Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges

Pompe disease (PD) is screened by a two tier newborn screening algorithm, the first tier of which is an enzymatic assay performed on newborn dried blood spots. As first tier enzymatic screening tests have false positive results, an immediate second tier test on the same sample is critical in resolving newborn health status. The ultimate goal of second tier testing should enable the earliest possible diagnosis for the earliest initiation of the most effective clinical interventions in infants with PD.

In this review, we discuss the tNGS approach, as well as the challenges in providing second tier screening and follow-up care.

Authors: Laurie D. Smith, Matthew N. Bainbridge, Richard B. Parad, and Arindam Bhattacharjee

International Journal of Neonatal Screening. 20206(2), 32;

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