Martella Maddalena, Viola Giampietro, Azzena Silvia, Schiavon Sara, Biondi Andrea, Basso Giuseppe, Corti Paola, Colombatti Raffaella, Masera Nicoletta, Sainati Laura
Dipartimento di Salute della Donna e del Bambino, Università di Padova, 35128 Padova, Italy.
Dipartimento di Pediatria, Università di Milano-Bicocca-Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy.
Int J Neonatal Screen. 2018 Dec 21;5(1):2. doi: 10.3390/ijns5010002. eCollection 2019 Mar.
A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of the β-globin gene () was the confirmatory test performed on the HPLC-positive or indeterminate samples. 5466 samples of newborns were evaluated. Of these, 5439/5466 were submitted to HPLC analysis and the molecular analysis always confirmed in all the alteration detected in HPLC (62/5439 newborns); 4/5439 (0.07%) were SCD affected, 37/5439 (0.68%) were HbAS carriers and 21/5439 (0.40%) showed other hemoglobinopathies. Stored dried blood spots were adequate for HPLC and β-globin gene molecular analysis. Samples were suitable for analysis until sixteen months old. A cut-off of A percentage, in order to avoid false negative or unnecessary confirmation tests, was identified. Our experience showed that several technical issues need to be addressed and resolved while developing a multicenter NBS program for SCD in a country where there is no national neonatal screening (NBS) program for SCD and NBS programs occur on a regional basis.
在意大利北部的两个中心（帕多瓦和蒙扎）开展了一项镰状细胞病（SCD）新生儿普遍筛查的多中心试点项目。对采集于滤纸片上的样本首先进行高效液相色谱（HPLC）检测，对HPLC检测呈阳性或结果不确定的样本进行β-珠蛋白基因的分子分析作为确诊检测。共评估了5466份新生儿样本。其中，5439/5466份样本进行了HPLC分析，分子分析总是能确认HPLC检测到的所有异常情况（5439名新生儿中有62例）；5439份样本中有4份（0.07%）为SCD患者，37份（0.68%）为HbAS携带者，21份（0.40%）表现出其他血红蛋白病。储存的干血斑足以用于HPLC和β-珠蛋白基因分子分析。样本在16个月大之前都适合进行分析。确定了一个A百分比的临界值，以避免假阴性或不必要的确诊检测。我们的经验表明，在一个没有全国性SCD新生儿筛查（NBS）项目且NBS项目按地区开展的国家，在制定SCD多中心NBS项目时需要解决和处理几个技术问题。
