We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.28 was reached at marker D3S3563, with alpha=.48, where alpha is the proportion of families showing linkage. Our data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.
Objective-To assess the delivery and acceptability of antenatal couple screening for cystic fibrosis. Carrier status was notified only when both members of a partnership had cystic fibrosis alleles and therefore a one in four risk ofhaving an affected child.Design-Mouthwash samples were tested when both partners participated. Results were returned only to positive couples.Setting-Two large maternity hospitals in Edinburgh.Subjects-Screening was offered to all couples who booked at one ofthe two hospitals.Main outcome measures-(a) The take up of screening, carriers and carrier couples identified, take up of prenatal diagnosis, and numbers of affected fetuses detected; (b) questionnaire measures ofpatient satisfaction and stress.Results-Screening was offered to 8536 couples.714 (8-4'V/o) were regarded as ineligible, usually because oflate booking or absence of a partner. 1900
An information leaflet, inviting participation in an antenatal screening trial for cystic fibrosis, was sent to 388 couples together with the pregnant woman's first clinic appointment. The leaflet pointed out that couples would be treated as a unit and that further action would be taken only if both partners were found to carry mutant alleles. Participants and non-participants were also asked to fill in a questionnaire eliciting their views on the leaflet. Three hundred and twelve (80%) questionnaires were returned and 253 (65%) couples elected to be screened. More than 90% of respondents found the leaflet easy to understand, although about 10% wanted more information on cystic fibrosis. The main reason for entering the trial was to avoid the birth of an affected child, and the main reason for non-entry was opposition to termination of pregnancy. There was little anxiety about the prospect of being screened. However, more than a third of couples mis-identified their risk of both carrying a CF gene, despite the figure of 1 in 600 being explicitly stated in the leaflet.
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