Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action.

BACKGROUND: Sickle cell disease (SCD) is a chronic multisystem disorder requiring comprehensive care that includes newborn screening (NBS) as the first step of care. Italy still lacks a national SCD NBS program and policy on blood disorders. Pilot single-center screening programs and a regional targeted screening have been implemented so far, but more evidence is needed in order to impact health policies. POPULATION AND METHODS: NBS was offered to parents of newborns in gynecology clinics in Padova and Monza, tertiary care university hospitals in northern Italy. High-performance liquid chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards. Molecular analysis of the beta-globin gene was performed on positive samples. RESULTS: A total of 5466 newborns were enrolled; for 5439, informed consents were obtained. A similar family origin was seen in the two centers (65% Italians, 9% mixed couples, 26% immigrants). Compared with SCD NBS programs in the United States and Europe, our results show a similar incidence of SCD patients and carriers. All SCD patients had a Sub-Saharan family background; HbS carriers were 15% Caucasians (Italian, Albanians) and 10% from other areas (North Africa-India-South America); carriers of other hemoglobin variants were mainly (47%) from other areas. CONCLUSIONS: Our results demonstrate the feasibility of a multicentric NBS program for SCD, give information on HbS epidemiology in two Northern Italian Areas, and support previous European recommendation for a universal NBS program for SCD in Italy: a high incidence of patients and carriers has been detected, with a high percentage of Caucasian carriers, impossible to identify in a targeted NBS.

Effect of a short training on neonatal face-mask ventilation performance in a low resource setting.

BACKGROUND: We assessed whether a short training, effective in a high resource country, was able to improve the quality of face-mask ventilation (FMV) in a low resource setting. METHODS: Local healthcare providers at the Centre Médico-Social, Kouvè, Togo were asked to ventilate a neonatal leak-free manikin before (time-t1) and after (t2) a two-minute training session. Immediately after this section, a further two-minute training with participants aware of the data monitor was offered. Finally, a third 1-minute FMV round (t3) was performed by each participant. Ventilatory parameters were recorded using a computerized system. Primary outcome was the percentage of breaths with relevant mask leak (>25%). Secondary outcomes were percentages of breaths with a low peak inspiratory pressure (PIP<20 cm H2O), within the recommended PIP (20-35 cm H2O) and with a high PIP (>35 cm H2O). RESULTS: Twenty-six subjects participated in the study. The percentage of relevant mask leak significantly decreased (p<0.0001; ß = -0.76, SE = 0.10) from 89.7% (SD 21.5%) at t1 to 45.4% (SD 27.2%) at t2 and to 18.3% (SD 20.1%) at t3. The percentage of breaths within the recommended PIP significantly increased (p<0.0001; ß = +0.54, SE = 0.12). The percentage of breaths with PIP>35 cm H2O was 19.5% (SD 32.8%) at t1 and 39.2% (SD 37.7%) at t2 (padj = 0.27; ß = +0.61, SE = 0.36) and significantly decreased (padj = 0.01; ß = -1.61, SE = 0.55) to 6.0% (SD 15.4%) at t3. CONCLUSIONS: A 2-minute training on FMV, effective in a high resource country, had a positive effect also in a low resource setting. FMV performance further improved after an extra 2-minute verbal recall plus real time feedback. Although the training was extended, it still does not cost much time and effort. Further studies are needed to establish if these basic skills are transferred in real patients and if they are maintained over time.