Newborn Screening Samples for Diabetes Research: An Underused Resource

Area of Science:

• Biochemistry
• Genetics
• Neonatal Medicine

Background:

• Inborn errors of metabolism and diabetes share metabolic derangements detectable in newborn screening.
• Limited research exists on the metabolic effects of diabetes on newborn screening data.

Purpose of the Study:

• Demonstrate links between diabetes, biochemical genetics, and newborn screening.
• Investigate disease pathophysiology in diabetes.
• Identify reasons for limited research and suggest future research directions.

Main Methods:

• Systematic literature search (April 1998–December 2018) using OVID, MEDLINE, Cochrane, and PROSPERO.
• Screened 1312 records, including 8 studies in the final analysis.
• Utilized a modified Cochrane extraction tool.

Main Results:

• Five studies reanalyzed dried blood spots (DBS).
• Three studies used pre-existing newborn screening results.
• Discussed cord blood versus DBS and research considerations.

Conclusions:

• Newborn screening timing offers insights into neonatal physiology during a catabolic state.
• Minimal maternal and placental influence at sampling time is advantageous.
• Widespread newborn screening coverage can enhance understanding of diabetes origins.