1. Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants.
- Author
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Güran, Tülay, Tezel, Başak, Çakır, Meltem, Akıncı, Ayşehan, Orbak, Zerrin, Keskin, Mehmet, Eklioğlu, Beray Selver, Ozon, Alev, Özbek, Mehmet Nuri, Karagüzel, Gülay, Hatipoğlu, Nihal, Gürbüz, Fatih, Çizmecioğlu, Filiz Mine, Kara, Cengiz, Şimşek, Enver, Baş, Firdevs, Aydın, Murat, and Darendeliler, Feyza
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ADRENOGENITAL syndrome , *CLINICAL pathology , *GAS chromatography , *HYDROCORTISONE , *NEWBORN screening , *MASS spectrometry , *RESEARCH methodology , *OXIDOREDUCTASES , *PROGESTERONE , *REFERENCE values , *STEROIDS , *ANDROSTENEDIONE , *PILOT projects , *RETROSPECTIVE studies , *EARLY diagnosis , *FLUOROIMMUNOASSAY , *CHILDREN - Abstract
Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of =32 gestational weeks and =1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17a-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatographytandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+17-OHP)/F of =0.7 (increased from =0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11%) required second-tier testing and 880 (0.36%) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11ß-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11ß-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11ß-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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