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Ester Garne

Publications and source records attributed to Ester Garne.

11 recordsLinked to original sources

Atrial and ventricular septal defects - epidemiology and spontaneous closure.

OBJECTIVE: To present data on the epidemiology and spontaneous closure for septal defects (secundum atrial septal defect (ASD) and/or ventricular septal defect (VSD)). METHODS: Data from the EUROCAT Registry of Congenital Malformations for Funen County, Denmark were analyzed. All infants born from 1986 to 1998, diagnosed with a secundum ASD and/or a VSD as the only cardiac malformation, were included. RESULTS: There were 78 infants with an ASD, 195 with a VSD, and 19 had both an ASD and a VSD. The overall prevalence of septal defects was 4.1 per 1000 livebirths. Among the VSDs 45% were perimembranous and 55% were muscular defects. Associated non-cardiac malformations, syndromes, or karyotype anomalies were present in 54 cases (19% of total) but with a significantly lower proportion among cases with muscular VSDs (7%, p < 0.05). Eighty-one percent of the cases had an isolated cardiac malformation. Five of 61 cases (8%) with isolated ASD were closed surgically before five years of age and 43 (70%) closed spontaneously within the first five years of life. Of the 65 cases with isolated perimembranous VSDs, 13 were closed surgically (20%) and 13 closed spontaneously (20%). Of the 99 cases with isolated muscular VSDs no defects were closed by surgery and 64 (65%) closed spontaneously. The rate of spontaneous closure for perimembranous and muscular VSDs were significantly different (p < 0.0001). CONCLUSIONS: Secundum ASD has a high rate of spontaneous closure. Perimembranous and muscular VSDs seem to be two different diseases with different epidemiology and natural history.

Chromosome Aberrations↗

[Prevention of neural tube defects with periconceptional folic acid supplementation in Europe].

The conclusion of a report recently published by EUROCAT is that the potential for preventing neural tube defects with periconceptional folic acid supplementation is still far from being fulfilled in Europe. A number of recommendations to increase periconceptional folate status are made. In Denmark less than 20% of pregnant women follow the official recommendations on periconceptional folic acid supplementation, making the conclusions of the EUROCAT report relevant.

Denmark↗

[Maternal diabetes and congenital malformations].

Maternal diabetes is a known risk factor for congenital malformations. Maternal hyperglycemia is a non-specific teratogen. The risk of congenital malformations, even with optimal metabolic control, is considerably elevated compared with non-diabetic pregnancies. The relationship between maternal hyperglycemia in early pregnancy and the risk of congenital malformations seems to be linear without any threshold level. To diminish the risk of congenital malformations, close preconceptional and first-trimester diabetic control and folic acid supplementation of 5 mg/day are recommended.

Congenital Abnormalities↗

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe.

OBJECTIVE: To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. DESIGN: Analysis of data from population-based registries of CM. SUBJECTS: 25 400 cases of CM recorded by 14 EUROCAT registries covering a total population of 1,013,352 births 1995-99. RESULTS: US were performed in 91% of cases, and positively detected CM in 35% of cases. AC was performed in 24% of the cases and CVS in 3% of cases. Thirty-eight percent of invasive tests gave positive results. Fifty-two percent of cases with maternal age > or = 35 years had an invasive test performed compared to 20% of cases with younger mothers. Considerable variation was found between registries in the uptake rate of invasive tests in cases with older maternal age and on the use of invasive tests with only four regions employing CVS techniques in at least a third of the cases having invasive tests. For chromosomal anomalies US gave positive results in 46% of cases with maternal age < 35 years with US performed and in 36% of cases with maternal age > or = 35 years with US performed. CONCLUSION: Prenatal US was performed in 91% of all pregnancies with CM but the test was only positive in a third of the cases. There was large regional variation in the uptake rate of invasive tests with maternal age of 35 years or more. For every CVS carried out there were nine AC tests. US is an important tool in the prenatal diagnosis of chromosomal anomalies in Europe.

Abnormalities, Multiple↗

Congenital heart defects -- occurrence, surgery and prognosis in a Danish County.

OBJECTIVE: To present population-based data on prevalence, surgery and mortality for infants and children up to 5 years of age with congenital heart disease (CHD). DESIGN: Data from the EUROCAT Registry of Congenital Malformations for Funen County, Denmark, 1986-1998. RESULTS: Five hundred and seventy-three infants and children were diagnosed with a CHD and livebirth prevalence was 7.9 per 1000 births. Thirty-two percent of all infants and children had an intervention (surgery or catheter treatment) performed. Eighteen percent died within the first 5 years with the majority of deaths within the first years of life. For 74% of all deaths, surgery had not been performed. There was a decline in mortality for 1994-1998 compared to 1986-1993 both as a percentage of all cases (p < 0.05) and all deaths per 1000 births (p = 0.13), and deaths within the first 28 d after surgery almost disappeared during the study period. CONCLUSION: Mortality and morbidity for infants and children with CHD is rather high although surgical mortality has improved considerably. Survival may be improved further for the small group of severely ill newborns dying before surgery. In newborns with multiple malformations, however, survival might not be possible or desirable.

Child, Preschool↗

Toward the effective surveillance of hypospadias.

Concern about apparent increases in the prevalence of hypospadias--a congenital male reproductive-tract abnormality--in the 1960s to 1980s and the possible connection to increasing exposures to endocrine-disrupting chemicals have underlined the importance of effective surveillance of hypospadias prevalence in the population. We report here the prevalence of hypospadias from 1980 to 1999 in 20 regions of Europe with EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers, 14 of which implemented a guideline to exclude glanular hypospadias. We also report data from the England and Wales National Congenital Anomaly System (NCAS). Our results do not suggest a continuation of rising trends of hypospadias prevalence in Europe. However, a survey of the registers and a special validation study conducted for the years 1994-1996 in nine EUROCAT registers as well as NCAS identified a clear need for a change in the guidelines for registration of hypospadias. We recommend that all hypospadias be included in surveillance, but that information from surgeons be obtained to verify location of the meatus, and whether surgery was performed, in order to interpret trends. Investing resources in repeated special surveys may be more cost-effective than continuous population surveillance. We conclude that it is doubtful whether we have had the systems in place worldwide for the effective surveillance of hypospadias in relation to exposure to potential endocrine-disrupting chemicals.

Confounding Factors, Epidemiologic↗

The impact of multiple pregnancies and malformations on perinatal mortality.

AIM: To evaluate the impact of the rate of multiple pregnancies and congenital malformations on perinatal mortality. METHODS: The study is based on data from the perinatal audit in Vejle County Denmark. Fetal deaths with gestational age > or = 22 weeks and deaths in livebirths within the first 28 days after birth were included in the calculated perinatal mortality. Total number of births was 30,181 and 252 pregnancies and 268 fetuses/infants were evaluated. The study period was 1995-2000. There was no routine ultrasound screening for congenital malformations in the county, though midtrimester ultrasound was used to assess gestational age. RESULTS: Perinatal mortality was 8.9 per 1000 births with no significant change over time. Rate of multiple pregnancies was 1.94% ranging from 1.81% during the first 3 years to 2.06% for the last 3 years (not significant). Fetuses and infants from multiple pregnancies contributed 18% of all deaths. Perinatal mortality for single births was 7.6 per 1000 births and for multiple births 42.2/1000 (P<0.0001). The distribution of gestational age for single and multiple births was highly significant (P<0.0001) with 67% of multiple pregnancies with GA < 28 weeks compared to 26% of single pregnancies. Nineteen percent of all deaths were caused by congenital malformations and the majority of these were potentially detectable by ultrasound investigation. CONCLUSIONS: The increasing rate of multiple pregnancies makes it difficult to see improvements in perinatal mortality. Calculated from the perinatal mortality in single and multiple pregnancies in Vejle County assisted conceptions contribute with an an excess of 45 perinatal deaths per year in Denmark. The difference between countries in rate of multiple pregnancies and in prenatal ultrasound screening recommendations for malformations makes it difficult to compare perinatal mortality.

Abnormalities, Multiple↗

[Congenital hydrocephalus--prevalence and prognosis. Mortality and morbidity in a population-based study].

INTRODUCTION: The aim was to describe the prevalence and to estimate the prognosis of congenital hydrocephalus (HC) in fetuses and children. MATERIAL AND METHODS: Data for the study were taken from the Eurocat Register of Congenital Malformations for the County of Funen and from medical records. The study includes liveborn, intrauterine deaths, and induced abortions. All cases with HC born in the County of Funen in the years 1986-1998 were included. The followup period is three years after birth. RESULTS: The prevalence of HC was 0.4/1,000 births. There were 29 cases of HC, out of which 21 were liveborn. 41% had associated malformations, syndromes and/or chromosome abnormalities, and mortality of these compared to cases with isolated HC were significantly increased (p < 0.05). 18 children had shunt surgery and 12 children had one or more reoperations. At the age of three, four children had died, 12 had neurological problems related to their HC, and five children were described as normal. DISCUSSION: We found high mortality and morbidity in fetuses and children with HC. Mortality was significantly increased if associated malformations, syndromes and/or chromosome abnormalities were present. After prenatal diagnosis of HC it is important to look carefully for other malformations and to perform a karyotype before information about the prognosis of the fetus is given to the parents.

Abnormalities, Multiple↗

[Hypernatremia in newborns].

Two cases of severe hypernatremia in healthy newborns are described. They were term infants with normal birthweight and breastfed at the discharge from the maternity ward. The infants had not been weighed from the time of birth until the day of admission to hospital at an age of seven and nine days. At the admission, the weight loss was 18% and 22% and the sodium concentrations were 160 and 164 mmol/l. After rehydration mainly orally they were discharged bottle-fed after five and eight days, respectively. None of the mothers were able to breast-feed their infants at the time of admission. To prevent breast-feeding malnutrition and hypernatremia it is recommended that all newborns are seen and weighed by a professional during the second half of their first week of life.

Breast Feeding↗

[Congenital heart defects in the county of Fyn. Epidemiology and mortality 1986-1995].

INTRODUCTION: The aim was to describe the prevalence of congenital heart diseases (CHD), mortality during the first year of life, and the impact of associated malformations on survival. MATERIAL AND METHODS: All children born in the County of Fyn in 1986-1995, who were diagnosed with CHD and recorded in the Eurocat Registry of Congenital Malformation were entered. The registry is population-based and the information is derived from multiple sources. It covers live births, fetal deaths with a GA (gestational age) > or = 20 weeks, and induced abortions after prenatal diagnosis of congenital malformations. Only cases diagnosed by echocardiography, catheterisation, surgery, or post mortem examination were included. RESULTS: Four hundred and forty-six infants born during the study period were diagnosed with CHD before 1998, giving a prevalence of 8.0 per 1,000 live births. The prevalence of ASD + VSD had increased in the period of 1991-1995 compared to 1986-1990 although not significantly. Ten per cent had karyotype anomalies and nine per cent had associated malformations. Only 3% were diagnosed prenatally, 49% were diagnosed before the age of one week, and ten per cent were diagnosed after the first year of life. CHD mortality during the first year of life was 18% (80/446) and was significantly increased for infants with associated malformations (p < 0.01) or karyotype anomalies other than Down syndrome (p < 0.01). CONCLUSIONS: The prevalence of CHD in the County of Fyn corresponds to the data in the literature. At the time of introduction of colour Doppler echocardiography there was an increase in the proportion of infants diagnosed with ASD and VSD, although not significantly. Mortality was high, but 20% of deaths were infants with a hypoplastic left heart. In regions with prenatal ultrasound screening for malformations, this was often diagnosed prenatally followed by termination of pregnancy. For infants with CHD, it is important to verify, whether there are associated malformations or karyotype anomalies, as they have a significant impact on the prognosis.

Denmark↗