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    The First-Year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-Hydroxylase Deficiency and a Higher Detection Rate of Non-Classical Cases
    (Galenos Publ House, 2025) Guran, Tulay; Yuruker, Elif; Anik, Ahmet; Atar, Muge; Camtosun, Emine; Eviz, Elif; Isakoca, Mehmet
    Objective: Neonatal screening for congenital adrenal hyperplasia (CAH) was implemented nationwide in T & uuml;rkiye in 2022. The performance of this screening program in its first year was assessed. Methods: This retrospective, descriptive study included neonates born in T & uuml;rkiye between January 1 and December 31, 2022, with gestational age >= 32 weeks and birth weight >= 1500 grams. The screening protocol used a two-tier approach. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) levels were measured using fluoroimmunoassay (FIA) in dried blood spots (DBS) collected at 3-5 days of life. Infants with positive results underwent second-tier testing using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-DF), cortisol (F), and 11-deoxycortisol (S) in DBS. Those with a steroid ratio (21-DF+17-OHP)/F >= 1 were referred to pediatric endocrinology clinics for diagnostic evaluation. Results: Of 1,096,069 neonates screened (including 149,652 refugees), second-tier tests were performed on 70,455 (6.88%) infants, and 3,429 (0.27%) were referred to clinics, resulting in 91 confirmed cases of classical 21-hydroxylase deficiency (21-OHD) CAH (77; salt-wasting, 14; simple virilizing). Twenty-two patients were diagnosed with non-classical 21-OHD CAH. The frequency of classical 21-OHD was 1 in 12,044. The first-tier FIA-17-OHP values were below 17.5 ng/mL in 99.8% of healthy neonates with >= 36 weeks gestation or >= 2500 grams and below 50 ng/mL in those with 32-36 weeks or 1500-2500 grams. Conclusion: Neonatal CAH screening facilitates early diagnosis of 21-OHD and improved patient care. Using refined cut-offs may reduce referrals six-fold and eliminate second-tier testing for 95% of infants. Ongoing evaluation can enhance the efficiency and costeffectiveness of the screening protocol.