Biomedical subjects
Publications and source records attributed to E Alberman.
Certified causes of perinatal mortality have been regrouped into 14 categories of clinical significance. Using data from official publications, trends over the years 1968 to 1978 in England and Wales have been described. Sharp falls from certain years are observed for some categories whereas others show a sustained fall.
A survey of pregnancies occurring in 3502 women doctors provided an opportunity to examine the relationship between early fetal loss and birth weight. This was found to be complex. The most important observations were that the mean birth weight of babies preceding a spontaneous fetal loss was lower than that of livebirths preceding another livebirth, and that in the subgroup of women with repeated early losses, mean birth weight fell with increasing pregnancy order. In contrast, mean birth weight of the first livebirth following a single spontaneous abortion was higher, though not significantly, than that of livebirths in the first pregnancy.
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Mother-child relationships were investigated between: (a) 32 mothers and their singleton children with birthweights of 2000g or less who had been separated immediately after birth for a minimum period of 17 days (index families), and (b) 32 control mothers and their singleton children, matched with index cases for type of residence, sex and month of birth, but who had not been separated at birth and whose birthweights were 2700g or greater. From interview, validated by questionnaire and semantic differential scoring, six of the index mothers, but none of the control mothers were assessed as having rejected their children. Comparisons were made between rejected and non-rejected index children. Rejection occurred more commonly in the low-birthweight group if the mother had been a teenager at the birth of her first child or of the study child, especially if she had not planned or wanted the pregnancy. The mothers of rejected children tended to have had poor relations with their own fathers, were unhappy with their life-style, and perceived their children as having difficult or unlikeable personalities. The rejected children were more likely to have had poor health, severe temper tantrums, and to cause their mothers concern over their poor appetite.
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.
The prevalence of educational subnormality of a severe form (between 3 and 3.6 per thousand children of school age) and the prevalence of cerebral palsy (between 2 and 2.4 per thousand) have been fairly stable up to recent years. This stability has also applied to the relative proportions of the different major causes contributing to the handicaps. Where the ascertainment of such conditions is good, their prevalence monitored and the life expectancy of affected individuals estimated, any changes in prevalence can be used to measure the effectiveness of new forms of prevention, or alternatively to indicate the existence of new environmental hazards. Only a multi-pronged campaign against many of the recognized causes will have a substantial impact on prevalence.
An investigation of the reproductive history of 3068 women doctors showed that the risk of fetal loss at a given pregnancy order varied with their gravidity--that is, the total number of pregnancies that has occurred before the survey. Fetal loss rates in even the first pregnancy varied with eventual gravidity in a J-shaped manner. They fell from 12.4% in women with only one pregnancy at the time of the study, to 5.7% in women with two, and then increased steadily to 36.8% in those with six pregnancies. This variation in risk remained when allowance was made for the incomplete nature of some of the reproductive histories. When gravidity was held constant, fetal loss rates decreased with each successive pregnancy. This finding conflicts with previous suggestions that the risk of fetal loss increase with pregnancy order and age.
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All the special care baby units in three Thames health regions completed a one-day census on the number of infants in the unit, staffing, and facilities. The results were assessed in the light of the recommendations of an expert group set up by the Department of Health and Social Security. Although the provision of cots (6.1-6.9 per 1000 live births) was more generous than the estimated need and the occupancy rate (59--63%) lower than suggested, some units did not have adequate trained nursing cover at night, some did not have resident paediatricians, and some lacked essential equipment. Some small units, on the other hand, had very expensive equipment that was probably underused. Relating this provision to the regional statistics on babies needing special care showed that there was room for the rationalisation of facilities for their care. Factors that should be considered in planning such care include the size of the child-bearing population, the percentage of infants of low birth weights, and the proximity of specialist paediatric and maternity units and pathology facilities. It is also essential to monitor the effectiveness of the care by assessing the outcome in babies admitted to special units, especially those of low birth weight.
A survey has been made of the outcome of the pregnancies of 5700 women doctors first registered in England and Wales in 1950 or later. Conceptions that occurred when the mother was in an anaesthetic appointment resulted in smaller babies, higher stillbirth-rates, and more congenital malformations of the cardiovascular system than the pregnancies of other women doctors. There was no significant difference in the spontaneous-abortion rate between the two groups. A pronounced effect of age on this rate was evident among all groups examined.
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The effect is described of maternal factors on the proportion of fetal chromosomal anomalies in a series of 2620 spontaneous abortions, of which 992 specimens were karyotyped. Maternal age was the most important factor associated with a rise in the proportion abnormal, followed by Social Class I or II and the use of oral contraception before conception. The problem of extrapolating from the proportion abnormal to absolute incidence of anomalies is discussed. In the case of increasing maternal age, the evidence suggests that the rise in incidence of spontaneous abortions with age is accounted for by an increased incidence of chromosomally abnormal fetuses. In the case of high social class and a history of oral contraception, the evidence on incidence is scanty and the rise in the proportion abnormal may either reflect a decrease in the abortion rate of chromosomally normal fetuses, or a small increase in the incidence of lethal chromosomal anomalies.
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Information on the previous reproductive history of 3467 mothers presenting with a spontaneous abortion is compared with that of a control series presenting with a livebirth. In 1384 abortions the chromosome constitution of the fetal products was determined. The mothers who had delivered a chromosomally normal abortion more often had a history of previous repeated abortions, while those of chromosomally abnormal abortions tended to have fewer repeated abortions but an excess of previous viable children with Down's syndrome. Data are also presented on 23 mothers with two spontaneous abortions of known karyotype; these, together with similar data obtained elsewhere, made it possible to estimate an overall rate of recurrence of chromosome defects in conceptions of the same parents, and the probability that affected fetuses will survive to a viable stage in pregnancy. The clinical and genetic implications of the findings are briefly discussed.
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