The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease

Pino, Gisele; Studinski, April; White, Amy; Peck, Dawn; Minnich, Sara; Gadea, Randi; Strenk, Meghan E.; Gannon, Jennifer; Heese, Bryce A.; Font–Montgomery, Esperanza; Hamm, Austin; Dennis, Anna; Viall, Sarah; Gavrilov, Dimitar; Tortorelli, Silvia; Oglesbee, Devin; Rinaldo, Piero; Matern, Dietrich; Raymond, Kimiyo

doi:10.1016/s1096-7192(21)00115-3

Cited by 1 publication

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“…LGB3 as a biomarker for infants with abnormal newborn screens (Pino et al, 2021), we started to incorporate that test into our workflow in late 2020.…”

Section: History and Clinical Outcomes For Individuals With A143tmentioning

confidence: 99%

“…Relevant to the newborn screening population, Pino et al (2021) reported normal LGB3 levels and urine ceramide trihexosides (CT), respectively, in 16/16 and 18/19 children with the A143T variant, while the majority of infants with a non-A143T pathogenic variant had abnormal LGB3 and/or CT levels, with highest LGB3 levels in patients with classic alleles. Four male infants with A143T identified on Italy's newborn screening showed normal or very slightly increased levels of LGB3 through follow-up to 4.5 years of age, which the authors interpreted as supporting the likely benign classification of this variant (Gragnaniello et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

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Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance

Viall

Dennis

Yang

2022

American J of Med Genetics Pt C

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Fabry disease newborn screening (NBS) has been ongoing in Oregon for over 41 months by first-tier enzyme quantitation and second-tier DNA testing. During that period the majority of abnormal referrals received (34/60) were for the presence of the controversial c.427G > A (p.Ala143Thr) aka A143T and the majority of non-A143T referrals were for other variants of uncertain significance (17/60) resulting in at least 32 infants with an inconclusive case outcome even after clinical evaluation and/or diagnostic testing. To date there has been no significant family history or onset of symptoms in individuals with an inconclusive outcome. Based on our experience, we have developed a framework for approaching A143T and other variants of uncertain clinical significance in an attempt to balance sensitivity with the unnecessary medicalization of healthy infants.

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“…LGB3 as a biomarker for infants with abnormal newborn screens (Pino et al, 2021), we started to incorporate that test into our workflow in late 2020.…”

Section: History and Clinical Outcomes For Individuals With A143tmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%