scholarly journals Newborn Screening for Congenital Hypothyroidism in Japan

2021 ◽  
Vol 7 (3) ◽  
pp. 34
Author(s):  
Kanshi Minamitani

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.

2020 ◽  
Vol 26 (6) ◽  
pp. 585-594 ◽  
Author(s):  
Jing Chen ◽  
Shaowu Lin ◽  
Guozhang Zeng ◽  
Weixing Wang ◽  
Zhenqiu Lin ◽  
...  

Objective: Early diagnosis and treatment of children with congenital hypothyroidism (CH) through newborn screening can effectively prevent delayed development. This study was designed to investigate the pathogenesis and factors that influence CH in urban areas of China between 2009 and 2018. Methods: A retrospective analysis of newborn screening data and diagnosis and treatment information for CH diagnosed in the information database of the neonatal disease screening center in one of China's five special economic zones from 2009 to 2018. Results: Of the 947,258 newborns screened between 2009 and 2018, 829 (406 girls) were diagnosed with CH at birth (1 diagnosis/1,136 births). Among the 608 cases of CH diagnosed at birth and re-evaluated at the age of 3 years, 487 were permanent congenital hypothyroidism (PCH, 1/1,429), and 121 were transient congenital hypothyroidism (TCH, 1/5,882). A total of 83.2% of infants with PCH (405/487) underwent thyroid imaging in the neonatal period, of which thyroid dysgenesis accounted for 28.64% (116/405) and functional defects accounted for 71.36% (289/405). The incidence of CH changed significantly in infants with initial serum thyroid-stimulating hormone concentrations of 41 to 100 mIU/L and ≥100 mIU/L, whereas the incidence of mild CH showed a slight increase. The incidence of CH was significantly higher in postterm infants (1/63) and low-birth-weight infants (1/370). Conclusion: In the past decade, the incidence of CH has increased, mainly due to the increase in the incidence of PCH and TCH. The incidence of mild CH has increased slightly. Postterm birth and low birth weight are important factors affecting the incidence of CH. Abbreviations: CH = congenital hypothyroidism; FT4 = free thyroxine; L-T4 = levothyroxine sodium; PCH = permanent congenital hypothyroidism; TCH = transient congenital hypothyroidism; TSH = thyroid-stimulating hormone; TT4 = total thyroxine


2005 ◽  
Vol 12 (4) ◽  
pp. 166-169 ◽  
Author(s):  
Dorota Tylek-Lemańska ◽  
Małgorzata Kumorowicz-Kopiec ◽  
Jerzy Starzyk

Objectives: Thyroid-stimulating hormone (TSH), normally a reliable screening test for congenital hypothyroidism (CH), may fail to detect cases among infants who have low and very low birth weight. The purpose of this study was to identify neonates with false-negative screening results. Setting: A province in Poland in which 3854 neonates had body weight ≤2500 g, between 1999 and 2001. Methods: TSH levels in blood on filter paper were measured in all neonates between the third and sixth days after birth, but were repeated in low and very low birth weight infants after four weeks of age. Results: The repeat test showed TSH levels ≥ 10 mIU/L in 19 of the 3854 low birth weight neonates. The final diagnosis in these neonates was permanent CH in two, transient CH in five, possible compensated CH in six and transient high TSH in six. Of the 19, 16 (84%) required iodine and/or thyroxine replacement therapy. Conclusions: In neonates with low and very low birth weight, normal TSH levels measured between the third and sixth day of life do not exclude thyroid dysfunction, but a repeat TSH measurement after the fourth week of life identifies the false-negative results. In our data, the prevalence of primary and secondary hypothyroidism (both permanent and transient) was about 0.5%.


1985 ◽  
Vol 110 (1) ◽  
pp. 56-60 ◽  
Author(s):  
Takeki Hirano ◽  
Jaideep Singh ◽  
Gopal Srinivasan ◽  
Rosita Pildes

Abstract. Because the concentrations of serum free thyroxine (FT4) and thyroid hormone binding globulin (TBG) have not been fully evaluated in preterm infants at the immediate post-natal period, we studied the longitudinal changes of serum FT4 and TBG, along with thyroxine (T4) and thyroid stimulating hormone (TSH), at birth (cord blood), 2 days, 1 week and 2 weeks of age in 7 infants with birth body weight ≦ 1000 g, 7 infants with body weight 1001 to 1350 g, 11 infants with body weight 1351 to 2499 g, and 11 full-term infants. Free T4 concentrations were measured by Corning Medical radio-immunoassay (RIA) kit. The infants with extremely low birth weight (ELBW) (body weight ≦ 1000 g) showed precipitous declines of total T4 and, to a lesser extent, of FT4 concentrations at 1 and 2 weeks of age. These post-natal T4 and FT4 decreases in ELBW neonates have not previously been reported. The clinical significance of this finding remains, speculative, but it may be due to metabolic or nutritional problems related to extreme prematurity itself. This study suggests that measurement of FT4 is a useful adjunct to the assessment of ELBW infants with wery low T4 values, if done between 1 to 2 weeks af age, and could be used as a primary hypothyroid screening tool instead of T4 measurements, provided that an FT4 assay is developed that uses the elute of blood spotted on filter paper.


2018 ◽  
Vol 89 (4) ◽  
pp. 224-232 ◽  
Author(s):  
Hala Tfayli ◽  
Lama Charafeddine ◽  
Hani Tamim ◽  
Joanne Saade ◽  
Rose T. Daher ◽  
...  

Background/Aims: Preterm newborns with a very low birth weight (VLBW) of < 1,500 g have an atypical form of hypothyroidism with a delayed rise in TSH, necessitating a second newborn screening specimen collection. The aims of this study were to survey the compliance with second newborn screening to detect delayed TSH rise in VLBW preterm infants at a tertiary care center, and to determine the rate of atypical hypothyroidism. Methods: Retrospective review of the records of 104 preterm VLBW infants. Late TSH rise was defined as an increase in TSH concentration after 14 days of age in the presence of a normal initial screen. Results: The compliance rate was 92% for the second screening. High rates of hypothyroidism (16.3%) and of late TSH rise (4.8%) were detected. Patients with hypothyroidism had a significantly lower birth weight (p = 0.01) and longer hospital stay (p = 0.004). Patients with late versus those with early TSH rise had a significantly lower mean birth weight (851 ± 302 vs. 1,191 ± 121 g, p = 0.004). Conclusion: The rates of early and late TSH rise in this VLBW population were higher than those in the literature and could be due to the use of povidone-iodine disinfectants. The yield of a second TSH screening in this study was high indicating the need for vigilance in screening VLBW preterm infants.


Nutrients ◽  
2019 ◽  
Vol 11 (4) ◽  
pp. 839 ◽  
Author(s):  
Katsunori Tanaka ◽  
Yoshitaka Nakamura ◽  
Masaki Terahara ◽  
Takahide Yanagi ◽  
Sayuri Nakahara ◽  
...  

This study aimed to evaluate the association between bifidobacterial colonization in low birth weight infants and perinatal factors, including the timing of initial colostrum and the effect of probiotics on this colonization. In this non-randomized controlled trial, we enrolled 98 low-birth-weight infants from a neonatal intensive care unit (NICU) in Japan. Infants were divided into three groups: group N (no intervention), group H (received non-live bifidobacteria), and group L (received live bifidobacteria). The number of bifidobacteria in the infants’ stools at 1 month of age was measured using real-time polymerase chain reaction (PCR). We divided infants into “rich bifidobacteria” (≥104.8 cells/g feces) and “poor bifidobacteria” (<104.8 cells/g feces) subgroups. The ratio of “rich bifidobacteria” infants was 20/31, 34/36, and 30/30 in groups N, H, and L, respectively. In group N, the “rich bifidobacteria” group received first colostrum significantly earlier than the “poor bifidobacteria” group (1 day vs. 4 days, P < 0.05). Compared with the N group, both groups H and L had a significantly high proportion of “rich bifidobacteria” infants (P < 0.05). Bifidobacterial colonization was poor in premature infants at 1 month compared with term infants, and the level of colonization was associated with the timing of initial provision of colostrum. Providing probiotics to premature infants can improve bifidobacterial colonization.


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