The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

Background. Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. In this paper, we present the data from the first 4 years of activity (2013-2016) following the introduction of performance criteria. Methods. The enrollment is voluntary, fee-based and open to both public and private Italian laboratories. The scheme is annual and retrospective; a national panel of experts assess technical, analytical and interpretative performance. Results. Overall, 95 distinct Italian laboratories participated in different Cytogenetics IEQA schemes over the 2013-2016 years and most of the laboratories took part in Constitutional diagnosis. General hospitals and local health centers represented 40% of the total participants and the percentage of laboratories from Northern Regions was more than 45% of total participants throughout the 4-year period. As regards the performance evaluation, on average, 11, 9 and 23% of participants were marked as poor performers in Prenatal, Postnatal and Oncohaematological schemes, respectively. With regard to critical errors, ISCN nomenclature in Prenatal and Postnatal schemes, and interpretation in Oncohaematological diagnosis, were identified as main issues. On the other hand, karyotype errors and inadequate analysis decreased strongly, over the 4 years, in Constitutional and Oncohaematological diagnosis, respectively. Conclusions. Our data show that the introduction of poor performance encourages laboratories to address critical issues, and the IEQA participation helps to improve quality in cytogenetic testing. 

Endemic cretinism in Sicily

This work reports the presence of endemic cretinism in a small district located inside an endemic goiter area in north-eastern Sicily, personally described. The study covers 19 mental defectives (11 females and 8 males, mean age 35.8 ± 15.5 yr) selected on the basis of severe mental retardation recognized by the local doctors. No systematic survey for cretinism was carried out in the total population. Marked mental retardation was evident in all subjects. Nine of them exhibited clinical and biochemical signs of hypothyroidism (myxedematous cretins). The 10 others were clinically euthyroid and had deaf-mutism and/or pyramidal tract dysfunction (neurological cretinism). Familial aggregation of cretinism was also observed. In both myxedematous and neurological cretins the urinary iodine excretion was very low, but not significantly different from that recorded in the euthyroid controls of the same area. The data available do not clarify the pathogenesis of endemic cretinism in Sicily. However, the marked height retardation, the observation of delayed bone maturation and the severity of mental deficiency suggest that thyroid failure was present in early life. The presence of endemic cretinism today in Sicily constitutes a strong argument in favour of the immediate introduction of adequate iodine prophylaxis. © 1981, Italian Society of Endocrinology (SIE). All rights reserved.SCOPUS: ar.jinfo:eu-repo/semantics/publishe