Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

• Autori principali: Mark R de Hora (Autore), Natasha L Heather (Autore), Tejal Patel (Autore), Lauren G Bresnahan (Autore), Dianne Webster (Autore), Paul L Hofman (Autore)
• Natura: Libro
• Pubblicazione: MDPI AG, 2020-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an additional solvent extract step to reduce the nu...