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1.  Lung volumes, ventilatory capacity, and transfer factor in healthy British boy and girl twins 
Thorax  1973;28(6):709-715.
Cotes, J. E., Dabbs, J. M., Hall, A. M., Axford, A. T., and Laurence, K. M. (1973). Thorax, 28, 709-715. Lung volumes, ventilatory capacity, and transfer factor in healthy British boy and girl twins. Normal values are reported for the lung volumes, ventilatory capacity, and transfer factor of 212 healthy British twin children aged 8 to 16 years. The boys and the girls share a common relationship to height for the residual volume, peak expiratory flow rate, and Kco (transfer factor per litre of lung volume). For the inspiratory capacity and the transfer factor, also its membrane component (Dm), the values for the boys exceed those for the girls by, on average, 10%. This difference may be due, at least in part, to the boys taking more exercise.
PMCID: PMC470105  PMID: 4799148
3.  Sequelae and support after termination of pregnancy for fetal malformation. 
A retrospective study examined the reactions to the termination of pregnancy for fetal malformation and the follow up services that were available. Women resident in Mid Glamorgan who had had a termination between 1977 and 1981 because of positive findings after midtrimester prenatal diagnostic tests for neural tube defect or chromosome abnormalities were interviewed at home using a semistructured interview schedule. Three retrospective internal comparison groups were formed from those women who had also had a spontaneous abortion, previous stillbirth, or neonatal death or previous termination for medicosocial reasons early in pregnancy. Of the 48 women interviewed, 37 (77%) experienced an acute grief reaction after the index pregnancy was ended. This reaction was akin to that documented after stillbirth or neonatal death. Twenty two women (46%) remained symptomatic six months after the pregnancy had been ended, some requiring psychiatric support, compared with no such reaction after spontaneous abortion or termination for medicosocial reasons. All the women who had previously had a stillbirth or neonatal death were visited at home either by the general practitioner or by the midwife after that event but such follow up was limited to only eight of the study group after termination for fetal malformation. The findings suggest that support is inadequate for these patients and that improved follow up and counselling services may lessen the adverse sequelae of termination for fetal malformation.
PMCID: PMC1417671  PMID: 3919839
5.  Degree of physical handicap, education, and occupation of 51 adults with spina bifida. 
51 adults with spina bifida, aged between 18 and 56 years, resident in South Wales, were interviewed in their home. Although only four had obvious hydrocephalus, one-third of them were severely handicapped and a further 40% had moderate handicap. Over half of them had had their secondary education in a normal school, with the remainder having special schooling or home tuition. Seventy per cent of the series was in normal, full-time occupation, including half those severely handicapped. Those in work were largely in managerial/technical, clerical, and light manual occupations. It is concluded that extendance and training, followed by special job placement, would help to integrate them into the community. These patients show that, in the absence of mental retardation, even severe physical handicap is no bar to normal occupation and that paralysis and incontinence alone are probably not valid selection factors for or against 'aggressive' treatment for spina bifida.
PMCID: PMC478964  PMID: 788821
6.  An investigation of space and space-time clustering in a large sample of infants with neural tube defects born in Cardiff. 
Altogether 406 infants with neural tube defects born in Cardiff between 1956-71 were investigated for evidence of space-time clustering and 100 similarly affected infants, together with matched controls born in Cardiff between 1964-66 were investigated for evidence of spatial clustering. No evidence of excessive prevalence in either dimension was observed.
PMCID: PMC478915  PMID: 1104033
7.  Some sources of stress found in mothers of spina bifida children. 
The scores on a malaise inventory for 51 mothers of spina bifida children born between 1956 and 1962 in South Wales revealed significantly higher scores when the child was incontinent, had a severe locomotor disability, had an IQ less than 80, and was attending a special school rather than a normal school. No difference in scores was found between the sexes or for size of family, and only a slight difference occurred between the malaise scores of mothers of mildly and moderately handicapped children.
PMCID: PMC478883  PMID: 124188
8.  Prenatal detection of D trisomy 
Journal of Medical Genetics  1974;11(4):398-400.
The second instance of a prenatally diagnosed fetus of D trisomy is reported in a 45-year-old woman. The fetus had bilateral hare lip and cleft palate, arrhinencephaly, and numerous other malformations.
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PMCID: PMC1013217  PMID: 4443990
11.  Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis. 
Journal of Medical Genetics  1987;24(6):344-347.
The concentration of 170H-progesterone was measured in amniotic fluid samples collected from 55 mothers who had previously had a child with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In eight pregnancies the levels of 170H-progesterone were raised; the parents elected to terminate in four and examinations of the fetus confirmed the diagnosis of congenital adrenal hyperplasia. In each case, the affected sib was a salt loser. The remaining four affected pregnancies proceeded to term and each infant had salt losing 21-hydroxylase deficiency. All 47 infants predicted to be unaffected were normal at birth. However, an increased plasma concentration of 170H-progesterone was documented in a male non-salt loser at three months of age. Prenatal diagnosis of congenital adrenal hyperplasia by amniotic fluid steroid analysis is reliable only for the salt losing variant of 21-hydroxylase deficiency. Of the affected sibs in this study, 20% died during infancy in a salt losing crisis. This simple and rapid prenatal test is sufficiently reliable to predict the group of infants most at risk in early infancy.
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PMCID: PMC1050099  PMID: 3612706
12.  Should women at high risk of neural tube defect have an amniocentesis? 
Journal of Medical Genetics  1985;22(6):457-461.
As part of an investigation into the practical problems of a maternal serum alphafetoprotein (AFP) neural tube defect (NTD) screening programme carried out in Mid Glamorgan, South Wales, between 1977 and 1979, obstetricians were recommended to refer women with high risk pregnancies directly for counselling, high resolution ultrasonography, and amniocentesis without first carrying out serum screening. Out of 15 687 pregnant women one-third attended too late to be screened. A total of 637 was classed as high risk, mostly at greater risk than 1 in 50 because of a previously affected pregnancy or an affected close relative. Compliance with recommended procedure was relatively low as many were screened. There were 10 pregnancies with a recurrence of NTD, of which one was not tested at all, two were not detected (one closed meningocele and one closed iniencephalic), and seven were detected and the pregnancies terminated. All the latter, as well as the iniencephalic, would have been detected from a serum AFP determination and a high resolution ultrasound scan alone. It is concluded that these investigations are sufficient for high risk pregnancies and that amniocentesis is not really cost effective or necessary unless either of these investigations is abnormal. As numbers in this study were small it is suggested that these conclusions should be tested in a larger study.
PMCID: PMC1049506  PMID: 2416925
13.  Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. 
Journal of Medical Genetics  1985;22(5):386-389.
Three new cases of oculodentodigital (ODD) syndrome are reported. The clinical features are discussed and the development of the characteristic facial appearance is illustrated. Conductive deafness is reported in one of our cases and has been reported in six previous cases. It is suggested that it is a feature of the syndrome which is amenable to treatment.
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PMCID: PMC1049484  PMID: 3935793
14.  Can we afford screening for neural tube defects? The South Wales experience. 
Clinical and financial gains and losses accruing from five different options for screening for open neural tube defects were estimated, based principally on the results of detailed monitoring of inputs and outcomes and of process costs in the South Wales Anencephaly and Spina Bifida Study. As well as estimating the overall clinical costs of a screening service it was shown that if the prevalence, including terminations, of open neural tube defects is between 1.25 and five per 1000 births the financial cost of avoiding the birth of a seriously handicapped child who would survive for more than 24 hours is in the range 9000 pounds- 54000 pounds depending on the option adopted and the prevalence of the condition in the target population. Prevalence is the biggest determinant of cost. The data should provide a basis for assessment and discussion of resource priorities in the National Health Service.
PMCID: PMC1417540  PMID: 3917791
17.  Recurrence risk of neural tube defects. 
Journal of Medical Genetics  1981;18(4):322-323.
PMCID: PMC1048747  PMID: 7277431
19.  Double-blind randomised controlled trial of folate treatment before conception to prevent recurrence of neural-tube defects. 
A randomized controlled double-blind trial was undertaken in south Wales to prevent the recurrence of neural-tube defects in women who had had one child with a neural-tube defect. Sixty women were allocated before conception to take 4 mg of folic acid a day before and during early pregnancy and 44 complied with these instructions. Fifty-one women were allocated to placebo treatment. There were no recurrences among the compliant mothers but two among the non-compliers and four among the women in the placebo group. Thus there were no recurrences among those who received supplementation and six among those who did not; this difference is significant (p = 0.04). It is concluded that folic acid supplementation might be a cheap, safe, and effective method of primary prevention of neural-tube defects but that this must be confirmed in a large, multicentre trial.
PMCID: PMC1505459  PMID: 6786536
20.  Increased risk of recurrence of pregnancies complicated by fetal neural tube defects in mothers receiving poor diets, and possible benefit of dietary counselling. 
British Medical Journal  1980;281(6255):1592-1594.
One hundred and seventy-four women who had previously had a child with a neural-tube defect were assessed retrospectively on the quality of their diets during the first trimester of that pregnancy, between pregnancies, and during the first trimester of other pregnancies. They were then studied prospectively during the first trimester of 186 following pregnancies and the outcome of these was recorded. One hundred and three women (with 109 pregnancies) were given dietary counselling before the pregnancy, the remaining 71 (with 77 pregnancies) not being counselled. Seventy-eight (72%) of the counselled women improved their diet compared with only nine (12%) of the uncounselled women. The difference was significant (p < 0.001). There were three recurrences of neural-tube defects in the counselled women (3%) and five recurrences in the uncounselled (7%). Although this difference was not significant, the relative risk in the counselled group was reduced to less than half of that in the uncounselled group. All eight recurrences occurred in the 45 pregnancies in women taking poor diets (18%), whereas there were no recurrences in the 141 other pregnancies. This difference is significant (p < 0.001). It is concluded that women receiving adequate diets have a lower incidence and recurrence of fetal neural-tube defects than women receiving poor diets and that dietary counselling may be effective in reducing the incidence of fetal neural-tube defects.
PMCID: PMC1715083  PMID: 7448527
21.  Antenatal prediction of sex. 
British Medical Journal  1979;2(6197):1074.
PMCID: PMC1596787  PMID: 519293
22.  Precision in estimating gestational age and its influence on sensitivity of alphafetoprotein screening. 
British Medical Journal  1979;1(6169):981-983.
The interpretation of maternal serum alpha-fetoprotein (AFP) concentrations in relation to fetal neural tube defects depends on accurate assessment of the gestational age. In a quadruple-blind study three antenatal methods of assessment--namely, menstrual dates, clinical examination, and ultrasound scanning--were correlated with postnatal assessment using the Dubowitz scoring system. The best agreement to +/- 1 week was obtained using menstrual dates and ultrasound in combination, such agreement being found in 91 (77%) of the 118 women studied. Since serum AFP concentrations vary with gestational age, precise gestational dating is necessary. In many cases, particularly in women who are unsure of their dates or have irregular menstrual cycles, ultrasound examination is needed to supplement clinical findings.
PMCID: PMC1598638  PMID: 86376
25.  Spina bifida and anencephaly: are miscarriages a possible cause? 
British Medical Journal  1977;2(6083):361-362.
The marriage-to-conception interval in 151 pregnancies producing infants with anencephaly or spina bifida was not significantly different from that in 218 pregnancies resulting in normal infants. Significantly more miscarriages occurred before than after the birth of 285 infants with anencephaly or spina bifida, but in 133 controls no before-after difference was observed. These observations seem to favour the idea that miscarriages are a manifestation rather than a cause of anencephaly and spina bifida.
PMCID: PMC1631170  PMID: 329941

Results 1-25 (66)