A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns.

ABSTRACT:

Background

There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to investigate mothers newly diagnosed with IEM via positive NBS in their newborns using tandem mass spectrometry, and to clarify the disease frequency and severity.

Methods

This was a single-institution, population-based, retrospective study. The subjects were mothers whose newborns had false-positive NBS, among 80,410 newborns who underwent NBS between April 2016 and May 2021.

Result

there were 3 new mothers were diagnosed with IEM (2 with primary systemic carnitine deficiency (PC

SUBMITTER: Onuki T 

PROVIDER: S-EPMC10452974 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature