - 14 month). Before taking a short sauna bath lasting 3 min, the infants stayed in a swimming pool for 15 min. Under these conditions sauna bathing did not increase the rectal temperature. Unexpectedly rectal temperature even decreased by 0.2 degrees C (p < 0.05) probably due to redistribution of cold peripheral blood into the core of the body. Mean systolic and diastolic arterial blood pressure and mean heart rate remained unchanged after sauna bathing. The blood pressure amplitude decreased significantly after the swimming period from 47 mm Hg to 38 mm Hg (p < 0.05) and rose again after sauna bathing to 42 mm Hg. All infants tolerated short heat exposure in the sauna without side effects. The circulatory adjustment was efficient. Even young infants were able to cope with the acute circulatory changes imposed by heat stress. Adequate thermoregulatory and cardiovascular adaptive responses to sauna bathing could be shown for the first time in infants between 3 and 14 months of age.