Sweat chloride testing in infants identified as heterozygote carriers by newborn screening.
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.
Soultan
Zafer N
ZN
Department of Pediatrics, Division of Pediatric Pulmonology, State University of New York, Upstate Medical University, Syracuse, NY, USA.
Foster
Mary M
MM
Newman
Nancy B
NB
Anbar
Ran D
RD
D002353:Carrier State / Q000175:diagnosis* / Q000378:metabolism; D002712:Chlorides / Q000378:metabolism*; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D012016:Reference Values; D013542:Sweat / Q000737:chemistry*
C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator