Sweat chloride testing in infants identified as heterozygote carriers by newborn screening.
cross_sectional · Level IV
Where this comes from
- Record sourced from PubMed, PMID 19014821.
- Also identified by DOI 10.1016/j.jpeds.2008.07.054.
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Abstract
The reference ranges for sweat [C1(-)] were reevaluated in 300 infants referred to our Center as carriers of at least 1 cystic fibrosis mutation identified through newborn screening. The recommended borderline range of 30 to 59 mmol/L failed to identify all individuals who were compound heterozygotes. Our data support using a borderline range of 24 to 59 mmol/L.
Medical subject headings
- Carrier State
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genetic Carrier Screening
- Neonatal Screening
- Sweat