Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families

Abstract

This qualitative study explores the experiences of cystic fibrosis (CF) carrier couples, prospectively identified in CF families, and the impact of the resulting genetic risk on reproductive behavior. Of the 12 couples identified until 1997, seven couples participated in semistructured interviews and two couples filled in a questionnaire, two to eight years after receipt of the test-results. After receiving the results, most couples reported that they were shocked, because they did not expect to both be carriers. More anxiety was expressed by those who were pregnant (n = 4) at the time of testing. There were reported difficulties in disclosing the results to family members, and the reactions of family members were not always supportive. After testing, some couples had problems with reproductive decision-making. All viable pregnancies (17 in 8 couples) were monitored by prenatal diagnosis; all affected pregnancies were terminated (6 in 4 couples). Couples who have live-born children after testing may subsequently have concerns during infancy about the correctness of the results of prenatal diagnosis and how to inform their children. Most couples did not regret the testing and, in general, the counseling was experienced positively, although some dissatisfaction was reported with regard to the psychological support received during pregnancy. Couples supported the idea of carrier screening in the general population, although various concerns were expressed. The results indicate a preference for testing before pregnancy. These findings may be useful in investigating possible dilemmas caused by the introduction of population carrier screening. Observations reported here might also apply to other recessively inherited disorders.

Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and β-Thalassemia

“…Couples elected to terminate the pregnancy in 106 cases (95%) [64]. Smaller studies found similar results [65,66,67,68,69,70,71,72,73]. …”

Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening

“…Disclosure of risk to extended family members was not well communicated by the parents in our study but disclosure to the immediate family (parents, siblings) being more common. The difficulty with disclosure and underused cascade testing has been seen in other studies where parents felt they were under obligation to inform family 14–16 …”

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective

“…Impact on reproduction has been highlighted as a key issue when learning about one's carrier status in other studies focusing on single-gene disorders, [24][25][26][27] and therefore this result is not surprising. These observations emphasize the need for expert pre-test counseling before screening and add to concerns that implementing NIPD may erode informed choice.…”