Epidemiology of congenital diaphragmatic hernia, Hawaii, 1987-1996

Congenital diaphragmatic hernias (CDHs) in Hawaii between 1987 and 1996 were examined with data from a birth defects surveillance system. There were 51 cases of CDH (prevalence 2.45 per 10,000 births). Forty-nine percent of livebirths survived, an increase over the rate reported in Hawaii in 1975-1982. These results are similar to those reported by other population-based studies.     

Epidemiology of gastroschisis in China

OBJECTIVE: To study the clinical and epidemiologic characteristics of perinates with gastroschisis (GA) in China. METHODS: The birth defects monitoring program was undertaken in 945 hospitals from 29 provinces, cities and autonomous regions of China. Data about perinates including intrauterine death and stillbirth from 28 weeks of gestation to a period of 7 days after birth was collected through the medical records between October 1986 and September 1987. RESULTS: A total of 194 cases with GA was found in 1243284 perinates monitored. The incidence of GA in China varied from 0.4 to 3.4 with a mean of 1.6 per 10,000. The highest prevalence was in Shandong province (3.4/10,000) which was significantly higher than the average (P < 0.01). The prevalence of GA perinates with low birth weight was higher than that with normal birth weight (1.6 vs 0.6 per 10,000, P < 0.01), as well as that in the rural area higher than in the urban area (2.5 vs 1.1 per 10,000, P < 0.01). 70.6% of the cases with GA were accompanied with other major defects. The overall perinatal mortality rate (PMR) of GA was 91.8%. PMR of GA with other birth defects (95.6%) was significantly higher than that of GA only (82.5%, P < 0.01). Only 15% of GA were diagnosed before birth. CONCLUSIONS: GA was a serious malformation. Cases with GA had high PMR and low detection rates in prenatal diagnosis, and most often accompanied with multiple defects.     

Prevalence of Down's syndrome in Asturias, 1987-1993. Members of the Work Group of the RCDA

OBJECTIVE: To determine the frequency of Down Syndrome (DS) in Asturias and the prenatal diagnosis impact on the birth prevalence of this chromosomal anomaly. METHODS: The analysed data came from the Registry of Congenital Defects of Asturias (1990-1993) and from a retrospective study conducted by the same working group (1987-1989). The total prevalence rates and the prevalence at birth were calculated. RESULTS: Out of 55,601 births, DS was recorded in 83 cases: 69 livebirths, two fetal deaths and 12 induced abortions following prenatal diagnosis, giving a total prevalence rate of 14.9 per 10,000 and a birth prevalence of 12.8. The proportion of induced abortions was 15 per cent in this period; the proportion of cases in the high risk maternal age group (35 years and over) was around 50% of the total. The proportion of induced abortions was 15 per cent in this period. CONCLUSIONS: The frequency of DS in Asturias is comparable to the other populations. Prenatal diagnosis had little impact on the birth prevalence figures. These results may help us draw up prevention and prenatal diagnosis policies for these defects in Asturias when giving the frequency of this health problem.     

Rubella vaccination and congenital rubella syndrome in Western Australia

OBJECTIVE: To review the incidence of congenital rubella syndrome (CRS) and the acceptance of schoolgirl rubella vaccination in Western Australia (WA), and to determine whether any groups in the community are at increased risk of having a child affected by CRS. DESIGN: Review of records of the WA Birth Defects Registry for cases of CRS; survey of obstetricians for terminations of pregnancy for maternal rubella infection; survey of schoolgirls eligible for the 1991 annual rubella vaccination campaign; review of Perth Immunisation Clinic and rural community and child health records; review of the rubella immune status of women tested antenatally. MAIN OUTCOME MEASURES: The incidence rate of CRS per 10,000 live births in WA 1980-1990; the incidence of rubella-associated terminations of pregnancy during 1990 and 1991; trends in rubella vaccine acceptance among WA schoolgirls between 1971 and 1991; and the proportion of women attending antenatal clinics who showed satisfactory immunity against rubella, stratified by country of birth. RESULTS: The incidence rate of CRS in WA remains below 2 cases per 10,000 live births. Approximately 86% of Perth schoolgirls have been vaccinated against rubella. Rubella vaccine acceptance fell in some country areas during the late 1980s, but is now returning to acceptable levels. Women born in Asia are at greater risk of having a baby affected by CRS than women born in Australia. Babies with CRS may be born to women who have previously been vaccinated against rubella. CONCLUSIONS: The incidence of CRS has fallen dramatically since the introduction of the schoolgirl vaccination program, but there is still a need for mechanisms to identify and vaccinate non-immune women.     

Declining HIV-2 prevalence and incidence among men in a community study from Guinea-Bissau

OBJECTIVE: To assess the present level of HIV-2 infection in an adult population in Bissau and to evaluate sex and age-specific changes in HIV-2 prevalence and incidence between 1987 and 1996. DESIGN AND METHODS: Sex and age-specific changes in HIV-2 prevalence were evaluated comparing a survey from 1987 in a sample of 100 houses with a survey performed in 1996 in an independent sample of 212 houses from the same study area. HIV-2 incidence rates were examined in an adult population (age > or = 15 years) from 100 randomly selected houses followed with four consecutive HIV serosurveys from 1987 to 1996. RESULTS: The HIV-2 prevalence in 1996 was 6.8% (men, 4.7%; women, 8.4%). Compared with the 1987 survey there was a significant decrease in prevalence among men [age-adjusted relative risk (RR), 0.50; 95% confidence interval (CI), 0.31-0.83], whereas it remained unchanged in women (RR, 1.00; 95% CI, 0.67-1.48). The male-to-female RR decreased from 0.99 (95% CI, 0.61-1.61) in 1987 to 0.51 (95% CI, 0.34-0.76) in 1996. The overall annual incidence rate was 0.54 per 100 person-years of observation (PYO), being higher in women (0.72 per 100 PYO) than in men (0.31 per 100 PYO). With the observation time divided into an early and a late period, there was a decrease in incidence with time among men (0.66 to 0.00 per 100 PYO), but no major change among women (0.59 to 0.85 per 100 PYO). The two trends differed significantly (P = 0.03). We observed a higher annual incidence rate amongst older women aged > 44 years (1.77 per 100 PYO) than among younger women (0.55 per 100 PYO; P = 0.05). CONCLUSION: There are no signs of an epidemic spread of HIV-2 in Bissau even though the HIV-1 prevalence is increasing rapidly. A significant reduction in the male HIV-2 prevalence and incidence rates has resulted in a major shift in the pattern of spread of HIV-2, from being equally distributed to being predominantly a female infection. Currently, older women in particular seem to have a high risk of getting infected.     

Outcome of very low birth weight infants in industrialized countries: 1947-1987

Neonatal intensive care has led to a progressive improvement in the survival of very low birth weight (VLBW, < 1,500 g) infants. However, it has not been established whether there has been a simultaneous increase or decrease in the prevalence of handicapping conditions in this group of children. To explore this question, a meta-analysis was performed using outcome data of 32 developmental studies of VLBW infants born in industrialized countries between 1947 and 1987. The authors' results show that the proportion of VLBW infants who survived and had an intact outcome progressively increased between 1947 and 1987--from 147 per 1,000 live births in the period 1947-1965 to 498 per 1,000 in the period 1980-1987 (p < 0.01). The prevalence of major handicapping conditions for the subset of VLBW infants who weighed < 1,000 g at birth increased, resulting from the increasing survival rates. However, the prevalence of major handicapping conditions among all children with VLBW decreased from 147 per 1,000 live births in 1947-1965 to 45 per 1,000 in 1980-1987 (p = 0.02). The authors' meta-analysis suggests that improved survival of VLBW infants has not been accompanied by an increase, but more likely a decrease, in the prevalence of handicapping conditions in this birth weight group.     

Epidemiologic characteristics of conotruncal heart defects in California, 1987-1988

In this population-based case-control study, we explored the association of selected parental and infant characteristics from the birth certificates of children with conotruncal heart defects. We compared 252 cases to a random sample of 5,000 nonmalformed infants from a cohort of 341,839 California live births for 1987-1988. The prevalence of conotruncal defects was 0.732 per 1,000 total births. A decreased risk (OR = 0.55, 95% CI0.33-0.89) for delivering infants with conotruncal defects was found among mothers born in Mexico compared to mothers born in California. An increased risk was observed for Native American mothers compared to non-Hispanic whites (OR = 2.6, 95% CI 1.1-6.0). We also compared risks associated with the individual diagnoses that comprise the group of conotruncal defects. Only minor differences in risk estimates between the anatomic diagnoses were observed, lending support to the methodologic approach of using conotruncal defects as a single category of heart defects in etiologic investigations.     

Prevalence, incidence, and risks for HIV-1 infection in female sex workers in Miami, Florida

Annual cross-sectional prevalence, incidence of new infection, and risks for human immunodeficiency virus type 1 (HIV-1) infection were studied in 607 women convicted of prostitution between October 1987 and December 1990 and tested for HIV under court order. Cross-sectional prevalence was stable for 4 years (23-24% positivity in 1987-1991, p = 0.6). However, the incidence of new infections (rate of seroconversion) in 264 women tested more than once increased significantly each year from 12 per 100 person-years in 1987-1988 to 19 per 100 person-years in 1991 (p < 0.03). Seroconverters were more likely to be young black women with a prior history of syphilis or gonorrhea. A new episode of syphilis or rectal gonorrhea during the follow-up period predicted HIV seroconversion in a survival analysis model. Female sex workers are at great risk of acquiring HIV infection. Although HIV prevalence in cross-sectional samples was stable, incidence was increasing. Interpretation of prevalence trends from convenience samples, such as screening programs, may be difficult because changes in incidence may not be detected.     

Neural tube defects among twin births

To obtain accurate, unbiased rates of neural tube defects (NTDs) in twins, we conducted a population-based study that included live births and fetal deaths in Los Angeles County, California, ascertaining cases by multiple methods. Twenty-eight twin cases yielded a prevalence-at-birth of 1.6/1,000 twin births, which is significantly higher than the singleton prevalence of 1.1/1,000 births. In twins compared with singletons, the prevalences of both encephalocele and anencephaly are increased, whereas spina bifida is decreased. The twin case male/female sex ratio (.55) is lower than the singleton case sex ratio (.77). Concordance is relatively low at 3.7%, but appears to be higher than recently reported recurrence risks in other low prevalence areas. Stillbirths were most common among female cases and like-sex twins. Our study tends to support proposed etiologic theories associating NTDs with females or monozygotic twins, or both. There is increasing evidence that the etiology of NTDs may differ in high and low prevalence areas. We suggest also that twins and singletons may differ in their response to etiologic factors. The variations among anencephaly, spina bifida, and encephalocele in their association with twinning suggest that there may be different factors that influence the development of each specific NTD. The noted differences among the malformations also indicate that some of the variation among results of other studies of NTDs and twinning may be due to case ascertainment. Including spina bifida cases would decrease the proportion of twins in a study population, while including anencephalics would increase the proportion. Importantly, ascertaining fetal deaths would increase the proportion of anencephalics and case females, so studies of NTDs that do not include fetal deaths will show fewer twins than expected. On the basis of our findings and those of Layde et al., excluding encephaloceles will also decrease the number of twins among NTD cases. When investigating etiologic hypotheses for NTDs, these potential biases must be recognized.     

Incidence and prevalence of juvenile chronic arthritis in East Berlin 1980-88

OBJECTIVE: To estimate the incidence and prevalence rates of juvenile chronic arthritis (JCA). METHODS: The study population was children under 16 years of age living in the East Berlin area (part of the former German Democratic Republic). By admission order that was effective up to 1990, all children with symptoms of a rheumatic disease living in the East Berlin area had to be referred to the 2nd Children's Hospital at Berlin-Buch. This specific condition allowed us to ascertain cases from the clinical records and to calculate population rates. Based upon this data, the results of surveys with different methods of case ascertainment are compared. RESULTS: An incidence rate of 3.5 per 100,000 and a prevalence rate of 2.0 per 10,000 children were calculated. The frequency of JCA is higher for girls, with an incidence of 4.3 per 100,000 and a prevalence of 2.3 per 10,000. The figures for boys are 2.7 per 100,000 and 1.7 per 10,000, respectively. CONCLUSION: Because of the specific prerequisites, the population rates of prevalence and incidence that were based on clinical records can be regarded as valid in this study. Deviant results of other surveys can be explained by differences in the study design or in the diagnostic procedures used.     

Cold pressor pain: comparing responses of juvenile arthritis patients and their parents

Neuroblastoma is one of the most common cancers of childhood. Some studies have shown an excess of congenital abnormalities in children who have been diagnosed with neuroblastoma. In this study we examined the medical records of all children with neuroblastoma seen at St. Justine Children's Hospital between the years 1977 and 1993. A total of 141 children (131 of French-Canadian ancestry) were included in this study. Twelve children (8.5%) had 21 defined congenital abnormalities (1,490 per 10,000 children). This compared with a rate of 444.3 children with abnormalities per 10,000 live births (4.44%) for all congenital abnormalities in the British Columbia Health Surveillance Registry, 1979-1988 (relative risk = 1.91, P = 0.03). Six of the 12 children had cardiovascular malformations. These and previous results suggest that there may be a common developmental origin to neuroblastoma and to some congenital malformations. Genes that control development may be worthy of further study in these children.     

Food avoidance in patients undergoing cancer chemotherapy

The incidence rates of Duchenne and Becker muscular dystrophies (X-linked recessive) in a given sample of the Italian population were recalculated using the results of DNA and dystrophin analysis. While the incidence rate of Duchenne muscular dystrophy remained unchanged, the new figure for the incidence of Becker muscular dystrophy (7.2 per 100,000 male live births) was much higher than previously reported, since molecular diagnosis revealed additional cryptic cases, but this incidence is still an underestimate.     

Depressive symptoms among international exchange students, and their predictors

Screening for fetal cardiac defects is traditionally based on the ultrasonographic examination of the four-chamber view of the fetal heart at mid-gestation, which has been shown to identify 26% of major cardiac defects. Pathological studies in fetuses with increased nuchal translucency at 10-14 weeks of gestation, a sonographic marker for chromosomal abnormalities, have shown an association between increased nuchal translucency and congenital abnormalities of the heart. This study reports the prevalence of cardiac defects in 1427 chromosomally normal fetuses with increased nuchal translucency thickness, and examines the potential value of this sonographic marker in screening for major cardiac defects. The diagnosis of cardiac defects was made either by postmortem examination in terminations of pregnancy and intrauterine or neonatal deaths or by clinical examination and appropriate investigations in live births. The prevalence of major cardiac defects was 17 per 1000 (24 of 1427 fetuses) and increased with translucency thickness from 5.4 per 1000 for translucency of 2.5-3.4 mm to 233 per 1000 for translucency of > or = 5.5 mm. These findings suggest that measurement of nuchal translucency thickness at 10-14 weeks may prove to be a useful method of screening for abnormalities of the heart and great arteries in addition to its role in screening for chromosomal defects.     

Changes in brain memory functions as affected by a constant magnetic field]

OBJECTIVE: The preferred route of delivery for breech presentation has been controversial. We compared the birth weight-specific neonatal mortality of vaginal births to cesarean births in singleton births with breech presentation. METHODS: A total of 371,692 singleton live births with breech presentation were selected for the study from the United States birth cohorts for the years 1989-1991. Differences in birth weight specific mortality were compared using a z-statistic for differences in proportions and by logistic regression. RESULTS: Compared to primary vaginal births, primary cesarean births had significantly lower neonatal mortality for all birth weight groups, despite increased prevalence of fetal malformations in the cesarean as compared with vaginally delivered group. This mortality difference was greatest in the first hour of life. Difference in overall neonatal (less than 28 days) mortality rate ranged from a low of 1.6-fold in the 500-749 g group (726.6 per 1000 vaginal births compared with 456.3 per 1000 cesarean births, P < .001) to as high as about three-fold in the 1250-1499 g group (232.9 per 1000 vaginal births compared to 72.5 per 1000 cesarean births, P < .001). In the group with birth weights over 2500 g, neonatal mortality in the primary vaginal births was 5.3 per 1000 and in the primary cesarean births, 3.2 per 1000 (P < .001). Similarly, repeat cesarean births had significantly lower birth weight-specific neonatal mortality, compared with vaginal births after previous cesarean. CONCLUSION: Singleton live births with breech presentation delivered by cesarean had lower birth weight-specific neonatal mortality as compared with vaginal births.     

Risk factors in congenital anal atresias

Congenital anal atresias were studied in a small geographical area in 225,752 consecutive births. For each of the 108 new cases studied during the period 1979 to 1995, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital anal atresias was 4.8 per 10,000 births. Sex ratio was 0.96. Prenatal diagnosis was performed in 14 cases and 11 cases were induced abortions. The more common types of associated malformations in the 45 non syndromic affected cases with at least one major anomaly other than anal atresia were renal agenesia, genital anomalies and ventricular septal defect. At births infants with anal atresia and other malformations were smaller, weighted less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with anal atresia were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital anal atresia took more often drugs during pregnancy than mothers of controls. Fathers of children with anal atresia were more often exposed to occupational hazards than fathers of controls. There was a significant association between anal atresia and consanguinity of parents (p < 0.05). The recurrence risk for first degree relatives of probands was 3.7%. First degree relatives of probands had more than twice the prevalence of non-anal atresia malformations than controls.     

Effects of depressive disorders on coronary artery disease: a review

In 1992, 112 pregnancies occurred per 1,000 U.S. women aged 15-19; of these, 61 ended in births, 36 in abortions and 15 in miscarriages. Black teenagers' rates of pregnancies, births and abortions were 2-3 times those of whites; Hispanic teenagers had rates of births and abortions between those of blacks and whites. While similar proportions of pregnant black and non-Hispanic white teenagers had abortions (40% and 38%, respectively), the proportion was lower among Hispanics (29%). Among all women 15-19, the birthrate rose 12 points between 1987 and 1991; one-third of the rise (four points) may be attributable to a fall in the abortion rate. Between 1991 and 1995, the birth rate of black teenagers fell from 116 to 96 per 1,000, a level well below that of Hispanics (106 per 1,000). Among the states, pregnancy rates per 1,000 teenagers in 1992 ranged from 159 (in California) to 59 (in North Dakota), birth rates per 1,000 varied from 84 (Mississippi) to 31 (New Hampshire) and abortion rates per 1,000 ranged from 67 (Hawaii) to nine (Utah). The pregnancy rates of white and black teenagers are negatively correlated.     

Delayed diagnosis of phenylketonuria as the cause of mental retardation in an adolescent

INTRODUCTION: The hyperphenylalaninemias (HFA) form a diverse group of recessive autosomic disorders. They are caused by defects in the hepatic system for hydroxylation of the amino acid phenylalamine to tyrosine. The estimated incidence is approximately 10 cases per 100,000 live births. Children with this metabolic disorder may present with varied neurological symptoms. Control of plasma levels, so that they are more normal as soon as possible after birth, significantly prevents mental retardation and other neuropsychological dysfunction. For this reason HFA has been included in neonatal screening. However, some patients are not detected on screening. When they are adults, these patients pose problems of diagnosis for neurologists who attend adults. CLINICAL CASE: We describe an adolescent with mental and linguistic retardation, in whom neonatal screening to rule out metabolic defects was normal. At the age of 15, the phenylalanine in blood and urine were found to be raised. On cerebral magnetic resonance changes typical of pheynylketonuria (PKU) were seen. CONCLUSIONS: The HFA should be considered as causes of cerebral dysfunction in adults, since in spite of neonatal screening, false negatives may occur. We describe a clinical case and consider different forms of hyperphenylaleninemias. Their diagnosis and treatment.     

Descriptive epidemiology of alimentary tract atresia

A study has been made on certain epidemiological characteristics of infants with alimentary tract atresia: esophageal atresia, small and large gut atresia, and anal atresia. Data were collected from three malformation registries and represent a material of more than 4.5 million births. A total of 3,550 infants with alimentary atresia were identified corresponding to a total rate of about 8 per 10,000 births. In 167 infants (4.7%) more than one of the major atresia types were present simultaneously. Racial differences were found (based on data from California) for esophageal atresia where whites had a higher rate than other races. For gastrointestinal atresia, a high rate in blacks was found, while no differences between races were seen for anal atresia. Also, differences in registered rates between the three programs were found, at least partly explainable by different ascertainment. The different forms of atresia were compared from the point of view of sex ratio, twinning rate, maternal age and parity distribution, presence of chromosome anomalies, and types of associated malformations. The pathogenesis and etiology of the various types of atresia are discussed based on these observations. The conclusion is that although undoubtedly other pathogenetic mechanisms may exist for gastrointestinal atresia, a substantial proportion of all infants with alimentary atresia had their malformations as a result of early disturbances of intestinal morphogenesis. Within each subgroup, apparently different etiologies may exist, resulting in differences in epidemiological characteristics.     

Annual treatment rates and estimated incidence of eating disorders in Austria

BACKGROUND: At present, the prevalence and incidence of eating disorders in Austria is unknown; not even rough estimates of countrywide annual treatment rates are available. AIMS: To assess the number of patients in Austria with eating disorders currently under treatment and to compare this rate with the estimated prevalence and incidence of eating disorders, thus providing an estimate of unrecorded cases and the appropriateness of health care for these disorders. METHODS: The number of patients being treated in major out-patient and in-patient facilities was assessed by questionnaires. Prevalence and incidence rates in Austria were estimated by extrapolation of epidemiological data from comparable Western countries to Austrian figures from the most recent population census in 1991. RESULTS: Altogether 1075 patients were being treated in 1994 at 26 institutions, including all specialized centres, pediatric and psychiatric university hospitals. Surprisingly, the annual treatment rates for anorexia and bulimia nervosa were equal. There is a considerable discrepancy between these treatment figures and prevalence/incidence estimates (in absolute numbers): the estimated anorexia nervosa point prevalence is about 2500 girls aged 15-20 years, whilst a minimum of 4400 girls suffer from subclinical eating disorders, and there are about 6500 bulimia nervosa cases in young women aged 20-30 years. The incidence might be about 600 new onset cases per year for anorexia, and about 870 for bulimia nervosa. The size of the problem (lifetime prevalence) may comprise at least 36,000 women with bulimia nervosa. CONCLUSIONS: Eating disorders pose a major public health problem for women in Austria. It is unlikely that the vast majority of unrecorded cases was treated in private practice or in hospitals which failed to respond to our questionnaire. The discrepancy between annual treatment rates and prevalence/incidence estimates points to a lack of specialized eating disorder units in Austria.