APHL 2021 Poster Abstracts
Newborn Screening and Genetics
NEWBORN SCREENING AND GENETICS
Measurement of Polychlorinated Biphenyls and Persistent Pesticides in Dried Blood Spots
S . Du , S . O ’ Leary , J . Peterson , C . H . Yu and T . Fan , New Jersey Department of Health , Ewing , NJ
Evidences indicate the potential association between autism and persistent organic pollutants including polychlorinated biphenyls ( PCBs ) and persistent pesticides ( PPs ). The capability of testing and reporting the exposure to these chemicals at early life stage in conjunction with the ASD-associated biomarkers will promote early diagnosis and treatment . Newborn dried blood spots ( DBS ) are a valuable resource for the quantitative exposure assessment of chemicals at early stage . In collaborating with NJDOH Newborn Screening ( NBS ), we aim to develop a gas chromatographyhigh resolution mass spectrometry ( GC-HRMS ) method for the quantification of PCBs and OCPs in the archived newborn dried blood spots . In the preliminary study , we investigate the feasibility of DBS analysis for PCB and PPs by examining the background contamination , method recovery and precision . Three different lots of filter cards are tested along with the reagent blank , the results indicate that the background PCBs are mainly introduced through sample preparation instead of the blank filter , and only the level of tri- , tetra- and some of the penta-PCBs ranging from 0.2 pg / filter to 2.5 pg / filter are detected . DBS samples prepared by spiking 50 ul of PCB fortified bovine blood varying from 2 to 25 pg / filter were analyzed and method recovery and precision are assessed . Recovery of spiked native PCBs ranges from 55 % to 109 % in Level 2 ( 5pg / filter ), 56 % to 60 % in Level 3 ( 10pg / filter ) and 60 % to 69 % in Level 4 ( 25 pg / filter ). Relative standard deviation ( n = 4 ) ranges from 10 % to 28 % in Level 2 samples , but less than 15 % in Level 3 & 4 . The results confirmed the efficiency of our extraction procedure as well as good precision of the method . The future work includes the assessment of accuracy of DBS test by comparing the determined results from DBS with the regular blood test using both bovine and human blood .
Presenter : Songyan Du , New Jersey Department of Health , Songyan . du @ doh . nj . gov
Minnesota Early Hearing Detection and Intervention ( EHDI ) Follow-up , Best Practices and Response During COVID-19 Pandemic
J . Laine , A . Strong , M . Wege , K . Coverstone and R . Marino , Minnesota Public Health Laboratory
The COVID-19 pandemic came quickly and thrust everyone into an unprecedented situation , where decisions , adjustments to practice , and a swift response were paramount . The Minnesota EHDI Program was not exempt from the impact of COVID-19 . Some Minnesota families made the difficult decision to be discharged from the hospital early and delay their hearing screening . Additionally , several Minnesota hospitals adjusted their screening practices due to COVID-19 . This poster will reflect the immediate response of the Minnesota EHDI program specific to internal adjustments , external communications , and tracking of infants who missed or had delayed hearing screening or follow-up activities due to COVID-19 . We will review a small case study of four Minnesota hospitals that changed their hearing screening practices due to staffing changes . We will share about the Minnesota EHDI Program ’ s continued communication , collaboration , tracking , and follow-up support as the COVID-19 pandemic continues . Finally , we will share about lessons and insights gained through our COVID-19 response . We anticipate this information being helpful to other state EHDI programs adjusting their practices in response to COVID-19 and as a starting point for future discussions regarding responses to times of crisis .
Presenter : Jenna Laine , Minnesota Public Health Laboratory , jenna . laine @ state . mn . us
Addition of Genetic Testing to Newborn Screening Achieves Rapid and Accurate Discrimination of the Different Types of Sickle Cell Disease
L . Shook , D . Haygood and C . Quinn , Cincinnati Children ’ s Hospital Medical Center , Cincinnati , OH
Background : Hemoglobinopathies are the most common conditions detected by newborn screening ( NBS ). Hemoglobinopathies detected by NBS include sickle cell disease ( SCD ), sickle cell trait , thalassemia , other variants , and hereditary persistence of fetal hemoglobin ( HPFH ). Most NBS testing methods are proteinbased which are unable to resolve some variants and differentiate between sickle cell anemia ( Hb SS ) and compound heterozygosity for HbS and a HPFH deletion ( Hb S / HPFH ).
Objective : Describe a cohort of newborns with presumed diagnosis of Hb SS (“ FS ”), but actually had HbS / HPFH or other forms of SCD diagnosed by genetic testing .
Methodology : All newborns born from July 2015 – December 2020 in southwestern Ohio who had an “ FS ” pattern on NBS , indicating likely Hb SS , were followed . Given a suspected diagnosis of Hb SS , protein-based confirmatory testing and genetic testing were used to determine final diagnosis . Genetic testing included sequence analysis of the β-globin gene ( HBB ) and deletion / duplication analysis of the α-globin and β-globin gene clusters .
Results : There were 44 newborns with an initial “ FS ” pattern on NBS , indicating a presumed diagnosis of Hb SS . Genetic testing was not available for 1 . Of the remaining 43 babies , 37 ( 86 %) had a final diagnosis of Hb SS . The other 6 ( 14 %) had different SCD genotypes . Three ( 7 %) had Hb S / HPFH , 2 ( 5 %) had sickle-β + -thalassemia ( Hb Sβ +), and 1 ( 2 %) had sickle-β0-thalassemia ( Hb Sβ0 ). Supplemental α-globin analysis showed that 26 had a normal complement of α-globin genes (– α /– α ), 14 had 1-gene-deletion α-thalassemia ( αα /– α ), 2 had 2-gene-deletion α-thalassemia (– α /– α ), and 1 was heterozygous for an α-globin triplication ( αα / ααα ).
Discussion : In this cohort of newborns with suspected Hb SS , the final diagnosis was something other than Hb SS or Hb Sβ0 in 11.6 % ( 5 / 43 ). Distinction between Hb SS and Hb Sβ0 by NBS is not critical- both diseases are managed identically . In contrast , Hb Sβ + is a milder condition and Hb S / HPFH is often asymptomatic . While a diagnosis of Hb Sβ + should become clear with time , a diagnosis of Hb S / HPFH may take several years . In the past , this approach was reasonable given the limited and treatment options , but increasing use of , pre-symptomatic disease-modifying therapy ( e . g ., initiation of hydroxyurea by 6 months of age ) has made this diagnostic
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