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Objective To illustrate regional changes that occurred in screening for Down's syndrome (trisomy 21) in England and Wales from 1989 to 2008. Methods The National Down Syndrome Cytogenetic Register has collected data on all ante- and postnatal diagnoses of Down's syndrome in England and Wales since 1989 (n = 27,954). The percentages of (i) diagnoses made antenatally, (ii) antenatal diagnoses that had nuchal translucency (NT) measured, and (iii) antenatal diagnoses in mothers aged 37 and over with advanced maternal age as the sole recorded indication for diagnosis are presented according to where the mother lived Government Office Region), year of diagnosis (1989-1994, 1995-2000, 2001-2006, 2007-2008), and maternal age (<37 years, ≥37 years). Results The percentage of cases diagnosed antenatally has increased in younger women but varies between regions. It remained relatively constant at approximately 70% in older women. The use of NT measurement in antenatal screening has expanded rapidly but varies regionally, being most common in London and the South East where, in 2007-2008, over 75% of antenatal diagnoses in older women had NT measured. The sole indication of advanced maternal age has substantially reduced, and was less than 10% in older mothers in all regions in 2007-2008. Conclusions There are regional and maternal age variations in Down's syndrome screening and diagnosis. Some regions used NT measurements, and eliminated advanced maternal age as sole reason for antenatal diagnostic testing more quickly than others. The reasons for variations need to be identified and addressed to ensure that when new screening techniques become available, regional differences are minimized. [ABSTRACT FROM AUTHOR]

Objectives: To revise the estimates of maternal age specific live birth prevalence of Down's syndrome in the absence of antenatal screening and selective termination using newly available data. Setting and Design: Data were used from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all antenatally or postnatally diagnosed cases of Down's syndrome in which a karyotype was confirmed between 1989 and 1998 in England and Wales. It is the largest single series of data on the prevalence of Down's syndrome. Results and conclusion: The prevalence does not continue increasing at an increasing rate with age above age 45 as has been previously assumed. Above this age the rate of increase declines with increasing age. The overall age pattern is sigmoidal. A new logit logistic model is proposed which fits the data well. The risk of a Down's syndrome live birth is given by: risk=1/(1+exp(7.330-4.211/(1+exp(-0.282x(age-37.23))))). [ABSTRACT FROM AUTHOR]

Aims: To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups.Methods: A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk near hazardous waste landfill sites. As a measure of socioeconomic status, cases and controls were given a value for the area level Carstairs deprivation index, by linking the postcode of residence at birth to census enumeration districts (areas of approximately 150 households).Results: Risk of non-chromosomal anomalies increased with increasing socioeconomic deprivation. The risk in the most deprived quintile of the deprivation index was 40% higher than in the most affluent quintile. Some malformation subgroups also showed increasing risk with increasing deprivation: all cardiac defects, malformations of the cardiac septa, malformations of the digestive system, and multiple malformations. No evidence for socioeconomic variation was found for other non-chromosomal malformation groups, including neural tube defects and oral clefts. A decreasing risk with increasing deprivation found for all chromosomal malformations and Down's syndrome in unadjusted analyses, occurred mainly as a result of differences in the maternal age distribution between social classes.Conclusion: Our data, although based on limited numbers of cases and geographical coverage, suggest that more deprived populations have a higher risk of congenital anomalies of non-chromosomal origin and some specific anomalies. Larger studies are needed to confirm these findings and to explore their aetiological implications. [ABSTRACT FROM AUTHOR]

Focuses on three birth cohort studies conducted in Great Britain. Importance of such studies; Features of the studies; Impact of the studies on the country's medical policy.

There is considerable literature on intergenerational influences on birthweight. Few studies have been able to investigate such influences on the more basic measures of birthweight for gestational age and gestational age itself. This paper considers fetal growth. The investigations are derived from the 1958 British birth cohort followed from birth to age 33 years. Included were questions on physical and social characteristics of each parent and the grandparents, and birth details of parent and first child. In the present study, fetal growth in non-preterm babies, after adjustment for the known effects of smoking and sex of the child, is explained best by factors relating to the parent's own growth, primarily in utero, but also to adulthood. There are small additional effects of education or social class but not of parent's gestational age. Only 15% of the variability in the child's fetal growth can be explained by the mother's characteristics and approximately 7% by the father's. Parent's own fetal growth accounts for nearly half of the variability if unadjusted for other factors and nearly a third after adjustment for sex of child, smoking, parental height and weight, maternal age at menarche and paternal age at first birth. Parental fetal growth makes the greatest anthropometric contribution. [ABSTRACT FROM AUTHOR]

The 1958 British cohort study has data to investigate intergenerational effects on preterm delivery and on gestational age in non-preterm births, allowing for many confounders that may differ in the more pathological preterm babies. Previous results for all gestational ages-have been inconsistent. The strongest and only likely independent intergenerational effect on non-preterm gestational age found is parental gestational age (adjusted regression coefficient = 0.067 weeks per week in mothers and 0.045 in fathers). The preterm analysis has low power; however, reported history of hypertension in mothers (any), in fathers and in the maternal grandmother (measured in the 1958 pregnancy) all significantly and independently increased the risk of preterm birth [OR = 1.7, 2.0, 1.5 respectively]. The absolute risk was particularly high in hypertensive mothers who had been preterm themselves (21%). Other possible intergenerational influences of height, weight, fetal growth and gestation were not significant enough and/or consistent enough between parents to speculate whether they are truly intergenerational or confounded by other factors acting during the pregnancy. Excepting mother's weight for height, no genetic or environmental influence studied affects both gestational age and fetal growth in term births. However, many maternal factors that reduce either fetal growth or gestation in term births are associated with increased risk of preterm birth. [ABSTRACT FROM AUTHOR]

The article focuses on birthweight distributions in a population in Great Britain. A strong relationship exist between birthweight and infant mortality. One can easily ascertain the risk of having certain long-term disabilities including cerebral palsy, sensory disorders, and intellectual deficits. There is a consecutive reduction in birthweight due to proportion of first born births and decrease in smoking in women.

To demonstrate the use of aggregated, locally collected birth notification data to examine trends in birth-weight specific survival for singleton and multiple births. 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. Notifications of births in 1989-1991 to residents of the North Thames (East) Region (formerly North East Thames Regional Health Authority). Birthweight specific stillbirth, neonatal, and postneonatal death rates. 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. 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM PUBLISHER]

The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described. [ABSTRACT FROM PUBLISHER]

A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn. [ABSTRACT FROM PUBLISHER]

Ninety four neurologists in the United Kingdom, China, and West Germany responded to two structured questionnaires. The first assessed the diagnostic weighting assigned to a number of symptoms, signs, and clinical investigations ascertained from classical descriptions and case notes of patients with motor neuron disease (MND). The second tested the likelihood and consistency of diagnosis in a series of case summaries representing the clinical data of 10 patients with clinically and pathologically documented motor neuron disease. There was a wide measure of agreement concerning the common clinical features of the disease, especially regarding fasciculation of the tongue, fasciculation associated with weakness seen in more than one limb, and dysphagia. In the case summaries, however, there was clear variation in the ranked likelihood of the diagnosis of MND and in the consistency of diagnostic behaviour in the different groups of neurologists. These findings support the need for internationally agreed criteria in the diagnosis of MND. Any such criteria will need to be tested against a standardised data set to establish their validity. [ABSTRACT FROM AUTHOR]

A review of 580 hospital case notes of patients with motor neuron disease (MND) revealed 20 families in which more than one case had been reported. For 27 of the cases in these families full medical records were available, and a history of a further 37 affected family members were obtained. The cases in these 20 families are termed familial and the remainder sporadic. Parent to child transmission occurred in 16 of the 20 families of the familial cases, suggesting autosomal dominant inheritance. In three families there was involvement of siblings only, and in one family two cousins were affected. The sex ratio for the documented familial case records seen was 0.8:1 (M/F = 12:15), for the total (documented and historical) it was 1.06:1 (33:31), but in sporadic cases it was 1.6:1 (341:212) and more frequent occurrence of sensory features at presentation was reported in the familial cases (15% in the familial cases and 5% in the sporadic cases). However, none of these differences reached statistical significance. Familial cases also differed from sporadic cases in having a younger age of onset (a mean of 52 years in the familial cases compared with 56 years in the sporadic) and in the shorter median reported duration of illness (1.1 year in the familial cases; 2.6 years in the sporadic). However, in only one fifth of sporadic cases was the age at onset and death known, although this was known for 22 of the 27 familial cases, so that the data on survival and age of onset are too incomplete to test formally. [ABSTRACT FROM AUTHOR]

Using current demographic projection of maternal age-structure, age-specific fertility rates, and the availability, detection and utilization rates of prenatal diagnosis and subsequent termination rates, predictions are made of the likely numbers of births with Down's syndrome (DS) in England and Wales to be expected up to the year 2000. Further predictions are made of age-specific prevalence of the condition bearing in mind recent trends in survival. These figures show that, despite current screening policies based on maternal age alone, the observed live birth prevalence of DS will rise to levels higher than have been seen for 20 years. Together with consistently increased survival, this will mean that, throughout the next century, the population prevalence of DS will be higher than ever before. Work based in other countries has reached similar conclusions. As the prevention of all births affected by DS is not possible in the forseeable future, and some would argue that it is not desirable, society will need to provide for those affected. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The cause of motor neuron disease (MND) remains unknown although recent reports have suggested a possible rise in mortality rate. The present account describes age-specific patterns in morbidity rate and cross-sectional and cohort analyses of mortality rate, and compares these with those in multiple sclerosis and Parkinson's disease. First hospital admission rate for motor neuron disease (a proxy for incidence rates) rose steadily with age in males and females until the age of 75 years or more, but then fell, but only in females. This irregular pattern suggested the possibility of an environmental effect on certain older birth cohorts. The validity of the results was supported by a similar pattern in the two hospital regional authorities studied and the difference between this pattern and that found in multiple sclerosis and Parkinson's disease. Age-specific mortality rates of motor neuron disease between 15 and 64 years for males and females in England and Wales from 1940 to 1982 rose steadily with age. Mortality rates after the age of 65 fell in all female cohorts studied, but only in the earlier male cohorts. Unlike Parkinson's disease there was no strong birth cohort effect. However an analysis of Office of Population Censuses and Surveys (Registrar General) reports has revealed a slight increase in the age-specific mortality rate in both males and females aged 65 and over for successive birth cohorts born since 1900. Neither changes in ICD coding or in diagnostic habits could account for this pattern, which differed from that seen in Parkinson's disease. No such effect was seen in multiple sclerosis. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The prevalence of visual defects at ages 7 to 9 in 1485 children of birthweight 2000 g or less is reported. These children were born in 1970, 1971, and 1973 to parents resident in what is now the South East Thames Regional Health Authority area, and comprise 73.9% of all survivors of births of this weight, 81% of those whose present address is known. Only 16 (1%) children were reported to have serious visual defects; 5 had retrolental fibroplasia. For the children attending normal schools there was a significant excess of both mild and more severe visual defects compared with matched controls. A distant visual acuity of 6/6 was reported in the better eye of 89%, and in both eyes of 83% of the low birthweight group. [ABSTRACT FROM AUTHOR]

National trends in the survival of low birthweight infants for the years 1953 to 1979 were examined. While stillbirth and day 1-28 mortality rates improved steadily throughout this period, day 0 mortality did not start to fall until the mid-1960s and then it improved in all birthweight groups. This suggests that special and intensive baby care units introduced progressively since about 1961 are exerting an appreciable effect on mortality. There is a serious lack of representative data on rates of handicap in the survivors. [ABSTRACT FROM AUTHOR]

In 1986 The Office of Population Censuses and Surveys (OPCS) introduced new certificates for stillbirths and neonatal deaths. This allowed certifiers more flexibility in the completion of the certificate, and the number and ordering of the causes given. Tabulations have been published of the fetal and maternal causes of death mentioned on the certificates for every year from 1986 to 1991 in annual reference volumes. It has not been possible either to derive a single cause group for each death, however, or to compare the information available on neonatal deaths with that on postneonatal deaths, which are still derived from the standard death certificate. The aim of the work described here was to adapt previous classifications to derive a single cause grouping for stillbirths and infant deaths which would provide the maximum information about preventability and yet meet the national and international responsibilities of OPCS. The methods used and the tests carried out on the validity and consistency of the chosen classification are described. [ABSTRACT FROM AUTHOR]

It is estimated that the prevalence of nongenetic SMR associated with cerebral palsy has risen from 0.7 to about 0.9 per 1000 live births in the last decade. This is due to the predicted rise in total cerebral palsy prevalence to 2.5/1000 live births. This predicted prevalence of cerebral palsy is similar to that given for Western Australia in 1979-82, allowing for postnatal causes, but is higher than prevalence data from England and Sweden for that period. The estimated rise is due largely to improved survival and increased proportion of low birthweight babies since 1983 and also reflects the use of prevalence rates based on Mersey data. Improvements in prenatal diagnosis, and a parental choice of selective termination may lead to reductions in other causes of SMR, such as Down's syndrome and neural tube defects, so it seems that children both physically and mentally handicapped due to brain damage will contribute a greater proportion of the SMR population. The careload of these children is greater than that associated with many other causes of SMR and most survive into adult life. The implications for planning future services will need to be recognised. [ABSTRACT FROM AUTHOR]

Between 1983 and 1987 over 99% of all infants born in England and Wales had their birth weights recorded when the birth was registered. Trends in occurrence and one year survival of those who weighed under 1500 g at birth have been calculated in 100 g groups, separately for single and multiple births. By 1987 singleton live births in England and Wales who weighed between 700 and 799 g had a 43% chance of surviving to 1 year compared with a 32% chance five years earlier; those who weighed 800 to 899 g had a 55% chance compared with 46%. The absolute number of survivors weighing between 500 and 999 g at birth increased by nearly 50% between 1983 and 1987, and there was a 30% increase overall in survivors weighing less than 1500 g. [ABSTRACT FROM AUTHOR]

We have given an indication of the range of national data which are available on child health. Paediatricians are familiar with simple demographic, mortality, and morbidity statistics, and it is intended tht trends in these should be updated annually. There is, however, a wealth of data on the use of medical social, and financial services which will be reported in future. Professional interest may help to improve the collection and presentation of national data, and we hope that this series will do this as well as providing a source of data for those who do not otherwise have access to it. [ABSTRACT FROM AUTHOR]

The organisation, premises, and staffing of three child health clinics of different types in an inner city area have been studied and related to information on immunisation derived from their computerised child register and other returns, together with some simple estimates of cost. Differences were found between overall uptake of different antigens, consent rate, compliance after consent had been given, and the median age at immunisation for children allocated to each clinic. Thus consent to pertussis immunisation varied from 90% in one clinic to 69% in the other two. In the clinic with the high consent rate, however, only 66% of those whose parents had consented actually received all three doses compared with 82% and 85% in the other clinics. The median age of immunisation also showed pronounced differences between the clinics--314, 351, and 375 days, respectively, for the third dose of the triple course. There were differences in characteristics of the clientele served by each clinic and in staffing and facilities, which led to differences in costs, as well as contributing towards the variable patterns of uptake. We suggest that indicators such as these, largely available from the child health computer system, are used systematically to identify ways of improving uptake and increasing cost effectiveness. [ABSTRACT FROM AUTHOR]

A register of children born between 1970 and 1979 in the South East Thames Regional Health Authority, and diagnosed as having pre-, peri-, and postnatal cerebral palsy, was set up between 1978 and 1981. We report the 527 children born between 1970 and 1974 for whom ascertainment is virtually complete. The estimated prevalence was 2.2 per 1000, with 7.4% multiple births, and 58% boys. Birthweight distribution is as expected, with 35% weighing less than 2500 g at birth. Parental permission for release of detailed medical information was sought, and the clinicians responsible gave us data on the type of cerebral palsy; details of impairments, disabilities, and anticipated future prospects; and an opinion on the probable timing of the cause. There was a high incidence of orthopaedic defects which must represent a considerable use of resources, although the prevalence of hearing and vision defects suggested that some of these may be undetected. [ABSTRACT FROM AUTHOR]

A study of those survivors weighing 2000 g or less at birth born to residents of the South East Thames Regional Health Authority in 1970, '71, and '73 was carried out by abstracting data from health visitors' and school health records. Some postnatal information was available for 78% of the children. Prevalences of reported impairments in relation to birthweight were 20% in babies of 1500 g or less, 13% in the group weighing 1501 to 1750 g, and 11% for those of 1751 to 2000 g. Only half the impairments in the first group were likely to be seriously disabling, and only a fifth were of obvious prenatal origin. In the heaviest group, about 3% were likely to become severely disabled, but in over two fifths with impairment, this was likely to be of prenatal origin and therefore more difficult to prevent. This factor together with the larger number of survivors of birthweight 1751 to 2000 g than of 1500 g or less, indicate that an increase in impairments may be seen in the heavier group if their mortality continues to fall. [ABSTRACT FROM AUTHOR]