Evaluation of a Novel Newborn Screening Follow-up Program for Infants with Sickle Cell Disease

While newborn screening for sickle cell disease (SCD) has improved survival of affected infants through early prescription of prophylactic penicillin and SCD education for the parents, newborn screening follow-up programs are highly variable among states. The novel statewide newborn screening program in Indiana, Sickle SAFE (Screening, Assessment, Follow-up, Education), was started in 2009 and followed infants through the first year of life until 2013 when the program expanded to provide follow-up for the first 5 years of life. Sickle SAFE ensures timely notification and education of families of affected patients and links them to a hematologist. An initial home visit is scheduled and coordinated by the Sickle SAFE Program Coordinator within one month of receipt of abnormal screening results. After the initial home visit, coordinators maintain phone contact with families regularly throughout the enrollment period. An analysis of Georgia Medicaid claims published in 2016 reported that 47.2% of children between 2 and 3 years of age had screening transcranial Doppler (TCD) and 73.6% received PPSV23 (Pneumovax). The current study aims to assess the rates of attainment for recently published quality indicators of pediatric SCD care for children enrolled in Sickle SAFE.

A retrospective study was initiated to determine the proportion of children enrolled in Sickle SAFE who received TCD screening between 2 and 3 years of age (HbFS only) and influenza and pneumococcus [PCV (Prevnar) and PPSV23] vaccination. The mean age at confirmatory testing and receipt of penicillin prophylaxis (goal ≤ 2 months) as well as the mean age of the affected infant when families were offered genetic counseling (goal ≤ 6 months) were calculated. From 2009-2012, all positive newborn screens for any sickle hemoglobinopathy were reflexively sent for confirmatory DNA testing. From 2013 onward, only HbFS newborn screens were sent for confirmatory DNA testing. Children who were enrolled in Sickle SAFE less than two years of age were excluded from the PPSV23 and TCD analyses.

A total of 141 children were born with SCD and enrolled in Sickle SAFE for at least one year between July 1 2009 and June 30 2015. The majority (56.7%) had HbSS, 32.6% had HbSC, 9.9% were compound heterozygotes for HbS and beta thalassemia and the remaining 0.7% had another sickle hemoglobinopathy. The mean length of follow-up was 2.7 ± 1.0 years. 55.3% were female and 78.7% were African American. 87.2% were publicly insured. Mean age for all patients born with SCD to have confirmatory testing was significantly shorter when confirmatory DNA testing was sent for all affected infants compared to when it was limited to only infants with HbFS [40.3 ±14.1 days (2009-2012) vs. 127.8 ± 173.1 days (2013-2015), p= 1.5E-6]. While the age at confirmatory testing did not differ for infants with HbFS results between the two periods [45.9 ± 14.1 days (2009-2012) vs. 45.8 ± 14.0 days (2013-2015), p=0.98], infants with results other than HbFS were significantly older when confirmatory testing was performed after the process change in 2013 [40.3 ± 14.1 days (2009-2012) vs. 225.3 ± 221.4 days (2013-2015), p=2.6E-6]. Mean age at which genetic counseling was offered to all families with affected children was 26.8 ± 9.9 (range 9-60) days. Mean age at receipt of first dose of penicillin was 28.6 ± 15.0 (range 5-62) days for infants with HbFS, and 29.5 ± 20.1 (range 5-142) days for those with other sickle hemoglobinopathies (p=0.78). 86.5% of enrollees received at least one influenza vaccine while 95.0% had received at least one dose of PCV. Over two-thirds (69.1%) of children with HbFS had TCD screening between the ages of two and three years. 77.3% of Sickle SAFE enrollees who were followed for more than 2 years received PPSV23.

Newborn screening for SCD allows for supportive care aimed at reducing morbidity and mortality. Reflex DNA confirmatory testing is an important part of this quality care, regardless of sickle genotype, and our data shows that confirmatory testing is delayed when it is not reflexively performed for all affected infants. The intensive follow-up provided through the Sickle SAFE program increases adherence to quality standards for comprehensive care, as evidenced by a higher rate of TCD screening compared to published data. Education of state departments of health for improved funding and support of programs like Sickle SAFE may help to improve outcomes for affected children.