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Newborn screening program for haemoglobinopathies in Haiti
S90
Abstracts
There are no widely accepted recommendations about breastfeeding premature infants born to CMV-seropositive mothers at this moment. To assess the risk of post-natal cytomegalovirus (CMV) transmission to extremely low birth weight (ELBW, birth weight <1000 g) infants fed with their mother's milk fresh for longer than one month. Prospective, observational study including all 63 ELBW infants– mothers admitted in our NICU from April 2005 to August 2010. Infants' urine and their own mother's fresh breast milk were tested for CMV culture once a week until discharge. Clinical course and laboratory findings of CMV infected infants were documented. Forty-one mothers (41/63, 65%) were CMV-seropositive at delivery and 34 of these breastfeeding their 34 infants for longer than 1 month. CMV virolactia was detected in 18/34 (53%) seropositive mothers, and 7/ 18 (39%) ELBW infants fed with CMV-positive milk was found infected during hospital stay. Three out of 7 (43%) ELBW infected infants had mild sepsis-like clinical manifestations (desaturation spells, bradycardia, increased oxygen requirement, abdominal distension, and poor skin perfusion): these symptoms recovered spontaneously in a short time. Three infants showed neutropenia (N<1100/mmc) that not require treatment with granulokine. All infected infants were <28 weeks gestational age (GA). All clinical infected infants were <26 weeks GA at birth. In our experience CMV infection via mother's fresh milk is mild, self-limiting even in ELBW infants. Thus feeding ELBW infants with their mother's fresh milk is a safe and beneficial option. doi:10.1016/j.earlhumdev.2010.12.023
Neonatal screening program for haemoglobinopathies in Friuli Venezia Giulia (North-east Italy): The first Italian experience L. De Zena, F. Zanollib, E. Testab, R. Catapanob, R. Dall'Amicoa a SOC Pediatria, Az Osp “S.M.d.Angeli” Pordenone, Italy b Serv. Immuno-trasf, Az Osp “S.M.d.Angeli” Pordenone, Italy Background: Haemoglobinopathies are the most frequent genetic disease worldwide, affecting over than 330,000 newborns/year (83% sickle cell disorders and 17% thalassaemias). Till some years ago subSaharan and east Asiatic area were typically the most affected but nowadays every country shows an increasing number of new diagnosis principally due to immigration. Also in Italy patients with sickle cell disease are now more frequent than thalassemic ones and dramatically increasing. In our region (Friuli Venezia Giulia, North-east Italy) people from haemoglobinopathies risk area represent about 16% of the population and 35% of the newborns originated from more than 50 different countries, greatly from sub-Saharan area. As WHO declared, it is a main object for sickle cell disease to early identify affected children as to institute adequate therapy (penicillin prophylaxis, vaccination, transcranial Doppler, and education of parents). So neonatal screening is mandatory, but till now there was no official program in our country. Objective: To standardize a neonatal screening program for hereditary haemoglobinopathy in our Italian Region. Methods: Every newborn with parents from haemoglobinopathies risk area undergo heel prick for capillary blood sample preserved as a dried blood spot on filter paper, at the same time of metabolic screening test (“Guthrie spot”). The presence of haemoglobinopathies was determined by a BioRad Variant II HPLC system. Results are given in 7 days. The diagnosis is confirmed by molecular analysis. The affected children are included in a follow-up program and a genetic consultant is offered to parents. Results: From November 2009 to October 2010, 849 newborns have been screened. Thirty-six (4.2%) displayed sickle cell trait, 2 were sickle cell disease (homozygous for HbS or HbS/β-thal) (0.2%), and 2 were heterozygous for both HbC and HbS (0.2%). The estimated prevalence of sickle hemoglobin was 5% and the incidence was 4.7%.
Conclusion: The increasing number of newborns coming from haemoglobinopathies risk area makes this disease an emerging clinical problem. This first year experience proves the importance for neonatal screening also in Italian region, particularly those with high number of African/Asian people. doi:10.1016/j.earlhumdev.2010.12.024
Newborn screening program for haemoglobinopathies in Haiti L. De Zena, F. Zanollib, G. Artyc, J.E. Aupongc, R. Catalanob, R. Dall'Amicoa a SOC Pediatria, Az Osp “S.M.d.Angeli” Pordenone, Italy b Serv. Immuno-trasf, Az Osp “S.M.d.Angeli” Pordenone, Italy c NPH Ped. St Damien Hospital, Port au Prince, Haiti Background: Data about sickle cell anemia in Haiti are very limited and often based on studies involving children of Haitian descent living in the States. From these reports, based on a little number of series, the prevalence of sickle cell trait (AS) in Haiti is estimated from 6.9% to 28%. Despite the high prevalence a neonatal screening program for haemoglobinopathies is not available in the country. Objective: Aim of the study is to start a screening program for hemoglobinopathies in Haiti and to estimate the prevalence of sickle hemoglobin in neonates. Methods: Newborns have ben enrolled starting from April 2010 in the Pediatric Hospital Saint Damien in Port au Prince (Haiti). Heel-prick specimens were collected on filter paper and sent to the Trasfusional Medicine Service in Pordenone Hospital — Italy. The presence of haemoglobinopathies was determined by a BioRad Variant II HPLC system. Results: 259 newborns have been screened till October 2010. Twenty-six (10%) displayed sickle cell trait, 4 (1.5%) were homozygous for haemoglobin S, 5 (2%) were heterozygous for HbC and 4 heterozygous for both HbC and HbS (1.5%). The estimated prevalence of sickle hemoglobin was 15.6, the incidence was 13.1%. Conclusion: The high prevalence of haemoglobinopathies reported in the study stress the importance for better diagnostic methods and intervention programs to improve patient outcomes. The neonatal screening programme has been sucessfully introduced in the Saint Damien Pediatric Hospital. The main challenge is represented by the establishment of the screening to a larger number of neonates and by the follow up of the patients. doi:10.1016/j.earlhumdev.2010.12.025
Can UNGAL detected at birth be a good predictor of a hemodynamically significant PDA? Silvia Galletti⁎, Anna Maria Malavolti, Giulia Aquilano, Silvia Vandini, Marica Spinelli, Giacomo Faldella Neonatal Intensive Care Unit St. Orsola-Malpighi General Hospital, University of Bologna, Italy ⁎Corresponding author. There is a lack of non-invasive parameters that reflect the consequences of a hemodynamically significant PDA. We aimed to investigate whether urinary neutrophil gelatinase-associated lipocalin (UNGAL) levels detected on the first day of life, may predict a hemodynamically significant patent ductus arteriosus (PDA) in very low birth weight infants (VLBW). A prospective study was performed on 31 VLBW with uncomplicated clinical courses within the first week of life.
Abstracts
There are no widely accepted recommendations about breastfeeding premature infants born to CMV-seropositive mothers at this moment. To assess the risk of post-natal cytomegalovirus (CMV) transmission to extremely low birth weight (ELBW, birth weight <1000 g) infants fed with their mother's milk fresh for longer than one month. Prospective, observational study including all 63 ELBW infants– mothers admitted in our NICU from April 2005 to August 2010. Infants' urine and their own mother's fresh breast milk were tested for CMV culture once a week until discharge. Clinical course and laboratory findings of CMV infected infants were documented. Forty-one mothers (41/63, 65%) were CMV-seropositive at delivery and 34 of these breastfeeding their 34 infants for longer than 1 month. CMV virolactia was detected in 18/34 (53%) seropositive mothers, and 7/ 18 (39%) ELBW infants fed with CMV-positive milk was found infected during hospital stay. Three out of 7 (43%) ELBW infected infants had mild sepsis-like clinical manifestations (desaturation spells, bradycardia, increased oxygen requirement, abdominal distension, and poor skin perfusion): these symptoms recovered spontaneously in a short time. Three infants showed neutropenia (N<1100/mmc) that not require treatment with granulokine. All infected infants were <28 weeks gestational age (GA). All clinical infected infants were <26 weeks GA at birth. In our experience CMV infection via mother's fresh milk is mild, self-limiting even in ELBW infants. Thus feeding ELBW infants with their mother's fresh milk is a safe and beneficial option. doi:10.1016/j.earlhumdev.2010.12.023
Neonatal screening program for haemoglobinopathies in Friuli Venezia Giulia (North-east Italy): The first Italian experience L. De Zena, F. Zanollib, E. Testab, R. Catapanob, R. Dall'Amicoa a SOC Pediatria, Az Osp “S.M.d.Angeli” Pordenone, Italy b Serv. Immuno-trasf, Az Osp “S.M.d.Angeli” Pordenone, Italy Background: Haemoglobinopathies are the most frequent genetic disease worldwide, affecting over than 330,000 newborns/year (83% sickle cell disorders and 17% thalassaemias). Till some years ago subSaharan and east Asiatic area were typically the most affected but nowadays every country shows an increasing number of new diagnosis principally due to immigration. Also in Italy patients with sickle cell disease are now more frequent than thalassemic ones and dramatically increasing. In our region (Friuli Venezia Giulia, North-east Italy) people from haemoglobinopathies risk area represent about 16% of the population and 35% of the newborns originated from more than 50 different countries, greatly from sub-Saharan area. As WHO declared, it is a main object for sickle cell disease to early identify affected children as to institute adequate therapy (penicillin prophylaxis, vaccination, transcranial Doppler, and education of parents). So neonatal screening is mandatory, but till now there was no official program in our country. Objective: To standardize a neonatal screening program for hereditary haemoglobinopathy in our Italian Region. Methods: Every newborn with parents from haemoglobinopathies risk area undergo heel prick for capillary blood sample preserved as a dried blood spot on filter paper, at the same time of metabolic screening test (“Guthrie spot”). The presence of haemoglobinopathies was determined by a BioRad Variant II HPLC system. Results are given in 7 days. The diagnosis is confirmed by molecular analysis. The affected children are included in a follow-up program and a genetic consultant is offered to parents. Results: From November 2009 to October 2010, 849 newborns have been screened. Thirty-six (4.2%) displayed sickle cell trait, 2 were sickle cell disease (homozygous for HbS or HbS/β-thal) (0.2%), and 2 were heterozygous for both HbC and HbS (0.2%). The estimated prevalence of sickle hemoglobin was 5% and the incidence was 4.7%.
Conclusion: The increasing number of newborns coming from haemoglobinopathies risk area makes this disease an emerging clinical problem. This first year experience proves the importance for neonatal screening also in Italian region, particularly those with high number of African/Asian people. doi:10.1016/j.earlhumdev.2010.12.024
Newborn screening program for haemoglobinopathies in Haiti L. De Zena, F. Zanollib, G. Artyc, J.E. Aupongc, R. Catalanob, R. Dall'Amicoa a SOC Pediatria, Az Osp “S.M.d.Angeli” Pordenone, Italy b Serv. Immuno-trasf, Az Osp “S.M.d.Angeli” Pordenone, Italy c NPH Ped. St Damien Hospital, Port au Prince, Haiti Background: Data about sickle cell anemia in Haiti are very limited and often based on studies involving children of Haitian descent living in the States. From these reports, based on a little number of series, the prevalence of sickle cell trait (AS) in Haiti is estimated from 6.9% to 28%. Despite the high prevalence a neonatal screening program for haemoglobinopathies is not available in the country. Objective: Aim of the study is to start a screening program for hemoglobinopathies in Haiti and to estimate the prevalence of sickle hemoglobin in neonates. Methods: Newborns have ben enrolled starting from April 2010 in the Pediatric Hospital Saint Damien in Port au Prince (Haiti). Heel-prick specimens were collected on filter paper and sent to the Trasfusional Medicine Service in Pordenone Hospital — Italy. The presence of haemoglobinopathies was determined by a BioRad Variant II HPLC system. Results: 259 newborns have been screened till October 2010. Twenty-six (10%) displayed sickle cell trait, 4 (1.5%) were homozygous for haemoglobin S, 5 (2%) were heterozygous for HbC and 4 heterozygous for both HbC and HbS (1.5%). The estimated prevalence of sickle hemoglobin was 15.6, the incidence was 13.1%. Conclusion: The high prevalence of haemoglobinopathies reported in the study stress the importance for better diagnostic methods and intervention programs to improve patient outcomes. The neonatal screening programme has been sucessfully introduced in the Saint Damien Pediatric Hospital. The main challenge is represented by the establishment of the screening to a larger number of neonates and by the follow up of the patients. doi:10.1016/j.earlhumdev.2010.12.025
Can UNGAL detected at birth be a good predictor of a hemodynamically significant PDA? Silvia Galletti⁎, Anna Maria Malavolti, Giulia Aquilano, Silvia Vandini, Marica Spinelli, Giacomo Faldella Neonatal Intensive Care Unit St. Orsola-Malpighi General Hospital, University of Bologna, Italy ⁎Corresponding author. There is a lack of non-invasive parameters that reflect the consequences of a hemodynamically significant PDA. We aimed to investigate whether urinary neutrophil gelatinase-associated lipocalin (UNGAL) levels detected on the first day of life, may predict a hemodynamically significant patent ductus arteriosus (PDA) in very low birth weight infants (VLBW). A prospective study was performed on 31 VLBW with uncomplicated clinical courses within the first week of life.