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

• Main Authors: Mark R de Hora (Author), Natasha L Heather (Author), Tejal Patel (Author), Lauren G Bresnahan (Author), Dianne Webster (Author), Paul L Hofman (Author)
• Format: Book
• Published: MDPI AG, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...