10.5281/zenodo.6255553
https://zenodo.org/records/6255553
oai:zenodo.org:6255553
Caiulo Silvana
Caiulo Silvana
Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy
Corbetta Carlo
Corbetta Carlo
Regional Newborn Screening Laboratory of Lombardy Region, Children's Hospital V. Buzzi, Milan, Italy
Di Frenna Marianna
Di Frenna Marianna
Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy
Medda Emanuela
Medda Emanuela
Reference Center for Behavioral Sciences and Mental Health, National Institute of Health, Rome, Italy
De Angelis Simona
De Angelis Simona
Department of Cardiovascular and Endocrine-Metabolic Diseases, and Aging, National Institute of Health, Rome, Italy
Rotondi Daniela
Rotondi Daniela
Department of Cardiovascular and Endocrine-Metabolic Diseases, and Aging, National Institute of Health, Rome, Italy
Vincenzi Gaia
Vincenzi Gaia
Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy
Tiziana de Filippis
Tiziana de Filippis
Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Milan, Italy
Patricelli Maria Grazia
Patricelli Maria Grazia
Medical Genetics, Molecular Biology and Citogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy
Persani Luca
Persani Luca
Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Milan, Italy, Department of Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Barera Graziano
Barera Graziano
Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy
Weber Giovanna
Weber Giovanna
Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy, School of Medicine, Vita Salute San Raffaele University, Milan, Italy
Olivieri Antonella
Olivieri Antonella
Department of Cardiovascular and Endocrine-Metabolic Diseases, and Aging, National Institute of Health, Rome, Italy
Vigone Maria Cristina
Vigone Maria Cristina
Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy
Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program
Zenodo
2021
Keywords: TSH; congenital hypothyroidism; cutoff; newborn screening.
2021-01-01
eng
10.5281/zenodo.6255552
Abstract
Context: Analysis of a 2-screen program for congenital hypothyroidism (CH) was performed using differential dried-blood spot thyrotropin (bTSH) cutoffs of 10 mU/L at first screening (all infants) and 5 mU/L at second screening (selected infants).
Objectives: This work aimed to characterize CH infants identified by the second screening and compare infants with bTSH of 5.0 to 9.9 and 10 mU/L or greater on second screening.
Design and patients: Maternal and neonatal clinical features were retrospectively analyzed for 119 CH babies detected on the second screen in the Lombardy region of Italy, 2007 to 2014.
Results: Fifty-two (43.7%) of the 119 CH neonates showed bTSH values ranging from 5.0 to 9.9 mU/L at the second screening (low bTSH group) and 67 (56.3%) bTSH of 10.0 mU/L or greater (high bTSH group). The frequency of thyroid dysgenesis and eutopic gland was similar in both groups, as was the frequency of permanent and transient CH. Moreover, a high frequency of extrathyroidal malformations was found in both groups. The percentage of preterm infants (57.7% vs 23.9%, P < .001) and infants admitted to the neonatal intensive care unit (50.0% vs 17.9%, P < .001) was significantly higher in the low vs the high bTSH group. In addition, maternal treatment with glucocorticoids in pregnancy was significantly more frequent in the low bTSH group than in the high bTSH group (11.5% vs 1.5%, P = .042), as well as maternal hypothyroidism and/or goiter (26.9% vs 10.4%, P = .036).
Conclusions: This study has demonstrated that a lower TSH cutoff at the second screening can detect additional cases of CH and that a second bTSH cutoff of 5.0 mU/L is appropriate for identifying preterm newborns and babies with associated risk factors.