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Objective: The aim of this study was to describe the development of the autopsy rate in stillbirths and infant deaths in an 11-year period and evaluate the information gained by performing an autopsy. Methods: Included in the study were all stillbirths and infant deaths in Funen County, Denmark, in 1986-96. Data sources were death certificates and autopsy reports. Results: The study included 273 stillbirths and 351 deaths in infancy. The rates of stillbirth and infant death did not change significantly during the period. The overall autopsy rate for stillbirths was 70% and for infant deaths 57%. There was a significant decline in autopsy rate during the years 1991-96 as compared with 1986-90 for stillbirths, infant deaths and infant deaths excluding sudden infant death syndrome. In stillbirth, the autopsy changed the diagnosis in 9% of the cases. In 22%, the clinical diagnosis was maintained, but additional information was obtained. In infant death, the numbers were 10% and 40%, respectively. Conclusion: In 10% of the autopsies the diagnosis was changed completely, with an impact on genetic counseling as well as on statistical records of causes of death in fetuses and infants. With additional information in 22-40% of the autopsies, the study emphasizes autopsy as a useful investigation.

Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996–1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into ‘isolated’ when only a cardiac malformation was present and ‘associated’ when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non‐chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non‐chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20–24 weeks for the majority of associated cardiac defects. Copyright © 2001 John Wiley & Sons, Ltd.

Waste-disposal sites are a potential hazard to health. This study is a multicentre case-control study of the risk of congenital anomalies associated with residence near hazardous-waste landfill sites in Europe.

During the past 20 years, the prevalence of Down syndrome (DS) has increased with the increase in mean maternal age. The prevalence of multiple births has also increased because of older maternal age and use of assisted reproductive technologies. This study was designed to determine the maternal age–specific prevalence of DS in monozygotic and dizygotic pregnancies, assess risk relative to singleton pregnancies, as well as compare prenatal diagnosis and pregnancy outcomes for DS fetuses in multiple and singleton pregnancies.

The objective of this study was to describe prevalence and epidemiologic data on esophageal atresia from 23 well-defined European regions and to compare prevalences between these regions. We wanted to characterize the cases as syndromic, multiple malformed or isolated. Furthermore we wanted to characterize the cases with regards to gender, birth type, gestational age, birth weight and survival.The study is based on data from 23 European registries of congenital malformations (EUROCAT). For further details see www.eurocat.ulster.ac.uk/ memberreg/. All cases with ICD9 and ICD10 code with EA born 1987-2006 were included. The total number of births was 5,027,181.1222 cases of EA were recorded giving an overall prevalence of 2.43 per 10,000 births. There where large regional differences in the prevalence. Also the prenatal detection rates showed large regional differences.57.3% of cases were boys. 70.5% had a tracheoesophageal fistula along with the atresia.88.7% of cases were live births, 3.5% were still births and 7.8% were termination of pregnancy. Mean birth weight in the liveborn cases was 2462±766 grams and median gestational age was 38 (35-39) weeks.The cases were classified in three groups: 44.7% had isolated esophageal malformation, 31.6% were multiple malformed, 23.7% had an association or syndrome.During the study period the prenatal detection rates increased.There are large regional differences in the prevalence and in the prenatal detection rate.After diagnosis of EA, it is important to evaluate the infant for associated malformations or syndromes, as these are present in more than half of all cases.

Aim: To describe morbidity and mortality for infants born with GA 32-36 weeks in a Danish County.Material and Methods: Included were all infants with GA 32-36 weeks, born 2000-2006 and admitted to the neonatal unit at Hospital Lillebaelt. Data is from “Neobase” with data on treatment for all admissions. Further data on survival by the end of 2009 was included. Total births in the county were 32339.Results: The study included 1252 infants. Prevalence of births 32-36 weeks was 39 pr 1000 births. 447 infants (36 %) were from a multiple pregnancy. Twenty infants (1.6 %) died, 14 within the first week, 3 within 40 days and 3 within 6 months. The majority of infants (17, 85%) died with major congenital malformations.More than half of the infants were delivered by Caesarean section (640, 51%). 465 infants (37%) were treated with CPAP and 346 for more than 1 day. Fifty-one infants (4%) received surfactant treatment and 6 of these died. 467 infants (37%) received treatment for hypoglycemia and 289 needed glucose infusion. NEC was suspected clinically in only 1 infant.Conclusions: 3.9 % of all newborns in the population were admitted to the neonatal unit for treatment for moderate preterm birth. Infants born within GA 32-36 often need respiratory support. Mortality is much lower than for infants born with GA < 32 weeks, where a similar study from the “Neobase” showed a mortality of 11%, but higher than for term born infants. Mortality is mainly due to congenital malformations.