Couple Cystic Fibrosis Mouthwash Screening: Experience of an after-hours Drop in Clinic Service. Is it working?
Purpose: To review the outcome of Cystic Fibrosis (CF) mouthwash screening for couples who are planning a pregnancy or in early pregnancy.
Background: Hunter Genetics has offered an after hours drop in clinic service for 10 years. This clinic offers pre-pregnancy and pregnancy genetic counselling for couples wanting information on screening/prenatal options or have a specific genetic concern. A previous study of this service in 1998 found that couples were satisfied with the service and carrier/non-carrier couples did not report a significant change in anxiety during pregnancy.
Methods: Both partners were offered mouthwash testing for the Delta F508 mutation. If one individual was found to be heterozygouos, their partner was tested for an additional 28 CFTR mutations. All CF carriers identified were offered further counselling and family cascade testing. This data was obtained from an access database over a three year period. Information collected included reason for referral, referral source, family history, testing undertaken and results.
Results: 499 individuals were tested to determine their CF carrier status. The most common reason for testing was pregnancy (55%), a family history of CF (24%), pre-pregnancy planning (7.4%) and advanced maternal age counselling (6.4%). 13% of those tested were found to be CF carriers. When CF carrier individuals with a family history of CF were excluded, the carrier rate was found to be 5.8% or 1 in 17. 20 couples were identified where one partner was found to be a CF carrier. One heterozygous couple were identified but had a family history of CF. However, there were no heterozygous couples detected in those without a family history of CF.
Conclusions: We recommend that couple screening for CF be offered in routine antenatal care and in couples that are planning a pregnancy. Benefits include heterozygous couples knowing their risk and options, family cascade testing and non-carrier couples having a reduced risk than the general population.