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Biomedical subjects

E Alberman

Publications and source records attributed to E Alberman.

At least 37 records · Page 2Linked to original sources
PubMed1998

Is there evidence of clustering in Down syndrome?

BACKGROUND: Associations between environmental hazards and the occurrence of congenital anomalies may be detectable by seeking evidence of non-random occurrence of cases (clusters). There have been a number of anecdotal reports of occurrences of clusters of Down syndrome (DS). METHODS: Data from a national register of cytogenetic diagnoses of Down syndrome births and legal terminations occurring between 1989 and 1995 were used to examine the possibility of clustering. Space-time clustering at Regional Health Authority (RHA) level was examined by comparing the expected monthly number of DS pregnancies given the maternal age distribution, with the observed numbers. Knox's method was used to determine if any clustering of RHA of unexpectedly high prevalence had occurred. Seasonality was also investigated by comparing monthly expected and observed numbers of DS pregnancies. Time clustering was examined by using the scan statistic to determine whether a statistically significant excess of pregnancies in any 3-month period occurred in any individual or adjacent groups of District Health Authority (DHA). RESULTS: The numbers of DS pregnancies were no higher than expected (P < 0.05) in the same RHA over consecutive months. There was no evidence of any seasonality of DS pregnancies (P > 0.5). Only two individual DHA and three pairs of adjacent DHA had significantly high scan statistics (P < 0.03), but as over 400 statistical tests had been completed 12 clusters would be expected to have occurred due to chance alone. CONCLUSION: There was no evidence of any space-time clustering in DS at DHA level.

Causality↗
PubMed1998

The impact of diagnostic labelling in population-based research into cerebral palsy.

This study explores and quantifies the impact on the estimation of prevalence rates and aetiological hypotheses of inclusion and exclusion of different diagnostic labels and types of cerebral palsy (CP). The study was based on data from a CP register which had been established in the English North East Thames Regional Health Authority (NETRHA). As a deliberate policy, no definition of CP was given to notifiers and no inclusion or exclusion criteria were specified. Clinical information, including known malformations, genetic disorders, and features that made the diagnosis doubtful, was requested. Rates and relative risks for different inclusion and exclusion criteria were calculated. The crude rate of CP as defined above was 1.6/1000 (95%CI 1.5, 1.7). Exclusion of all cases with a known or potentially causal association reduced this rate to 1.2/1000 (95%CI 1.0, 1.3). Comparison with an intensively investigated sample from Germany and Sweden showed that more of the same causal associations (or diagnostic labels) were found, particularly where MRI studies had been carried out. Future comparative studies in CP will need to be very precise in specifying inclusions and exclusions and in estimating the effects they will have on monitoring trends over time and aetiological hypotheses.

Cerebral Palsy↗
PubMed1998

Monitoring fetal and infant survival using regional birth notification data in north east London.

OBJECTIVE: To demonstrate the use of aggregated, locally collected birth notification data to examine trends in birth-weight specific survival for singleton and multiple births. DESIGN: Retrospective analysis of 171,527 notified births and subsequent infant survival data derived from computerised community child health records. Validation of data completeness and quality was undertaken by comparison with birth and death registration records for the same period. SETTING: Notifications of births in 1989-1991 to residents of the North Thames (East) Region (formerly North East Thames Regional Health Authority). OUTCOME MEASURES: Birthweight specific stillbirth, neonatal, and postneonatal death rates. RESULTS: There was close correspondence between the notification and registration data. For 96% of the registered deaths a birth notification record was identified and for the majority of these the death was already known to the Community Child Health Computer. Completeness of birth-weight data, particularly at the lower end of the range, was substantially better in birth notification data. Comparison with the most recent published national data relating to birthweight specific survival of very low birthweight singleton and multiple births suggests that the downward trend of mortality is continuing, at least in this Region. CONCLUSIONS: The use of routinely collected aggregated birth notification data provides a valuable adjunct to existing sources of information about perinatal and infant survival, as well as other information regarding process and outcome of maternity services. Such data are required for comparative audit and may be more complete than that obtained from registration or hospital generated data.

Birth Weight↗
PubMed1998

Survival in cerebral palsy: the role of severity and diagnostic labels.

The aim of this study was to review survival and certified causes of death of 584 children on a population-based register of cerebral palsy (CP), and to assess the impact on these of an additional diagnostic label. The register, established in 1985, comprised children with CP born from 1980 to about 1987 who were resident at the time of notification in the south-east of England in a region with between 3 and 4 million population, defined by the boundaries of the regional health authority (North East Thames Regional Health Authority). The current report concerns deaths of residents born between 1980 and 1986, who had been registered but had later died, as well as of eligible children who had not been registered while alive but whose cause of death was CP. These were identified at the Office of Population Censuses and Surveys who also supplied copies of death certificates for this study. For children notified while alive, information about motor severity and other diagnostic labels was sought at entry to the register and again between 3.5 and 4 years and between 7 and 8 years. For this study, children known to have a postneonatal onset, a progressive or non-cerebral cause of motor signs, or minimal motor involvement were excluded. Thirty-nine of 584 children included in this study had died by the end of 1995. No deaths had occurred in children known to have less than four-limb involvement. Survival of the group known to have an additional diagnostic label was significantly lower (86.2%) than that of the group with no known label (96.3%; P=0.01), and remained lower, although not significantly, if only those with severe four-limb involvement were compared (75.3% versus 92.4%; P=0.2). The greater severity of limb involvement in those with an additional diagnosis may not account for this difference. Of the 37 children with death certificates available, CP was mentioned as a cause in only 24.

Cause of Death↗
PubMed1997

The effects of own fetal growth on reported hypertension in parous women aged 33.

BACKGROUND: Data from the study of the British 1958 birth cohort, National Child Development Study (NCDS), has allowed wider investigation of the relationship between retarded fetal growth and risk of adult hypertension. METHODS: A history of self-reported hypertension was related to fetal growth in 3308 parous cohort members. Fetal growth, the measure used, is the difference in actual birthweight from that expected for the gestational age and subsequent adult height. The relationships were investigated both linearly and non-linearly adjusting for potential confounders. RESULTS: After adjustment for confounding factors, including adult weight for height, retarded fetal growth was associated with reported hypertension particularly when not confined to pregnancy. The latter was also associated with accelerated fetal growth, moderate or severe hypertension in the mother when pregnant with the cohort member, being relatively taller than your mother, and lack of educational qualifications. Hypertension confined to pregnancy was more likely among women who were themselves firstborn or older at childbirth. Neither maternal smoking during cohort's gestation nor cohort member's gestational age had a significant effect. The results are consistent with previous reports that fetal growth effects are less marked if gestation is short. CONCLUSIONS: The relationships between fetal growth and subsequent hypertension are extremely complex and variable, and need to be studied allowing for deviations from growth potential. Adult weight for height remains the strongest predictor of hypertension. The results suggest that losing weight is likely to have the same proportional benefit in women with and without a history of retarded fetal growth.

Adult↗
PubMed1997

Antecedent circumstances surrounding neural tube defect births in 1990-1991. The Steering Committee of the National Confidential Enquiry into Counselling for Genetic Disorders.

OBJECTIVE: To investigate births with neural tube defects at a time when most districts were screening for the condition. The objective was to document the circumstances surrounding each affected birth and assess the care provided against given standards. DESIGN: Retrospective review of antenatal casenotes by the obstetric team. POPULATION: Three hundred and eight births in England and Wales in 1990 to 1991 were reported to the Office of Population Census Survey (OPCS) to involve neural tube defects. Sufficient information was available to identify both the woman and the obstetrician in 213 pregnancies. Details were obtained from a questionnaire completed by the obstetric team for 168 (79%). In 20/168 cases either the reported outcome was not a live birth/stillbirth or the pregnancy did not involve a neural tube defect: eight resulted in a 'normal' infant, eight were terminated and in four the abnormality was not a neural tube defect. Thus 148 eligible cases were available for analysis. RESULTS: Of the 148 births, the anomaly was not detected prenatally or detected later than 25 weeks of gestation in 98 cases (66%), diagnosed in a multiple pregnancy in 24 (16%) and diagnosed prenatally but the woman chose to continue the pregnancy in 26 (18%). Of the 98 births not detected prenatally or detected late during pregnancy, the surrounding circumstances were that screening was declined in six cases (4%), screening was not offered due to late booking in 30 (20%), serum alpha-fetoprotein screening gave a false negative result in eight (5%), ultrasound screening gave a false negative result in 29 (20%), both screening methods gave false negative results in 17 (11%) and other reasons in eight (5%). The estimated sensitivity of ultrasound screening for anencephaly was 100%. For spina bifida the estimated sensitivity for singleton pregnancies is higher for serum alpha-fetoprotein screening, 84% to 92%, than ultrasound screening, 70% to 84%, for a range of assumptions regarding the degree of under-reporting to OPCS of live births and terminations. CONCLUSIONS: Late booking precluded the offer of screening tests in a substantial proportion (22%) of cases. The presence of multiple fetuses including one or more with a neural tube defect was a serious additional complication in prenatal screening, diagnosis and counselling. Screening for neural tube defects was widespread in 1990 to 1991, although variations in the services provided were documented. Ultrasound scanning was a major component but was associated with a lower sensitivity than maternal serum alpha-fetoprotein screening for neural tube defects other than anencephaly.

Anencephaly↗
PubMed1997

Medical causes on stillbirth certificates in England and Wales: distribution and results of hierarchical classifications tested by the Office for National Statistics.

OBJECTIVE: To produce a classification of stillbirths registered in England and Wales compatible with a previously described classification for neonatal deaths; to compare national data for intrapartum stillbirths with those for the remaining stillbirths; and to report on stillbirths with a gestational age of 24 to 27 completed weeks first made registrable on 1 October 1992. DESIGN: Algorithms were developed and tested to derive hierarchical cause classifications making use of multiple causes mentioned on stillbirth certificates. RESULTS: The additional information available since 1986 on cause and time of death of stillbirths, classified in a hierarchical fashion allows a more meaningful interpretation of the available information on the causes of stillbirth than was previously possible and does not perturb ongoing trends. Antepartum deaths without a classifiable cause contributed the majority: between 1992 and 1994 they accounted for 43% if mentions of asphyxial conditions are regarded as classifiable causes, and 82% if not considered as causal. Stillbirths described as occurring intrapartum are consistently of higher gestational age and birthweight than the remainder, lending validity to the time of death given. CONCLUSIONS: The national use of a classification including reported time of death of the fetus and mentions of asphyxial conditions is justifiable, providing a distinction is made between associated mentions and causal conditions. Better and more complete clinical information on stillbirth certificates will contribute further to understanding of their causes.

Algorithms↗
PubMed1997

Reliability of statistics on Down's syndrome notifications.

OBJECTIVES: To evaluate the completeness of notifications of Down's syndrome live births and terminations to the Office for National Statistics (ONS) using data from the National Down Syndrome Cytogenetic Register (NDSCR). To examine the agreement of observed birth prevalence of Down's syndrome with the expected birth prevalence derived from published maternal age specific rates. METHODS: The number of live births (adjusted to allow for the estimated underascertainment) and the number of terminations due to fetal Down's syndrome from NDSCR were compared with those figures reported to the ONS. Subsequently, using the NDSCR figures, the live birth prevalence of Down's syndrome that would have occurred in the absence of antenatal diagnosis and selective termination was calculated in England and Wales in the years 1990-1993. These figures were compared with those derived by applying published age specific prevalences to the maternal age distribution in England and Wales. RESULTS: It is estimated that only 48% and 46% respectively of Down's syndrome live births and terminations of pregnancy were notified to ONS between 1990 and 1993. The annual expected birth prevalences of Down's syndrome obtained by applying maternal age specific prevalences to the maternal age distribution were in close agreement with observed rates from NDSCR. CONCLUSIONS: There is considerable underreporting of Down's syndrome births and terminations to ONS. The NDSCR data are more complete and therefore the effects of screening should be monitored using data from this source, or using estimates derived from the age specific rates of Down's syndrome.

Abortion, Induced↗
PubMed1996

A twin study of congenital hemiplegia.

Twins were more than three times more common in a large sample of London children with congenital hemiplegia than in the general population. This over-representation of twins could largely be explained by their higher rate of preterm birth, though twin-specific risk factors, including the consequences of a co-twin's death in utero, may also have played a part. None of the 34 co-twins who survived infancy had hemiplegia or any other form of cerebral palsy. Among 155 siblings of singletons with congenital hemiplegia, no child had hemiplegia and only one had cerebral palsy. Perhaps it is chance rather then genetic liability or an adverse environment that primarily governs who does and does not become congenitally hemiplegic.

Adolescent↗
PubMed1996

Cerebral palsy: effects of twinning, birthweight, and gestational age.

AIMS: To determine the effects of birthweight and gestational age on the risk of cerebral palsy for multiple and singleton births. METHODS: Children on the North East Thames Regional Health Authority Interactive Child Health System, born between 1 January 1980 and 31 December 1986, and notified as having cerebral palsy, were included. Cases of postneonatal onset, of known progressive, or non-cerebral pathology and with only mild signs were excluded. Rates and relative risks were calculated using the most complete data, which related to 1985-86, and comprised 102,059 singletons and 2367 twins. Logistic regression was used to examine the associations between being a twin, gestational age, and birthweight. RESULTS: The crude rate per 1000 survivors at 1 year of age was 1.0 in singletons and 7.4 in twins. The relative risk was greatest in twins weighing more than 2499 g (4.5). However, after adjusting for reduced birthweight of twins it was the relative risk of twins weighing less than 1400 g that was significantly increased. Logistic regression confirmed that lower fetal growth, lower gestational age, and being a twin are all independent risk factors for cerebral palsy. CONCLUSION: The increased risk to twins of cerebral palsy is not entirely explained by their increased risk of prematurity and low birthweight.

Birth Weight↗
PubMed1996

Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists.

Data from the National Down Syndrome Cytogenetic Register is used to describe the cytogenetics and epidemiology of registered cases. The register comprises notifications from cytogenetics laboratories in England and Wales. This report is of 5737 cases registered between 1989 and 1993: 2169 prenatal and 3436 postnatal diagnoses, and 132 spontaneous abortions. Eighty eight registrations were from multiple pregnancies. Ninety five percent had regular trisomy 21. In 4% there was a translocation, mostly Robertsonian t(14;21) or t(21;21). One percent were mosaics with one normal cell line. Mean maternal age was raised in free trisomy 21, but not in translocations. Where families had been investigated, about a third of translocations were inherited, six to seven times more often from the mother than the father. Associations between free trisomy 21 and structural chromosomal defects in the births were no more common than expected from newborn series. The overall sex ratio was raised (male to female: 1.23 to 1), and there was an excess of associated male sex chromosomal aneuploidy. However, in mosaics with one normal cell line the male to female ratio was 0.8 to 1, and in twins discordant for trisomy 21 there was also a female excess.

Adult↗
PubMed1996

Early mortality and morbidity in children with Down's syndrome diagnosed in two regional health authorities in 1989.

OBJECTIVES - To assess the risk of early mortality and the quality of health of a recent cohort of 5 year old children with Down's syndrome to provide current information on prognosis. SETTING - A follow up study in 1994 of all live births with a cytogenetic diagnosis of trisomy 21 or related karyotype born in 1989 and diagnosed in the South East Thames and Oxford Regional Health Authorities; these amounted to 100 children. RESULTS - Eighteen of the sample of 100 had died in the first three years, and seven were reported as adopted. Fifty six mothers were interviewed, including five of children who had died. High rates of associated congenital defects were reported. The most common were congenital heart defects, which were reported for 29 of the 69 children for whom health information was available, and were certified as the underlying cause of death of 12 and required surgery in 11. At least five children had had gastrointestinal atresia or other gut blockage, most presenting at birth but one case occurring at 3 years, and these had necessitated a colostomy in two cases. Leukaemia had occurred in two children, both of whom had died. As expected mothers also reported high rates of defects of hearing, often treated with grommets; of vision; and frequent severe infections. CONCLUSIONS - Information of this nature, as well as that regarding the more positive aspects of Down's syndrome, should be made available to those counselling parents considering the offer of diagnostic tests.

Adoption↗
PubMed1995

Down's syndrome births and pregnancy terminations in 1989 to 1993: preliminary findings.

OBJECTIVE: To investigate changes in the numbers of Down's syndrome births and terminations of pregnancies from 1989 to 1993. DESIGN: Data from a national register of cytogenetic diagnoses of karyotypes associated with Down's syndrome were analysed to obtain observed numbers of births and terminations of pregnancies known to be affected. Allowance was made for those cases diagnosed prenatally for whom the eventual outcome of the pregnancies had not yet been ascertained. RESULTS: There has been an increase over the study years in the number of cytogenetic diagnoses of Down's syndrome from 1063 in 1989 to 1137 in 1993, despite an overall fall in births in England and Wales. This is largely due to the increase in antenatal screening and diagnosis, but in part also due to the rise in numbers of pregnancies at increased maternal ages. The rise in prenatally diagnosed cases, of which 92% end in termination, has been accompanied by a fall in both the estimated numbers of affected live births, from 764 in 1989 to 615 in 1993, and the rate per 1000 total live births in the same years from 1.1 to 0.9. CONCLUSIONS: Better and speedier information on the outcome of prenatally diagnosed cases of congenital anomalies such as Down's syndrome would improve the quality of information available for those auditing genetic services or those planning for the care of survivors.

Abortion, Legal↗
PubMed1995

The natural history of Down syndrome conceptuses diagnosed prenatally that are not electively terminated.

The pregnancy outcomes on cases of Down syndrome diagnosed prenatally in which the mother did not elect termination were evaluated in data reported to a comprehensive Register of Down syndrome for England and Wales for 1989-94. In the 168 cases in which placental biopsy was not used, the overall rate of spontaneous loss was 35%, but this figure masks considerable heterogeneity by gestational stage at ascertainment. Data on ages at diagnostic procedure and on pregnancy termination enabled a more precise survival analysis. The loss rates were approximately 50% for those fetuses ascertained at 15-17 completed wk, 43% at 18 wk, 31% at 19 wk, 25% at 20 wk, and then a leveling off at approximately 20%-25% for fetuses ascertained at 21-28 completed wk. For fetuses ascertained prior to 18 wk, there was no evidence that maternal age was associated with fetal loss, consistent with earlier reports. At 18 wk and after, however, maternal age was on the average approximately 3 years greater in fetuses that were lost. Comparison of successive gestational birth cohorts provided no evidence in these 168 cases that the diagnostic procedure itself had any effect on loss or that selective ascertainment of mothers in risk of loss had any effect on the results. In contrast, in the 21 cases in which placental biopsy had been undertaken, the overall loss rates were not only higher when appropriate comparisons could be made, but there was some evidence for selective ascertainment and/or procedure-associated losses.(ABSTRACT TRUNCATED AT 250 WORDS)

Abortion, Spontaneous↗