Sarles Jacques, Giorgi Roch, Berthézène Patrice, Munck Anne, Cheillan David, Dagorn Jean-Charles, Roussey Michel
AFDPHE, 75015 Paris, France; Aix-Marseille University, Hôpital d'Enfants de la Timone, 13005 Marseille, France.
INSERM, UMR912 "Economics and Social Sciences Applied to Health & Analysis of Medical Information" (SESSTIM), 13006 Marseille, France; Aix Marseille University, UMR_S912, IRD, 13006 Marseille, France.
J Cyst Fibros. 2014 Jul;13(4):384-90. doi: 10.1016/j.jcf.2014.01.004. Epub 2014 Feb 7.
French health authorities promoted a study on 553,167 newborns comparing the performances of IRT/DNA and IRT/PAP for CF newborn screening.
In parallel to IRT/DNA, PAP was assayed in newborns with IRT>50 μg/L. Provisional PAP cutoffs at 3.0 μg/L when 50<IRT<100 μg/L and 1.7 μg/L when IRT>100 were used. Positive newborns were subjected to sweat test. Optimal cutoffs were established by a non-inferiority method.
95 CF newborns were identified (83 classical forms (ClF), including 9 meconium ileus (MI), and 12 atypical (mild) forms (AF) Of them, IRT/DNA identified 85 (73 ClF including 5 MI and 12 AF). PAP cutoffs at 1.8 μg/L when 50< IRT<100 μg/L and 0.6 μg/L when IRT>100 μg/L would identify 82 CF: 77 ClF, including 8 MI, and 5 AF. The number of sweat tests was 314 and 1039 in the IRT/DNA and IRT/PAP strategies, respectively.
Using the optimal cutoffs, the sensitivity of the IRT/PAP strategy would not be inferior to that of IRT/DNA if identification of MF is not required.
法国卫生当局开展了一项针对553167名新生儿的研究，比较了免疫反应性胰蛋白酶检测（IRT）/DNA和IRT/胰蛋白酶原激活肽（PAP）用于囊性纤维化（CF）新生儿筛查的效果。
在进行IRT/DNA检测的同时，对IRT>50μg/L的新生儿进行PAP检测。当50<IRT<100μg/L时，临时PAP临界值设定为3.0μg/L；当IRT>100时，临界值设定为1.7μg/L。对检测呈阳性的新生儿进行汗液测试。通过非劣效性方法确定最佳临界值。
共识别出95例CF新生儿（83例典型型（ClF），包括9例胎粪性肠梗阻（MI），以及12例非典型（轻型）型（AF））。其中，IRT/DNA识别出85例（73例ClF，包括5例MI和12例AF）。当50<IRT<100μg/L时，PAP临界值为1.8μg/L；当IRT>100μg/L时，临界值为0.6μg/L，可识别出82例CF：77例ClF，包括8例MI和5例AF。IRT/DNA和IRT/PAP策略的汗液测试次数分别为314次和1039次。
如果不需要识别MI，使用最佳临界值时，IRT/PAP策略的敏感性不低于IRT/DNA。
