ESPEYB17 8. Adrenals New Hope (3 abstracts)
8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia
Pode-Shakked N , Blau A , Pode-Shakked B , Tiosano D , Weintrob N , Eyal O , Zung A , Levy-Khademi F , Tenenbaum-Rakover Y , Zangen D , Gillis D , Pinhas-Hamiel O , Loewenthal N , de Vries L , Landau Z , Rachmiel M , Abu-Libdeh A , Eliakim A , Strich D , Koren I , German A , Sack J & Almashanu S
To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3172–3180. PMID: 30865229.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for CAH is limited by high false positive rates, especially in preterm and low-birth weight infants (1, 2). The aim of this study was to establish cut-off values adjusted for both gestational age (GA) and birth-weight (BW) to reduce false positive rates. The authors conducted a cross-sectional, population-based study that summarized 10 years of experience of the Israeli NBS program for CAH. Multi-tiered 17-OHP cut-off values were stratified according to both BW and GA.
Between the years of 2008 and 2017 a total of 1 387 132 newborns were included in the NBS program of Israel and 88 newborns were diagnosed with CAH; 84/88 by NBS. Blood sampling occurred at 36 to 72 hours after birth. 17OHP concentrations (nmol/l) were determined by time-resolved fluoro-immunoassay using the 112 AutoDELFIA neonatal 17OHP kit (PerkinElmer). The combined parameters-adjusted approach significantly reduced the recall false positive rate to 0.03% (425 false positive cases; recall sample found within normal NBS limits) and increased the positive predictive value to 16.5%. The sensitivity among those referred for immediate attention increased significantly (94%). There were four false negative cases (sensitivity, 95.4%), all ultimately diagnosed as simple-virilizing CAH. The sensitivity and specificity were 95.4% and 99.9%, respectively, and the percentage of true-positive cases from all newborns referred for evaluation following a positive NBS result was 96%. These results are similar to those by Gidlöf et al (3) in Sweden, where only GA was used to determine cut-off values. Therefore, the use of cut-off values of 17OHP concentrations based on a combination of GA and BW for newborn screening of classical CAH is safe and more efficient than either factor alone. This strategy lowers false positive rates and reduces the costs and emotional strain that accompany unnecessary recalls and referrals of false positive cases.
References:
1. White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol. 2009; 5(9): 490–498.
2. Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, LyonI C, Dobbins RH, Kling S, Fujieda K, Suwa S. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1988; 81(6): 866–874.
3. Gidlöf S, Wedell A, Guthenberg C, von Döbeln U, Nordenström A. Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study. JAMA Pediatr. 2014; 168(6): 567–574.
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ESPE Yearbook of Paediatric Endocrinology
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