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Antenatal screening for cystic fibrosis
Author(s) -
Cuckle Howard,
Quirke Philip,
Sehmi Indera,
Lewis Fraser,
Murray Jennifer,
Cross Debra,
Cuckle Patricia,
Ozols Barbara
Publication year - 1996
Publication title -
bjog: an international journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.157
H-Index - 164
eISSN - 1471-0528
pISSN - 1470-0328
DOI - 10.1111/j.1471-0528.1996.tb09876.x
Subject(s) - cystic fibrosis , medicine , population , genetic counseling , pediatrics , newborn screening , obstetrics , pregnancy , family medicine , environmental health , genetics , biology
Objective To assess the practicality of implementing antenatal screening for cystic fibrosis in Yorkshire. Design Prospective study in which all pregnant women were offered testing for the AF508 mutation which accounts for about 85 % of carriers in Yorkshire. The reproductive partners of those found to be cystic fibrosis carriers were then tested and any carrier referred for genetic counselling. Setting Antenatal clinics in two hospitals and eight general practices. Population Six thousand and seventy‐one pregnant women. Results A total of 3773 women (62 %) accepted the screening offer. This was a lower uptake rate than in other published UK studies: Aberdeen (85–91%), Manchester (85%), Edinburgh (76–84%) and Oxford (67%). Nonetheless there were large and statistically significant differences in the uptake rate between centres within the study: 78% and 60% for the two hospitals and 67% for the general practices. One hundred and thirty women (3.4%) were found to be carriers and three carrier couples were identified. The median time interval for the laboratory to produce a result was five days and the cost was £16 on average. Conclusions Antenatal screening for cystic fibrosis does not pose any special practical difficulties. It would be feasible to introduce it into routine practice in Yorkshire.