Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program

被引:12
作者
Caiulo, Silvana [1 ]
Corbetta, Carlo [2 ]
Di Frenna, Marianna [1 ]
Medda, Emanuela [3 ]
De Angelis, Simona [4 ]
Rotondi, Daniela [4 ]
Vincenzi, Gaia [1 ]
de Filippis, Tiziana [5 ]
Patricelli, Maria Grazia [6 ]
Persani, Luca [5 ,7 ]
Barera, Graziano [1 ]
Weber, Giovanna [1 ,8 ]
Olivieri, Antonella [4 ]
Vigone, Maria Cristina [1 ]
机构
[1] IRCCS San Raffaele Sci Inst, Dept Pediat, I-20132 Milan, Italy
[2] Childrens Hosp V Buzzi, Reg Newborn Screening Lab Lombardy Reg, I-20154 Milan, Italy
[3] Natl Inst Hlth, Reference Ctr Behav Sci & Mental Hlth, I-00161 Rome, Italy
[4] Natl Inst Hlth, Dept Cardiovasc & Endocrine Metab Dis & Aging, Viale Regina Elena 299, I-00161 Rome, Italy
[5] Ist Auxol Italiano, Lab Endocrine & Metab Res, I-20149 Milan, Italy
[6] IRCCS San Raffaele Sci Inst, Med Genet Mol Biol & Citogenet, I-20132 Milan, Italy
[7] Univ Milan, Dept Biotechnol & Translat Med, I-20133 Milan, Italy
[8] Univ Vita Salute San Raffaele, Sch Med, I-20132 Milan, Italy
关键词
congenital hypothyroidism; newborn screening; TSH; cutoff; THYROID-STIMULATING HORMONE; BIRTH-WEIGHT INFANTS; RISK-FACTORS; PREGNANCY OUTCOMES; NEW-YORK; THYROTROPIN; MALFORMATIONS; PREVALENCE; CALIFORNIA; SECRETION;
D O I
10.1210/clinem/dgaa789
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:E338 / E349
页数:12
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