2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Single Center Experience with the Massachusetts State Newborn Screening Pilot Program for Mucopolysaccharidosis Type I, Pompe Disease and X-Linked Adrenoleukodystrophy

Single Center Experience with the Massachusetts State Newborn Screening Pilot Program for Mucopolysaccharidosis Type I, Pompe Disease and X-Linked Adrenoleukodystrophy

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This document summarizes findings from the Massachusetts State Newborn Screening (NBS) pilot program for Mucopolysaccharidosis Type I (MPSI), Pompe disease, and X-Linked Adrenoleukodystrophy (X-ALD) at Boston Children's Hospital over a period of 4 years and 8 months. The NBS program aims to diagnose lysosomal disorders (LDs) in newborns and initiate early treatments for positive cases. However, the current screening strategy for LDs leads to a high false positive rate, which raises concerns about the potential negative psychosocial impacts on parents and families. It also puts a burden on a limited NBS diagnostic follow-up program. To improve false positive rates, other NBS programs use two-tiered screening strategies.<br /><br />During the study period, a total of 132 newborns were referred to Boston Children's Hospital for diagnostic follow-up for MPSI, Pompe disease, and X-ALD. Confirmatory testing included gene sequencing, enzyme activity assays, and biomarker measurements. Of these referrals, 9 infants were diagnosed with Late Onset Pompe Disease (LOPD), 1 infant with Infantile Onset Pompe Disease (IOPD), 9 infants with X-ALD, and 2 infants with Zellweger spectrum disorder. However, there were no infants diagnosed with MPSI among the referrals received.<br /><br />This study highlights the importance of newborn screening for early detection of LDs and the need for effective screening strategies that minimize false positive results. It also emphasizes the need for adequate resources to support the diagnostic follow-up of positive cases. Overall, the Massachusetts State NBS pilot program provides valuable insights into the implementation and outcomes of LD screening in newborns.

Asset Subtitle

Presenting Author - Christina C. Grassie, BS; Co-Author - Aishwarya Siddharth, MMSc, CGC; Co-Author - Emma Michl, MSN, RN, CPNP; Co-Author - Stephanie Sacharow, MD; Co-Author - Amy Kritzer, MD; Co-Author - Olaf A. Bodamer, MD, PhD, FACMG; Co-Author - Roy W. Peake, PhD; Co-Author - Patricia L. Hall, PhD; Co-Author - Dietrich Matern, MD, PhD, FACMG; Co-Author - Suzette M. Huguenin, PhD; Co-Author - Marzia Pasquali, PhD; Co-Author - Laura Pollard, PhD, FACMG; Submitter Only - Walla Al-Hertani, MD;

Meta Tag

Biochemical genetics

Genetic Testing

Lysosomal Diseases

Metabolic Disorder

Co-Author Aishwarya Siddharth, MMSc, CGC

Co-Author Emma Michl, MSN, RN, CPNP

Co-Author Stephanie Sacharow, MD

Co-Author Amy Kritzer, MD

Co-Author Olaf A. Bodamer, MD, PhD, FACMG

Co-Author Roy W. Peake, PhD

Co-Author Patricia L. Hall, PhD

Co-Author Dietrich Matern, MD, PhD, FACMG

Co-Author Suzette M. Huguenin, PhD

Co-Author Marzia Pasquali, PhD

Co-Author Laura Pollard, PhD, FACMG

Presenting Author Christina C. Grassie, BS

Submitter Only Walla Al-Hertani, MD

Keywords

Massachusetts State Newborn Screening

Mucopolysaccharidosis Type I

MPSI

Pompe disease

X-Linked Adrenoleukodystrophy

X-ALD

lysosomal disorders

LDs

false positive rate

two-tiered screening strategies