Shock, adjust, decide: reproductive decision making in cystic fibrosis (CF) carrier couples--a qualitative study.

Cystic fibrosis (CF) is the most common recessive condition affecting the White British population. Facilitating reproductive decision making for couples at genetic risk for CF is an important aspect of genetic counseling practice in the UK. The purpose of this study was to explore the reproductive decision making process for 31 members of CF carrier couples (15 men and 16 women) with or without an affected child. The design involved a qualitative approach consisting of semi-structured interviews and data analysis informed by grounded theory methodology. Sex and personal experience of CF were identified as factors that may influence reproductive decision making. Findings suggest these hypotheses: (1) CF carrier couples who have an affected child/pregnancy, are more likely to embark on another pregnancy than couples who have a healthy child from an at-risk pregnancy, and (2) men and women play different roles in the reproductive decision making process. Data analysis resulted in development of a structured framework modeling the reproductive decision making process, which may be helpful in guiding genetic counseling with CF carrier couples and other at risk couples making reproductive decisions.

The value of a learner's stance: lessons learned from pregnant and parenting women.

OBJECTIVES: The voices, perspectives, and experiences of pregnant and parenting women are vital sources of information often overlooked or not understood by professionals. The goals of this qualitative study were to understand access to maternal and child health services from the perspectives of diverse consumers, and provide rich descriptions to inform strategies to enhance the quality of this access. It explored key dimensions influencing their experiences, including health status and needs, significant others, cultural beliefs, and provider and organizational factors. METHODS: The authors conducted 24 focus groups with 143 urban women, ages 14-45 who were primarily Medicaid consumers. Maternal and child health organizations providing primary or secondary services recruited African American, Caucasian, and Latina pregnant and parenting women. RESULTS: Five themes on access and quality of participants' maternal and child health experiences emerged: the primary role that personable and caring health providers and staff played in accessing services; provider recommendations were oftentimes discounted as irrelevant; alternative health practices were motivated by a genuine desire to help themselves or their children; agency practices and policies were sometimes perceived as potentially discriminatory; and unresolved feelings regarding pregnancy. CONCLUSIONS: These findings can assist providers to develop genuine relationships and address the unique cultural needs of their patients. Recommended actions include assuming a learner's stance as a way of developing an increased understanding of patients' underlying motives, perceptions of alternative health practices of their patients, and identifying the role and impact of their patient's social network.

Cascade carrier-testing in cystic fibrosis.

It is good medical practice to offer carrier tests and counselling to the relatives of those affected by recessive disorders. Many are concerned about their own chances of having affected offspring. Cystic fibrosis carrier tests have been feasible since the discovery of the gene in 1989. It was generally agreed that although population screening was not practical, testing should be offered to relatives and their partners. There is evidence that such offers have not always been made and relatives have sometimes found it difficult to be tested. An active cascade programme of the counselling and testing of cystic fibrosis patients' relatives and their partners has operated from Royal Manchester Children's Hospital since 1993. The service operates with dedicated staff, backed up by a specialist cystic fibrosis molecular genetics laboratory and a specialist genetic counselling service. The main target groups are couples or individuals of child-bearing age. There is discouragement of the testing of young children and of grandparents beyond reproductive age, although, if parents or individuals are insistent, testing is often performed, after counselling. An audit of users has shown satisfaction, very few feeling that they were pressured into having the tests. The experience of other centres with cascade-testing in cystic fibrosis is summarised. Cascades can start whenever a sufferer or carrier is identified, although care should be exercised in instituting active cascades in the extended families of newborns identified as carriers in neonatal screening programmes.

Blood pressure and the cystic fibrosis gene: evidence for lower pressure rises with age in female carriers.

Individuals homozygous for the autosomal recessive disorder CF are known to have low blood pressure, thought to be caused by greatly increased sweat salt loss. We examined whether carriers of the CF gene also have low blood pressure. Our pilot studies had suggested an effect limited to females, leading to 2 further studies in white females. In the first, blood pressure was measured in 232 known CF mutation carriers and compared with 246 mutation-negative control subjects. The carriers showed a significantly lower rate of increase in systolic blood pressure with age than the controls, especially after age 50 (3.5% per decade compared with 5.4% per decade, P=0.010). In a small substudy, sweat sodium and chloride levels were highest in those CF carriers with the lowest blood pressures. In the second study, CF carrier status was investigated in 563 normotensive females and in 607 women with essential hypertension diagnosed to test whether a lower incidence of carriers in the hypertensives suggested a protective effect. Twenty-five of the normotensives (4.4%) were carriers compared with 21 (3.5%) of the hypertensive group (P=0.45). Older CF carrier females had lower systolic and diastolic pressures than matched control subjects, with a tendency for blood pressure to increase less with age. This could result in significant reduction in stroke and heart disease. The effect on blood pressure is insufficient to prevent hypertension, though it remains conceivable that the severity might be ameliorated in carriers.