Universal Screening Program in Pregnant Women and Newborns at-Risk for Sickle Cell Disease: First Report from Northern Italy

Abstract

The implementation of screening programs for early detection of patients with sickle cell disease has become necessary in Italy as a result of the high rate of migration from areas with a high prevalence of the disease (Sub-Saharan Africa, Middle East and the Balkans). Following a pilot study performed in the province of Modena, Italy in 2011-2013, an official screening program was established on May 31 2014 for all pregnant women, free-of-charge for the family according to the National Guidelines for Physiological Pregnancy. Hemoglobin (Hb) profiles of pregnant women within 10 weeks of pregnancy, of new mothers at delivery and of the newborns of mothers with variant Hb profiles (newborns at-risk), were evaluated by high performance liquid chromatography (HPLC). Samples from 17,077 new mothers were analyzed and 993 showed alteration of Hb patterns (5.8%) (1.0% Hb AS carriers); of the 1011 at-risk newborns, four (0.4%) carried sickle cell disease and 90 (8.9%) were Hb AS carriers. These data show that early diagnosis of sickle cell disease or carrier status can be obtained in high-risk newborns, providing valuable information on the frequency of these conditions in geographic areas in which the disease is historically rare.

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

“…In Belgium, a regional screening programme has operated in Brussels and the surrounding areas since 1994 and in Liège and the surrounding areas since 2002 (Gulbis et al , ). Germany (Frommel et al , ; Lobitz et al , ; Grosse et al , ; Kunz et al , ), Ireland (Gibbons et al , ) and Italy (Ballardini et al , ; Rolla et al , ; Lodi et al , ; Martella et al , ), reported completed pilot studies. Some countries have reported a reduction in mortality and SCD‐related complications (Telfer et al , ; van der Plas et al , ; Le et al , ) and economic benefits for their health care systems (Okpala et al , ; Castilla‐Rodríguez et al , ; Streetly et al , ).…”

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

“…The other ongoing pilot projects in Italy are targeted (either in newborn or in pregnant women); therefore, it is difficult to draw comparison with them in terms of the incidence of affected newborns; only one previous universal NBS was conducted in Ferrara but with a limited number of newborns and no SCD affected newborn was detected…”

“…Despite the above‐mentioned advantages of an early diagnosis and the inclusion of NBS as the first step for comprehensive care in all international guidelines, including the Italian National guidelines, Italy still lacks a national SCD NBS program and a national policy on blood disorders, regardless of the recent increase in the number of SCD patients due to globalization and population movements . Pilot single‐center screening programs and even a regional targeted screening have been implemented so far, but more evidence is needed in order to impact national health policies. In fact, a National NBS Plan is in place in Italy since the 1990s, and it includes mainly metabolic disorders, but the National Health System is organized on a regional basis and every region can organize the NBS with certain independence.…”

HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype‐phenotype correlation

“…In recent decades, Italy faced an increasing number of people suffering from SCD, including HbS/β+ patients coming from Africa, Balkan, and Middle East, due to migratory fluxes more prevalent in the northern regions, thus changing the geography of this disease . Two other considerations are relevant to the Italian situation: (a) lack of a National Newborn Screening (NBS) Program for SCD—with the exception of few regional or local targeted programs—may lead to diagnostic delay that may turn into sudden clinical presentations and (b) the setting of medical care in Italy, which is based on a universal free health care for patients affected by a rare disease. Within this context, and in the absence of specific recommendations for HbS/β+ patients, physicians apply treatments and follow‐up schedules that are based on the individual patient's medical history, resulting in lack of a uniform management.…”

“…Age at diagnosis at first SCD-related event; x-axis: mutations: IVS-I-110, IVS-I-6, promotor mutations; y-axis: years [Colour figure can be viewed at wileyonlinelibrary.com] that led to diagnosis of SCD in two patients (one at 22 months of age in the IVS-I-110 group and the other at 10 years in the IVS-I-6 group) aswell as ACS in two other patients. There are currently few regional or local targeted NBS,24 and a universal pilot NBS was just concluded and is being re-planned 25. Therefore, except for patients living in the two areas of Italy where a NBS program is ongoing or where the universal pilot was conducted, diagnosis occurred following clinical events.…”