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Biomedical subjects

K M Laurence

Publications and source records attributed to K M Laurence.

At least 19 recordsLinked to original sources
PubMed1991

The impact of supportive intervention after second trimester termination of pregnancy for fetal abnormality.

The reactions of women who had had a termination of pregnancy for fetal abnormality in the second trimester have been studied retrospectively using a semi-structured questionnaire. The severity of the grief reaction was measured and the outcome at 6 months was compared with the findings from a previous study in South Wales which had led to the introduction of skilled support from genetic fieldworkers and formal genetic counselling after the termination. Of the 69 women interviewed, 55 (80 per cent) experienced an acute grief reaction and 17 (25 per cent) had not resolved their grief 6 months after the termination, compared with 37 (77 per cent) and 22 (46 per cent) out of 48 respectively in the previous study. Fifty-seven (83 per cent) women had found the fieldworker's intervention useful or very useful, some describing her support as essential. An association between poor resolution of the grief reaction with increasing maternal age and with poor perceived support from partners was noted. Improved follow-up support and counselling have lessened the adverse emotional consequences and support should therefore be offered to all women undergoing termination for fetal malformation.

Abortion, Therapeutic↗
PubMed1991

Heterogeneity of neural tube defects in Europe: the significance of site of defect and presence of other major anomalies in relation to geographic differences in prevalence.

In the period 1980-1987, neural tube defects were two to three times more prevalent in populations covered by EUROCAT registries in the United Kingdom and Ireland (UKI) than in Continental Europe and Malta (CEM). 1864 NTD cases in a total population of 580,000 births in UKI and 455 cases in a population of 380,000 births in CEM were analysed to find if there were differences in the ratio of prevalence rates between UKI and CEM according to site of the defect and association with non-central nervous system (CNS) anomalies. The prevalence rate ratio was high for anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida, and low for encephalocele, lower spina bifida, and anencephaly without other neural tube defects. There was a greater female excess for anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida than for other defects in both geographic areas. There was a female excess for encephalocele in UKI but a male excess in CEM. Certain sites (anencephaly with accompanying spina bifida, iniencephaly, and encephalocele) were more likely to have accompanying non-CNS anomalies. The prevalence rate ratio of multiply malformed NTD was in general lower than for isolated NTD but showed the same pattern by site. The prevalence rate ratio was high for multiply malformed anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida. The sex ratio was similar between isolated and multiply malformed cases when site of the defect is taken into account. It is concluded that the geographic prevalence pattern and sex ratio differ according to site of NTD but do not differ substantially according to whether NTD is isolated or associated with non-CNS anomalies.

Abnormalities, Multiple↗
PubMed1990

Maternal serum alpha-fetoprotein screening for open neural tube defects in twin pregnancies.

Data on maternal serum alpha-fetoprotein (AFP) levels at 13-24 weeks' gestation in 46 twin pregnancies with open neural tube defects (22 with anencephaly, 24 with open spina bifida) and 169 unaffected twins were used to estimate the detection and false-positive rates associated with different cut-off levels. Using the conventional cut-off level of 2.5 multiples of the median (MoM) for unaffected singleton pregnancies of the same gestation and laboratory, the detection rate in twins was 99 per cent for anencephaly and 89 per cent for open spina bifida, with a false-positive rate of 30 per cent. Using a 5.0 MoM cut-off level to maintain a similar false-positive rate to that found among singleton pregnancies at 16-18 weeks' gestation (about 3 per cent), the detection rate was 83 per cent for anencephaly and 39 per cent for open spina bifida. Estimates are provided of the odds of having an affected twin pregnancy given a positive AFP result as well as the odds for individual women with a raised AFP level.

Anencephaly↗
PubMed1990

Factors affecting employability among young adults with spina bifida and hydrocephalus.

A sample of 98 young adults with spina bifida were interviewed. None had severe learning difficulties. All were resident in S. Wales or the West of England. Only a third were in open competitive employment, mainly of a clerical nature. Their incomes fell well below average British earnings. Comparing those in work with the unemployed showed they differed significantly according to intelligence, academic qualifications, continence, behaviour, overall disability score and place of residence. The non-discriminating factors are listed and the implications of the findings discussed.

Adult↗
PubMed1989

Relationship between fetal adrenal morphology and anterior pituitary function.

A comparative study of adrenal morphology between normal fetuses and those with anencephaly or congenital adrenal hyperplasia (CAH) was performed in order to examine the hypothesis that fetal adrenal mass and structure are adrenocorticotrophin (ACTH)-dependent throughout gestation. Combined adrenal weight in 102 normal fetuses was used to establish a reference range for the gestational ages of 15-27 weeks. During this period, mean adrenal weight showed a 6-fold linear increase. In 38 anencephalic fetuses of similar gestation age, adrenal weight was below the normal range and did not show a rise. Three fetuses with CAH (18, 22 and 30 weeks gestation) had adrenal weights considerably above the normal range. Adrenal cortical thickness was significantly increased in CAH fetuses, largely as a consequence of cell hypertrophy, whereas decreased cortical thickness in the anencephalic group represented cellular hypoplasia. Conspicuous secretory granules in the cytoplasm was the electron-micrographic feature of the adrenal gland in the 22-week fetus with CAH. These observations are consistent with close dependency of fetal adrenal growth and development upon fetal pituitary function from an early age, mediated primarily through ACTH.

Adrenal Cortex↗
PubMed1988

Interstitial deletion of 17p11.2: case report and review.

A child with mental retardation and multiple congenital abnormalities, including brachycephaly, an unusual facies, brachydactyly, clinodactyly and bilateral talipes valgus, was found to have a small interstitial deletion of the short arm of chromosome 17. The clinical features and cytogenetic observations are compared with those in previously reported cases.

Abnormalities, Multiple↗
PubMed1985

The apparently declining prevalence of neural tube defect in two counties in South Wales over three decades illustrating the need for continuing action and vigilance.

Neural tube defects, anencephaly and spina bifida (including encephalocele) have been the major malformation problem in South Wales. Births of affected offspring of residents of Mid and South Glamorgan between 1956 and June 1985 were ascertained from various sources. To these were added terminations following prenatal diagnosis and affected spontaneous abortions of 16 weeks gestation or more since 1973. Variable fluctuation in prevalence occurred between 1956 and 1965. Since then there has been an accelerating decline in the birth prevalence of NTD but especially of anencephaly in both counties. When abortions and terminations are taken into consideration the decline until 1984, though still present, is much slower and is virtually non-existent now. The need for continuing NTD pregnancy screening and prenatal diagnosis followed by selective abortion is stressed. It is suggested that genetic counselling health education to improve maternal nutrition preconceptional counselling and population folic acid supplementation should be extended to prevent these defects.

Abortion, Therapeutic↗
PubMed1985

Should women at high risk of neural tube defect have an amniocentesis?

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.

Amniocentesis↗
PubMed1979

Antenatal diagnosis of congenital adrenal hyperplasia.

The concentration of 17-OH-progesterone (17-OHP) was measured retrospectively in a second-trimester amniotic-fluid sample obtained from a mother who had an infant with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The concentration was more than three times the mean amniotic-fluid-17OHP concentration determined in pregnancies of comparable gestational age with normal outcome. In four further pregnancies tested, where the parents were heterozygous for CAH, amniotic-fluid concentrations of 17-OHP were normal. To date, three of the mothers have delivered normal infants. CAH can be detected in early pregnancy by specific radioimmunoassay techniques for steroid-hormone analysis in amniotic fluid. This antenatal test could be useful in those cases in which parents do not wish to risk having affected offspring.

Adrenocortical Hyperfunction↗
PubMed1979

Precision in estimating gestational age and its influence on sensitivity of alphafetoprotein screening.

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.

Clinical Trials as Topic↗
PubMed1979

The biology of choroid plexus papilloma in infancy and childhood.

Choroid plexus papillomas account for only up to five per cent of the intracranial tumours occurring in childhood, the published cases representing only a minority of the scattered clinical experience. A review of 265 published cases, including seventeen personal examples, showed that the majority of the childhood tumours are in the lateral ventricles and behave clinically like cases of infancy-onset hydrocephalus, but are often somewhat bizarre and frequently show identifiable features due largely to the tumour being physiologically active. The fourth ventricular tumours behave clinically like most other posterior fossa tumours. Almost all of the tumours are benign; only a few are histologically or clinically malignant, and seeding only occurs in occasional cases. If the tumours are recognized for what they are and special precautions are taken to compensate for their physiological behaviour and abolish for the frequently accompanying basal cistern block, choroid plexus papillomas could be one of the most rewarding childhood tumours to treat surgically.

Adolescent↗
PubMed1979

The clinical and psychological characteristics of children with the "cocktail party" syndrome.

40% of a group of children with spina bifida were identified as having the "cocktail party" syndrome at the age of 5. In comparison to spina bifida cases with meaningful speech, children with this syndrome tended to have more severe multiple physical handicaps and to be of significantly lower intelligence. At the age of 7 there were significant differences between the two groups in school performance. Reassessment at 10 showed that almost half of the children no longer showed this syndrome, but those who retained this behaviour were grossly retarded. The aetiology of the condition is discussed.

Adolescent↗
PubMed1979

Prevention of neural tube malformation by genetic counselling, and prenatal diagnostic surveillance.

The aetiology and genetics of the spectrum of dysraphic neural tube malformations from anencephaly through encephalocele, myelocele and meningocele to complicated spina bifida occulta, is outlined. The risk of recurrence, the methods and problems of genetic counselling are discussed. All women known to be at risk for neural tube malformation should be counselled carefully and offered prenatal diagnostic surveillance for any future pregnancy. There is no longer any need for a couple able to accept termination, to go through with a pregnancy in fear of recurrence.

Amniotic Fluid↗