Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France.
Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France; C.H.R.U. Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire, Brest, France.
J Cyst Fibros. 2016 Jul;15(4):452-9. doi: 10.1016/j.jcf.2016.02.013. Epub 2016 Mar 22.
Cascade carrier testing within cystic fibrosis (CF) affected families offers relatives of CF patients the opportunity to know their status regarding the mutation that segregates within their family, and thus to make informed reproductive choices. As an Australian study has recently shown that this test seemed underused, we searched to assess uptake of this test in a European area where CF is common, and to report its public health implications.
This study relied on 40 CF-affected families from western Brittany, France. Investigations included drawing of family trees and registration of carrier tests performed in those families.
Of the 459 relatives eligible for testing, 185 were tested, leading to an adjusted uptake rate of testing of 40.7% (95% CI: [34.1%; 47.3%]). The main predictors for having testing were being female (p=0.031) and having a high prior risk (p<0.001). Planning a pregnancy or expecting a child (reported in at least 38.4% of tested relatives) also appeared critical in choosing to be tested. Overall, carrier testing allowed to reassure more than 1/4 of the relatives and to detect five new 1-in-4 at-risk couples who then requested prenatal diagnosis.
This observational study assesses, for first time in Europe, uptake of CF cascade carrier testing within CF families, which is a critical tool to reassure non-carriers and to detect early new at-risk couples.
在囊性纤维化 (CF) 患者的家族中进行级联携带者检测，为 CF 患者的亲属提供了了解其家族中分离突变的状态的机会，从而可以做出明智的生殖选择。最近，澳大利亚的一项研究表明，这种检测方法似乎未被充分利用，因此我们进行了这项研究，旨在评估在 CF 常见的欧洲地区该检测的应用情况，并报告其公共卫生意义。
本研究依赖于来自法国布列塔尼西部的 40 个 CF 受累家庭。调查包括绘制家族树和登记在这些家庭中进行的携带者检测。
在 459 名符合检测条件的亲属中，有 185 人接受了检测，检测的调整后利用率为 40.7%（95%置信区间：[34.1%；47.3%]）。接受检测的主要预测因素是女性（p=0.031）和高先证风险（p<0.001）。计划怀孕或期待孩子（至少有 38.4%的接受检测的亲属报告）也似乎是选择接受检测的关键因素。总体而言，携带者检测使超过 1/4 的亲属得到了安心，并发现了五对新的 1/4 风险夫妇，他们随后要求进行产前诊断。
本观察性研究首次评估了 CF 家族中 CF 级联携带者检测的应用情况，这是一种重要的工具，可以使非携带者得到安心，并及早发现新的风险夫妇。
