Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population.

The aim of this study was to assess the attitudes and intentions of individuals planning a pregnancy with regard to preconceptional cystic fibrosis (CF) carrier screening and to determine factors associated with a positive and negative/neutral intention to have the test. A survey, based on a questionnaire, was conducted among a stratified random sample of 303 recently married couples (606 individuals). Of the eligible individuals, 70% (n = 380) participated.

How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population.

Background: Since the identification of the cystic fibrosis (CF) gene, large-scale CF carrier screening has become possible. One possible target group is couples planning a pregnancy (preconceptional screening), providing a maximum number of reproductive options and a minimum of time constraints.

Objectives: To identify obstacles in the implementation of a preconceptional CF carrier screening programme, to find out how potential providers and the target population think the screening should be implemented, and to determine whether potential providers think they are able to provide the screening programme.

New KIT mutations in patients with piebaldism.

Background: Piebaldism is an autosomal dominantly inherited disorder characterized by congenital leukoderma, typically on the forehead, abdomen, and knees. The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism.

Current practice and future interest of GPs and prospective parents in pre-conception care in The Netherlands.

Background: Evidence for the effectiveness of pre-conception care is growing. GPs are among the possible providers of pre-conception care.

Objectives: Our first aim was to investigate current pre-conception care activities of GPs and to determine whether prospective parents would visit the GP in the existing health care system.

Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening.

To determine the attitudes of potential providers (general practitioners and Community Health Service workers) towards preconceptional cystic fibrosis (CF) carrier screening and to determine which factors are associated with a positive attitude. A survey was conducted among 200 general practitioners (GPs) and 134 Community Health Service (CHS) workers. Fifty-two percent of the eligible GPs participated and 84% of the CHS workers.

Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria.

Genetic screening programs should meet certain criteria before they can be introduced into the community. The aim of this study was to discuss pilot studies for cystic fibrosis (CF) carrier screening before and during pregnancy in the light of important genetic screening criteria. Overall, CF carrier screening meets the prerequisites that justify screening.

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Mutations in the XNP gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with facial dysmorphisms. In this report, we describe a missense mutation in exon 18 in a family with borderline to moderate MR. Like other disorders associated with an XNP mutation, skewed X-inactivation was found in all carrier females in this family.