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Biomedical subjects

I Sehmi

Publications and source records attributed to I Sehmi.

10 recordsLinked to original sources
PubMed2001

Quality of written information used in Down syndrome screening.

A qualitative assessment was performed on 81 leaflets used in maternal serum Down syndrome screening from National Health Service (NHS) obstetric units and private screening services. Quality was assessed by factual content, presentation and reading ease and this was amalgamated into a single overall score expressed as a percentage of the maximum possible score. Eleven (14%) leaflets included all eight factual items recommended by the Royal College of Obstetricians and Gynaecologists (RCOG); only one included these and a further nine items recognised as important to the consumer. Three (4%) leaflets contained information that was incorrect and 17 (21%) that was misleading or inconsistent. Using published criteria six (7%) leaflets were well presented and ten (12%) were fairly easy to read. The average reading age was 13-14 years. The overall quality score showed that five leaflets had 80% or more of the total possible score. However a substantial number, 15 (19%), were totally unacceptable having scores of 40% or less. In general the quality of leaflets used in the UK is considered poor. A national peer-reviewed leaflet should be prepared which can be modified to suit local policy.

Down Syndrome↗
PubMed2001

Use of videotapes for viewing at home to inform choice in Down syndrome screening: a randomised controlled trial.

A randomised trial was carried out to assess the effect of a Down syndrome screening video on test uptake, knowledge and psychological stress. A total of 2000 women referred for antenatal care were allocated to two equal groups: one to be sent a video to their home, before their hospital booking visit, and a control group. All women also received screening information in the form of a leaflet before booking and from a midwife at booking. The video had no effect on the screening uptake rate: 638/993 (64.2%) and 652/1007 (64.7%) in the video and control groups, respectively. Women were requested to return the video for reuse in other pregnancies and 612 (62%) did so. A subset of 1200 women were selected to be posted at 17-19 weeks' gestation a self-completed questionnaire to assess the psychological endpoints. Knowledge of screening was increased in the video group with a mean score of 7.3 compared with 6.7 in the controls, a statistically significant difference (t=3.24, p=0.0005). There were no significant differences between the groups in specific worries about abnormalities in the baby, and general anxiety. We conclude that a video can increase knowledge without affecting the uptake of the test, or psychological stress.

Anxiety↗
PubMed2001

Descriptive information about Down syndrome: a content analysis of serum screening leaflets.

It is recommended practice that prior to prenatal screening, women receive information about the condition(s) being tested for. The present study critically evaluated information about Down syndrome as contained in 80 leaflets provided to pregnant women in the UK prior to serum screening. First, a content analysis by information type was conducted to give an overall picture of the material provided. Second, the image of the condition as conveyed by the content was analysed and compared with a similar study of cystic fibrosis (CF) screening leaflets. The majority of information (89%) was of a medico-clinical nature, with 11% addressing other issues associated with Down syndrome. The median number of sentences describing the condition was one, with 33% of the leaflets containing no descriptive information. Overall, a negative image of Down syndrome was conveyed by the leaflets, which contrasted with a more neutral image of CF in the comparison study. In order to facilitate informed choices, more attention should be paid to providing women with information about Down syndrome prior to serum screening. Such information needs to be more balanced in its construction, with thought given to the needs of the reader, and to the tone and the content of the message conveyed.

Cystic Fibrosis↗
PubMed2001

Familial Down syndrome: evidence supporting cytoplasmic inheritance.

The frequently observed familial aggregation of Down syndrome (DS) 47,+21 and other aneuploidies and the phenomenon of double aneuploidy involving DS cannot be accounted for by chance alone. To clarify possible aetiological factors, pedigrees from all 7 affected families with repeated marriages referred to two regional genetics centres were examined. In each case the recurrence of aneuploidy was on the mother's side (p<0.01). Such a pattern suggests cytoplasmic inheritance of a risk factor. The hypothesis that mitochondrial DNA mutations have a role in the aetiology of DS is supported by other observations as well as by theoretical considerations.

DNA, Mitochondrial↗
PubMed1999

Calculating correct Down's syndrome risks.

Women having both first trimester nuchal translucency and second trimester serum screening tests are likely to receive two different Down's syndrome risks. Neither will be correct, and we describe how to calculate a valid combined risk. This uses the reported serum-based risk and a likelihood ratio derived from the nuchal translucency report. Tables, figures and examples are provided to aid the calculation of the likelihood ratio from either the nuchal translucency in multiples of the normal median, the nuchal translucency and crown-rump length in millimetres, or the reported prior and nuchal translucency-based risks.

Biomarkers↗
PubMed1999

Maternal serum activin A and follistatin levels in pregnancies with Down syndrome.

Inhibin A is now an established second-trimester maternal serum marker of Down syndrome. Since activin A has a common beta-subunit to inhibin A we evaluated this substance and its binding protein, follistatin, as potential markers. We studied 30 affected and 199 unaffected pregnancies at 13-16 weeks' gestation. There was a statistically significant increase in activin A level among the cases with 8 (27 per cent) exceeding the 90th centile in the controls, and 6 (20 per cent) above the 95th centile. However, the extent of overlap was too great to be of value in screening. There was a small decrease in follistatin levels among cases but it did not reach statistical significance.

Activins↗
PubMed1998

Maternal serum inhibin A can predict pre-eclampsia.

OBJECTIVE: To compare median levels of maternal serum inhibin A in the second trimester blood samples of women who subsequently develop pre-eclampsia and those who do not. DESIGN: Retrospective analysis of 13 18 week samples from a bank of serum stored at -40 degrees C, originally taken for Down's syndrome screening. SETTING: Antenatal clinics in a teaching hospital. SAMPLE: Twenty-eight pregnancies with pre-eclampsia and 701 controls. Samples were taken, on average, 22 weeks before the diagnosis. MAIN OUTCOME MEASURE: Median inhibin A level. RESULTS: The median inhibin A level in the cases was 2.01 multiples of the gestation-specific median in the controls, a statistically significant elevation (P < 0.001). Twenty-three (82%) had levels above the normal median; 19 (68%), 15 (54%), and 11 (39%) exceeded the normal 75th, 90th and 95th centiles, respectively. CONCLUSIONS: In pre-eclampsia the maternal serum inhibin A level can be increased months before the onset of symptoms. This provides an opportunity to study the early natural history of the disease and possibly to conduct treatment trials.

Biomarkers↗
PubMed1996

Antenatal screening for cystic fibrosis.

OBJECTIVE: To assess the practicality of implementing antenatal screening for cystic fibrosis in Yorkshire. DESIGN: Prospective study in which all pregnant women were offered testing for the delta F508 mutation which accounts for about 85% of carriers in Yorkshire. The reproductive partners of those found to be cystic fibrosis carriers were then tested and any carrier referred for genetic counselling. SETTING: Antenatal clinics in two hospitals and eight general practices. POPULATION: Six thousand and seventy-one pregnant women. RESULTS: A total of 3773 women (62%) accepted the screening offer. This was a lower uptake rate than in other published UK studies: Aberdeen (85-91%), Manchester (85%), Edinburgh (76-84%) and Oxford (67%). Nonetheless there were large and statistically significant differences in the uptake rate between centres within the study: 78% and 60% for the two hospitals and 67% for the general practices. One hundred and thirty women (3.4%) were found to be carriers and three carrier couples were identified. The median time interval for the laboratory to produce a result was five days and the cost was pounds 16 on average. CONCLUSIONS: Antenatal screening for cystic fibrosis does not pose any special practical difficulties. It would be feasible to introduce it into routine practice in Yorkshire.

Attitude to Health↗