Carrier screening for cystic fibrosis in a prenatal setting.

Maternal prenatal cystic fibrosis (CF) screening was offered from September, 1997, to April, 1999, at the Ghent University Hospital, to couples undergoing prenatal diagnosis (amniocentesis) for reasons not related to CF. Fifteen minutes were devoted to explaining CF, CF screening, and the study protocol. The purpose was to assess the short- and long-term knowledge of CF, the attitude towards carrier screening, and carriership. A total of 314 couples entered the pilot study; 13 female CF carriers were identified. None of their partners carried an identifiable mutation. Our survey results show that information about CF and CF screening can be given effectively as part of antenatal care because most couples recalled important medical and genetic issues, valued the genetic test for CF, and seemed to cope well with the results. Risk estimates and actual numbers were more difficult to process and recall. From the small number of couples in which the woman alone was found to be a carrier, there was little or no evidence of marked distress.

Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study.

We conducted a pilot study to evaluate the psychological effects and consequences of Marfan syndrome in 17 patients between 16 and 35 years of age. Through a semi-structured interview, we investigated how the patients coped daily with Marfan syndrome and evaluated the impact of the disease on specific items such as schooling, occupational choices, self-image, and social behaviour. A second part of the study consisted of a battery of standardised psychological tests to evaluate the patients' anxiety and depression levels and coping styles. The following psychological tests were used: State and Trait Anxiety Inventory (STAI), Beck Depression Inventory (BDI), and the Utrecht Coping List (UCL). The interviews showed that the disease represented a significant burden on the daily physical activities of the patients, as well as on their schooling and job opportunities. During childhood, most of them were insensitively teased by peers because of their typical phenotypic features. This had its consequences on their social behaviour in that they are all more introvert. In the female patients, the risk associated with child bearing represented a major concern. Most patients emphasised the need for accurate information about the illness immediately after knowing the diagnosis and all found psychological support helpful. Depression and anxiety levels were higher in the female than in the male group, without being significantly different from the normal population. Nevertheless, most patients have come to terms with their disease and consider themselves happy most of the time.

Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT.

We describe a method for diagnosing dural ectasia (DE) and spinal canal widening (SCW) using CT. We examined 23 patients with Marfan's syndrome (MFS), 17 with Ehlers-Danlos syndrome (EDS) and 29 normal subjects, using six axial slices at the level of the L1-S1 pedicles. Transverse diameters of the vertebral bodies, spinal canal and dural sac were measured and indices were defined to differentiate patients with DE and SCW from normal. Statistical significance was assessed using Student's t -test, chi (2)-test and Pearson's correlation coefficient. DE and SCW occurred in 69.6 % and 60.9 % of cases of MFS and in 23.5 % and 35.3 % of EDS respectively. In MFS, prevalence was significantly higher than in the control group. DE was significantly more frequent in MFS than in EDS. A strong correlation existed between DE and SCW in MFS and the control group, but not in EDS. Our system enables quantitative assessment of SCW and DE. The latter is particularly important in subjects suspected of having MFS, in whom it is a common and characteristic sign.