April - June 2019, Volume 15, Issue 2

Nanu M, Ardeleanu IS, Brezan F, Nanu I, Apostol A, Moldovanu F, Lazarescu H, Gheorghiu ML, Kozma A

Neonatal Screening for Congenital Hypothyroidism in Romania: Data From Medilog Medical Information Registry

Acta Endo (Buc) 2019, 15 (2): 209-214
doi: 10.4183/aeb.2019.209

Objective. Congenital hypothyroidism (CH) is one of the common preventable causes of intellectual disability in neonates, by early detection through neonatal screening. We present the 8-year experience of the National Institute for Mother and Child Health (INSMC) in using MEDILOG national registry for the neonatal screening of CH. Methods. Neonatal screening for CH, done by TSH measurement in dried blood spot, is organized in 5 regional centers, each with a reference laboratory. Results. In 2018 80% of all the newborns, from 80% of the maternity hospitals, were registered in MEDILOG. After re-testing of TSH and T4/FT4 from venous blood in positive cases, the incidence of confirmed CH in 2018 was 1/3576 - 1/ 4746. In INSMC center (which includes 26 counties and Bucharest, out of 41 counties), in 2018 the incidence of positive CH cases at screening was 1/2094 (TSH cut-off ≥17 mIU/L) and of confirmed CH cases 1/3576 newborns. For positive screening cases, the median duration from birth to the INSMC laboratory result was 19 days: median of 9 days between screening and laboratory registration and 6 days between registration and test result. Conclusion. MEDILOG registry is a practical instrument for monitoring the steps of neonatal CH screening, the incidence of CH, the evolution of the diagnosed cases, for evaluation of iodine deficiency (by neonatal TSH), and also for research, with the aim of improving early disease detection and treatment.

Keywords: congenital hypothyroidism, neonatal, screening, registry, MEDILOG

Correspondence: Monica Livia Gheorghiu MD, “C.I.Parhon” National Institute of Endocrinology, Bucharest, Romania, E-mail: monicagheorghiu@yahoo.com