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Newborn Screening

CLSI NBS11

Newborn Screening for Congenital Adrenal Hyperplasia

CLSI NBS11 provides recommendations for using dried blood spot specimens to perform newborn screening for congenital adrenal hyperplasia.

August 14, 2025
Natasha Heather, MD, FRACP; Phyllis W. Speiser, MD

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Abstract

CLSI NBS11—Newborn Screening for Congenital Adrenal Hyperplasia provides recommendations for using dried blood spot specimens to perform newborn screening (NBS) for congenital adrenal hyperplasia (CAH). CLSI NBS11 also discusses the preanalytical, analytical, and postanalytical aspects of CAH NBS, including short-term and long-term follow-up considerations.

Scope

CLSI NBS11 provides recommendations for using dried blood spot (DBS) specimens to perform newborn screening (NBS) for congenital adrenal hyperplasia (CAH) and discusses the preanalytical, analytical, and postanalytical aspects of CAH NBS, including short-term follow-up (STFU) and long-term follow-up (LTFU) considerations. CLSI NBS11 describes: 
• Etiology and clinical manifestations of CAH associated with elevated 17-hydroxyprogesterone (17-OHP), with a focus on classic CAH due to 21-hydroxylase deficiency as the primary focus of NBS 
• Nonclassic congenital adrenal hyperplasia (NCCAH) as a secondary target of CAH NBS 
• Analytical methodologies for 17-OHP measurement, steroid profiling, and genetic testing in DBS 
• Screening strategies and laboratory screening algorithms currently used and variations in approaches, along with the advantages and disadvantages of each strategy 
• Limitations of screening for CAH using analysis of 17-OHP as the first-tier test 
• Successful laboratory practices, including method validation and/or verification of analytical methods, QA, and results interpretation 
• Recommendations on implementing CAH NBS for emerging programs

The intended users of CLSI NBS11 are NBS laboratories; follow-up and program personnel; birthing facilities; public health program administrators; medical laboratories; pediatric endocrinologists; neonatologists; other health care providers (HCPs); regulatory agencies; public health policy makers; and manufacturers of instruments, reagents, and related NBS products. 

CLSI NBS11 does not cover: 
• Screening aspects for types of CAH other than 21-hydroxylase deficiency 
• Details of confirmatory diagnostic testing or treatment of CAH 
• Details of CAH carrier screening 
• Prenatal screening 
• Comparative cost information

Product Details
NBS11Ed1E
978-1-68440-294-6
112
Additional Details

This document is available in electronic format only.

Authors
Natasha Heather, MD, FRACP
Phyllis W. Speiser, MD
Norma P. Tavakoli, PhD
Mahesheema Ali, MSc, PhD, DABCC, NRCC, FALDM
Linda S. Carter, BS, MT(ASCP)
Colleen Clarke, BS, MHA
Luisa Fernanda Gonzalez, MD
Christopher Greene, MS, PhD
Tony Huynh, MBBS, PhD, CHIA, FRACP, FRCPA
Mimi Kim, MD, MSc
Dietrich Matern, MD, PhD, FACMG
Harikrishna Patel, BS, MS
Ernest M. Post, MD
Kyriakie Sarafoglou, MD
Jingzi Sherman, MD, MS
Abstract

CLSI NBS11—Newborn Screening for Congenital Adrenal Hyperplasia provides recommendations for using dried blood spot specimens to perform newborn screening (NBS) for congenital adrenal hyperplasia (CAH). CLSI NBS11 also discusses the preanalytical, analytical, and postanalytical aspects of CAH NBS, including short-term and long-term follow-up considerations.

Scope

CLSI NBS11 provides recommendations for using dried blood spot (DBS) specimens to perform newborn screening (NBS) for congenital adrenal hyperplasia (CAH) and discusses the preanalytical, analytical, and postanalytical aspects of CAH NBS, including short-term follow-up (STFU) and long-term follow-up (LTFU) considerations. CLSI NBS11 describes: 
• Etiology and clinical manifestations of CAH associated with elevated 17-hydroxyprogesterone (17-OHP), with a focus on classic CAH due to 21-hydroxylase deficiency as the primary focus of NBS 
• Nonclassic congenital adrenal hyperplasia (NCCAH) as a secondary target of CAH NBS 
• Analytical methodologies for 17-OHP measurement, steroid profiling, and genetic testing in DBS 
• Screening strategies and laboratory screening algorithms currently used and variations in approaches, along with the advantages and disadvantages of each strategy 
• Limitations of screening for CAH using analysis of 17-OHP as the first-tier test 
• Successful laboratory practices, including method validation and/or verification of analytical methods, QA, and results interpretation 
• Recommendations on implementing CAH NBS for emerging programs

The intended users of CLSI NBS11 are NBS laboratories; follow-up and program personnel; birthing facilities; public health program administrators; medical laboratories; pediatric endocrinologists; neonatologists; other health care providers (HCPs); regulatory agencies; public health policy makers; and manufacturers of instruments, reagents, and related NBS products. 

CLSI NBS11 does not cover: 
• Screening aspects for types of CAH other than 21-hydroxylase deficiency 
• Details of confirmatory diagnostic testing or treatment of CAH 
• Details of CAH carrier screening 
• Prenatal screening 
• Comparative cost information

Additional Details

This document is available in electronic format only.

Authors
Natasha Heather, MD, FRACP
Phyllis W. Speiser, MD
Norma P. Tavakoli, PhD
Mahesheema Ali, MSc, PhD, DABCC, NRCC, FALDM
Linda S. Carter, BS, MT(ASCP)
Colleen Clarke, BS, MHA
Luisa Fernanda Gonzalez, MD
Christopher Greene, MS, PhD
Tony Huynh, MBBS, PhD, CHIA, FRACP, FRCPA
Mimi Kim, MD, MSc
Dietrich Matern, MD, PhD, FACMG
Harikrishna Patel, BS, MS
Ernest M. Post, MD
Kyriakie Sarafoglou, MD
Jingzi Sherman, MD, MS