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.

The electronic medical record: pros and cons.

The design of electronic medical record (EMR) software has a strong impact on user acceptance. To keep up with the growing complexity of activities performed today in Neonatal Intensive Care Units a well-designed EMR must provide an overall vision of all up-to-date information concerning the patient, both machine generated and clinical diagnostics, and be equipped with and computerized physician order entry (CPOE) system. The diffusion of new technological innovations in critical care environments can have unintended consequences, including changes in workflow, staff roles, and patient outcomes. We rely on the pros and cons of a 10-year successful implementation of an electronic medical record in a third level neonatal care unit, initially dedicated exclusively to neonatal intensive care, then extended to intermediate care and finally reaching the nursery.

Gestational age at preterm premature rupture of membranes: a risk factor for neonatal white matter damage.

OBJECTIVE: Gestational age at delivery and spontaneous prematurity are independent risk factors for white matter damage (WMD). However, among infants delivered spontaneously after preterm premature rupture of membranes (PPROM), latency of PPROM has been inconsistently correlated with risk of WMD. We have explored whether gestational age at membrane rupture is independently associated with WMD. STUDY DESIGN: Using a cohort of 196 liveborn singleton nonanomalous neonates born at 24.0 to 33.6 weeks from January 1993 to December 2002 after pPROM and who survived 7 days, we compared the characteristics of those who developed WMD (n = 15) with those who did not (n = 181) using Fisher exact test, Student t test, and logistic regression analysis, with a 2-tailed P < .05 or odds ratio (OR) with 95% CI not inclusive of the unity considered significant. RESULTS: Stepwise logistic regression analysis demonstrated that gestational age at PPROM (P < .001, OR 0.79) was significantly associated with WMD. The association was independent of corticosteroid administration (P = .016), latency interval (P = .69), gestational age at delivery (P = .99), and birth weight (P = .62). CONCLUSION: Among premature infants born at <34 weeks after pPROM, gestational age at diagnosis is independently associated with WMD.