Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia

Fox, Danya A.; Ronsley, Rebecca; Khowaja, Asif Raza; Haim, Alon; Vallance, Hilary; Sinclair, Graham; Amed, Shazhan

doi:10.1016/j.jpeds.2019.12.057

Cited by 17 publications

(39 citation statements)

References 23 publications

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“…It is desirable to diagnose 21OHD neonates before developing adrenal crisis, because adrenal crisis is a life‐threatening emergency, requiring urgent intervention 5,10–13 . The treatment for adrenal crisis also decreases the cost efficacy of screening 14 . In addition, adrenal crisis followed by circulatory shock could affect neurological development in later life stages 1,12,13,15 .…”

Section: Introductionmentioning

confidence: 99%

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Gau

Konishi

Takasawa

et al. 2020

Clinical Endocrinology

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BackgroundOne of the major purposes of newborn screening for 21‐hydroxylase deficiency (21OHD) is preventing life‐threatening adrenal crisis. However, the details of adrenal crisis in newborns are not precisely documented.AimWe aimed to clarify the clinical details of salt‐wasting in newborn 21OHD patients.MethodsBased on the follow‐up survey of the screening in Tokyo from 1989 to 2017, we retrospectively analysed the conditions of classical 21OHD neonates before the initiation of therapy.ResultsOne hundred classical 21OHD patients (55 male, 45 female) were analysed. The age at the first hospital visit was 0–20 days with sex difference (male: 9.0 ± 3.5 days; female: 6.2 ± 3.9 days). Thirty‐seven (37.4%) patients exhibited severe salt‐wasting (SSW), that is, Na < 130 mEq/L, K > 7 mEq/L or Na/K ratio < 20; except for one case, SSW developed in or after the second week of life. The serum concentrations of Na, K and Na/K were linearly correlated with age in days (R2 = .38, .25, and .34 respectively), suggesting that the risk of SSW increases linearly without a threshold. The age at which the regression lines reached Na < 130 mEq/L, K > 7 mEq/L and Na/K < 20 was approximately coincided, 11.1, 12.3 and 11.2 days, respectively. All SSW patients exhibited decreased body weight from birth in their second week of life.ConclusionOur data revealed that the risk of developing SSW increases during the second week of life without a threshold, and for preventing SSW, early intervention, ideally during first week of life, is desirable. An increased body weight in the second week of life indicates the absence of SSW.

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Section: Introductionmentioning

confidence: 99%

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Gau

Konishi

Takasawa

et al. 2020

Clinical Endocrinology

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“…In a cohort study at British Columbia Children’s Hospital, the median age at diagnosis was 5 days (range, 0–30 days) and 6 days (range, 0–13 days) in unscreened and screened neonates, respectively. However, the cost of care was USD 33,770 per case in unscreened vs. USD 17,726 in screened newborns emphasizing the cost-effectiveness of CAH-NBS program [ 32 ]. A cost-benefit analysis is currently not available from India.…”

Section: Disease Burden In India and Need Of Nbsmentioning

confidence: 99%

CAH Newborn Screening in India: Challenges and Opportunities

Dabas

Bothra

Kapoor

2020

IJNS

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Congenital adrenal hyperplasia (CAH) is a common treatable disorder which is associated with life-threatening adrenal crisis, sexual ambiguity, and/or abnormal growth if undiagnosed. Newborn screening is a cost-effective tool to detect affected babies early after birth to optimize their treatment and follow-up. Newborn screening however is in its nascent stage in India where it is not yet introduced universally for all babies. The following review briefly highlights the challenges (e.g., lack of universal screening, healthcare resources) and opportunities (e.g., reduction in morbidity and early correct gender assignment in females) associated with newborn screening for CAH in a large Indian birth cohort.

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“…Newborns with untreated severe 21OHD, referred to as salt-wasting CAH (SW-CAH), develop progressive salt-wasting crisis during the first weeks of life, resulting in significant morbidity and mortality [2]. Newborn screening for SW-CAH provides the opportunity for early detection and treatment and has been implemented in the United States and more than 35 countries [3].…”

Section: Introductionmentioning

confidence: 99%

Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy

Held

Bird

Heather

2020

IJNS

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Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists.

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Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia

Cited by 17 publications

References 23 publications

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

CAH Newborn Screening in India: Challenges and Opportunities

Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy

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