Cuckle H, Quirke P, Sehmi I, Lewis F, Murray J, Cross D, Cuckle P, Ozols B
Centre for Reproduction, Growth and Development, University of Leeds, UK.
Br J Obstet Gynaecol. 1996 Aug;103(8):795-9. doi: 10.1111/j.1471-0528.1996.tb09876.x.
To assess the practicality of implementing antenatal screening for cystic fibrosis in Yorkshire.
Prospective study in which all pregnant women were offered testing for the delta F508 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.
Antenatal clinics in two hospitals and eight general practices.
Six thousand and seventy-one pregnant women.
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 pounds 16 on average.
Antenatal screening for cystic fibrosis does not pose any special practical difficulties. It would be feasible to introduce it into routine practice in Yorkshire.
评估在约克郡开展囊性纤维化产前筛查的实用性。
前瞻性研究，为所有孕妇提供针对ΔF508突变的检测，该突变在约克郡约占携带者的85%。对检测出为囊性纤维化携带者的孕妇的生殖伴侣进行检测，并将任何携带者转介进行遗传咨询。
两家医院和八个全科诊所的产前门诊。
6071名孕妇。
共有3773名女性（62%）接受了筛查。这一接受率低于英国其他已发表研究中的接受率：阿伯丁（85 - 91%）、曼彻斯特（85%）、爱丁堡（76 - 84%）和牛津（67%）。尽管如此，研究中各中心之间的接受率仍存在巨大且具有统计学意义的差异：两家医院分别为78%和60%，全科诊所为67%。发现130名女性（3.4%）为携带者，并识别出3对携带者夫妇。实验室出具结果的中位时间间隔为5天，平均费用为16英镑。
囊性纤维化产前筛查不存在任何特殊的实际困难。将其引入约克郡的常规医疗实践是可行的。
