Sickle cell trait newborn screen results: disclosure and management
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ORIGINAL ARTICLE
Sickle cell trait newborn screen results: disclosure and management Margaret Lilley 1 & Stephanie Hoang 1 & Pamela Blumenschein 1 & Ann-Marie Peturson 2 & Iveta Sosova 1 & Lauren Macneil 1 & Ross Ridsdale 1 & Susan Christian 1 Received: 3 September 2020 / Accepted: 19 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract This study aims to evaluate the notification process of sickle cell trait (SCT) identified by newborn screening in Alberta. On April 1, 2019, Alberta began newborn screening for sickle cell disease (SCD) and elected to report sickle cell trait (SCT). For 1 year, healthcare providers (HCPs) were sent a questionnaire which addressed the perceived importance of disclosing the SCT results, whether HCPs felt competent in disclosing the result, knowledge of available resources, and comfort with coordinating and interpreting testing for the newborn’s parents. As a control, we collected data from HCPs receiving positive cystic fibrosis (CF) newborn screen results. A total of 107 out of 203 SCT questionnaires were returned and 41 of 66 CF questionnaires were returned. Respondents felt it was important that the results be shared with families (98% and 100%, respectively). Most respondents felt competent (SCT: 95%; CF: 85%), and willing to disclose the result to the family (SCT: 92%; CF: 88%). Fewer respondents were comfortable interpreting the results (SCT: 70%; CF: 51%)), and willing to arrange parental testing (SCT: 61%; CF: 59%). Family practitioners were significantly more willing to arrange SCT parental testing (88%) compared to pediatricians (40%) (OR = 5.3; CI 1.9, 15.4; p < 0.001). HCP comments revealed two themes: referral to another HCP for followup and identification of the primary HCP. Results support this disclosure process, and HCPs felt comfortable following up with SCT newborn screen results. The study identified challenges such as pediatricians being less comfortable ordering parental testing and the ordering HCP not always being the primary care provider.
Introduction Newborn screening plays a critical role in the lives of infants. As of April 1, 2019, all newborns in Alberta, Canada, are offered screening for 21 treatable disorders, including sickle cell disease (SCD). SCD is a group of hereditary conditions caused by abnormalities of the beta-globin subunit of hemoglobin that leads to sickling of red blood cells when in the deoxygenated state. Sickle cell anemia (SCA), one of the SCDs, is an autosomal recessive disorder that occurs when an individual is homozygous for a specific variant of the beta-globin gene. Carriers of this allele have an abnormal biochemical profile that can be identified by newborn screening. These individuals are known as sickle cell trait (SCT) carriers
* Margaret Lilley [email protected] 1
Newborn Screening Laboratory, Alberta Precision Laboratories, 4B2.04 WMC, University of Alberta Hospital, 8440 112 St., Edmonton, Alberta T6G 2H7, Canada
2
University of Alberta, Edmonton, Alberta, Canad
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