Final results of the southwest German pilot study on cystic fibrosis newborn screening – Evaluation of an IRT/PAP protocol with IRT-dependent safety net

Agreement on the benefits of cystic fibrosis (CF) newborn screening (NBS) led to widespread implementation of CFNBS in many countries (e.g. [1]). In Germany, nationwide CFNBS was implemented on September 1st 2016 after a long decision process. Before that, it was uncertain for a long time whether and how genetic screening for CF could be used in Germany. In addition, there was great interest in a future CF screening algorithm that avoids detection of healthy carriers for CF and detects as few as possible of the newborns later designated as CFSPID (CF screening positive, inconclusive diagnosis).

Source: Journal of Cystic Fibrosis - November 8, 2021 Category: Respiratory Medicine Authors: Olaf Sommerburg, Mirjam Stahl, Susanne H ämmerling, Gwendolyn Gramer, Martina U. Muckenthaler, Jürgen Okun, Dirk Kohlmüller, Margit Happich, Andreas E. Kulozik, Marcus A. Mall, Georg F. Hoffmann Tags: Original Article Source Type: research