Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
作者： Monica H Wojcik , Tian Zhang , Ozge Ceyhan-Birsoy , Casie A Genetti , Matthew S Lebo
DOI: 10.1038/S41436-021-01146-5
关键词: False positive paradox 、 Pediatrics 、 Medicine 、 Newborn screening 、 Hearing screen 、 Population 、 Monogenic disease 、 Genetic diagnosis 、 Exome sequencing 、 Genomic sequencing
摘要: Purpose Newborn screening (NBS) is performed to identify neonates at risk for actionable, severe, early-onset disorders, many of which are genetic. The BabySeq Project randomized receive conventional NBS or plus exome sequencing (ES) capable detecting sequence variants that may also diagnose monogenic disease indicate genetic risk. We therefore evaluated how ES and results differ in this population. Methods compared (including hearing screens) 159 infants the Project. Infants were considered "NBS positive" if any abnormal result was found indicating "ES identified a diagnosis. Results Most (132/159, 84%) negative. Only one infant positive same disorder by both modalities. Nine positive/ES negative, though seven these subsequently determined be false positives. Fifteen positive/NBS all represented conditions not included programs. No explanation eight referred on screen. Conclusion These differences highlight complementarity information gleaned from newborn period.
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