NBS11: Newborn Screening for Congenital Adrenal Hyperplasia, 1st Edition

CLSI requests nominations for volunteers to serve as members and contributors on a document development committee for a new document.

Description

CLSI document NBS11 will provide information on newborn screening (NBS) for congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. CAH is an autosomal recessive inherited disorder that can present with high mortality and morbidity in the newborn period, but early treatment has proven effective. The incidence of CAH is relatively high, similar to the incidence of phenylketonuria, and CAH is one of the disorders included in the US Recommended Uniform Screening Panel (RUSP). In order to be life saving for time-critical conditions, screening must be completed quickly, but most current screening paradigms have low positive predictive values. Optimal screening systems and protocols are essential to benefiting affected babies without causing unnecessary harm to unaffected babies. Analytical testing typically includes a 17-hydroxyprogesterone immunoassay as a first-tier screen with second-tier liquid chromatography–tandem mass spectrometry.

There are no globally accepted guidelines available that specify how NBS for CAH is best accomplished, describe pertinent information (eg, gestational age, sex, and birth weight) that should be documented together with the dried blood spot specimen collection, or present additional testing and follow-up recommendations. By providing best practice recommendations for CAH NBS, NBS11 will help standardize NBS and medical laboratory practices and promote their use worldwide. If standardized strategies are used, results obtained by different NBS programs around the world should be comparable. This guideline will also help new and developing NBS programs implement the best strategy from the beginning. Finally, NBS11 will also describe follow-up processes, because variations in follow-up activities may affect reported incidences of CAH.

This group is looking for volunteers with:

  • Expertise in all phases of the NBS process, with emphasis on CAH screening
  • Expertise in international NBS programs and processes
  • Expertise in health care professions (eg, pediatrics, genetic counseling, family practice, nursing) involved in newborn CAH screening follow-up processes
  • Expertise in evaluating the influence of preterm birth, newborn illness, and maternal steroid treatment on CAH NBS results
  • Expertise in instrumentation and reagents for newborn CAH screening
  • Experience in and knowledge of NBS regulatory aspects

Additional information on essential job duties and skills and abilities for CLSI committee participants can be viewed here.

Timeline for this project

27-28 January 2020: First face-to-face meeting (NOTE: This will be a 2-day meeting scheduled during the January Committees Week in Tempe, Arizona.)
January 2020 to January 2021: Drafting of document (higher-intensity volunteer time period) 
May 2021 to July 2021: Voting period for draft document
August 2021 to November 2021: Revision of draft based on comments received during voting
May 2022: Expected publication date

Due date for submission of required documentation

Please submit nominations and required documentation (see Requirements for Nomination Consideration) on or before 12 September 2019 to volunteer@clsi.org.