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Newborn Screening for CAH-Challenges and Opportunities

Natasha L Heather1,2, Anna Nordenstrom3,4,5

  • 1National Newborn Metabolic Screening programme, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland 1023, New Zealand.

International Journal of Neonatal Screening
|March 6, 2021
PubMed

Insights

Newborn screening programs now identify congenital adrenal hyperplasia (CAH) using 17-hydroxyprogesterone (17-OHP) tests. Early detection through these tests is crucial for timely treatment and improved health outcomes in newborns.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Endocrinology

Background:

  • Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
  • Newborn screening (NBS) programs aim to detect genetic and metabolic disorders early.
  • 17-hydroxyprogesterone (17-OHP) is a key biomarker for diagnosing CAH.

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