# Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots

**Authors:** Peter C. J. I. Schielen, Dianne Webster, J. Gerard Loeber, James R. Bonham

PMC · DOI: 10.3390/ijns11010013 · International Journal of Neonatal Screening · 2025-02-09

## TL;DR

This paper describes the creation of a standardized reference material for neonatal screening of three diseases using blood spots.

## Contribution

The paper introduces the seventh combined dried blood spot reference preparation for neonatal screening.

## Key findings

- The seventh reference preparation includes thyroid-stimulating hormone, phenylalanine, and 17α-hydroxyprogesterone.
- It supports standardization for neonatal screening of congenital hypothyroidism, phenylketonuria, and congenital adrenal hyperplasia.

## Abstract

The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism, phenylalanine (PHE) for phenylketonuria, and 17α-hydroxyprogesterone (17OHP) for congenital adrenal hyperplasia. These diseases are commonly a part of neonatal screening panels worldwide. The ISNS provides a series of secondary reference materials to the manufacturers of neonatal screening reagents to assist in the production of calibration materials for kits. This technical note describes the manufacture of the seventh combined dried blood spot reference preparation for neonatal screening (RPNS) for these analytes.

## Linked entities

- **Chemicals:** phenylalanine (PubChem CID 994), 17α-hydroxyprogesterone (PubChem CID 6238)
- **Diseases:** congenital hypothyroidism (MONDO:0018612), phenylketonuria (MONDO:0009861), congenital adrenal hyperplasia (MONDO:0015898)

## Full-text entities

- **Diseases:** phenylketonuria (MESH:D010661), congenital hypothyroidism (MESH:D003409), congenital adrenal hyperplasia (MESH:D000312)
- **Chemicals:** Thyroid Stimulating Hormone (MESH:D013972), 17OHP (MESH:D019326), PHE (MESH:D010649)

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC11843902/full.md

## References

2 references — full list in the complete paper: https://tomesphere.com/paper/PMC11843902/full.md

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Source: https://tomesphere.com/paper/PMC11843902