Abstract
To review the characteristics of newborn screening of congenital hypothyroidism (CH), we reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating hormone (TSH), and serum TSH and free thyroxine (FT4), of all newborn infants who accepted the newborn screening program during the last 14 years. In total, 437,342 newborn infants underwent CH screening and 192 infants were diagnosed with CH and the incidence of CH was 1:2278. The positive rate of the initial screening was 0.96%, and the positive predictive value was 4.8%. We also designed a target sequencing panel including 13 causative genes: DUOX2, TG, TPO, TSHR, TTF1, TTF2, PAX8, NKX2-5, GNAS, THRA, TSHB, IYD and SLC5A5, to identify the spectrum and prevalence of disease-causing gene mutations in Chinese CH patients. CH-causing genes were detected by targeted next-generation sequencing in 106 CH infants. A total of 132 mutations were identified in 69 cases (65.1%). Of these 132 mutations, 92 (69.70%), 28 (21.21%), and 12 (9.09%) were related to thyroid dyshormonogenesis, thyroid dysgenesis, and thyrotropin resistance, respectively. Mutations in CH-causing genes were found mainly in DUOX2, TG and TSHR, and DUOX2 is the most gene mutation in Chinese CH patients.
Highlights
Congenital hypothyroidism (CH), which is defined by inadequate thyroid hormone production in newborn infants, is the most common neonatal metabolic disorder worldwide, with an incidence of 1 in 2000–4000 live births (Rastogi and LaFranchi, 2010)
CH screening is an important component of the newborn screening (NBS) program, which is widely used as the third prevention intervention of birth defects (Keskinkılıç, 2014; Berry, 2015)
3,931 infants had positive results, and their neonatal thyroid-stimulating hormone (NTSH) levels were in the range of 9.0–20.0 mIU/L
Summary
Congenital hypothyroidism (CH), which is defined by inadequate thyroid hormone production in newborn infants, is the most common neonatal metabolic disorder worldwide, with an incidence of 1 in 2000–4000 live births (Rastogi and LaFranchi, 2010). Most neonates born with CH have a normal appearance and no detectable physical signs. CH screening is an important component of the newborn screening (NBS) program, which is widely used as the third prevention intervention of birth defects (Keskinkılıç,, 2014; Berry, 2015). Using the NBS program, we can detect symptomless children with CH early. Children can receive a definitive diagnosis, and the proper treatment can be applied in time to prevent further complications and sequelae. The NBS program was established in Changzhou city in 2004, and approximately 430,000 infants have since been tested
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