Congenital hypothyroidism after newborn screening program reorganization in the Apulia region

Abstract

Background Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to evaluate the incidence and etiological classification of CH in Apulia in a three-year period according to the reorganization of the regional screening program in a single central laboratory, as well as to analyze the growth characteristics and the associated risk factors of the CH newborns diagnosed during the study period. Methods Data derived from the reorganization of the newborn screening program for CH in a single central laboratory that collects dried blood spot (DBS) from 27 Maternity Hospitals are analyzed over a three-year period. Birth weight and length, daily dose of L-T4 at specific key points (3, 6, 12 and 18 months, 2, 2.5 and 3 years) were also obtained from medical records of the CH newborns during the study period and calculated as standard deviation score (SDS). Results The screening program diagnosed 90 newborns with confirmed CH (incidence 1:990; recall rate: 3.6%). In detail, 75.6% newborns had an eutopic thyroid, and 24.4% had thyroid dysgenesis; 33 out of the 90 newborns (36.6%) had one or more risk factors. Among these, the multiple pregnancies are the most important because they tripled the risk of CH. At diagnosis, TSH levels were different between patients with dysgenesis and those with an eutopic thyroid (p = 0.005). Treatment was started at a mean of 18.5 ± 12.8 days of life. The mean starting dose of levothyroxine (L-T4) was 11.38 ± 2.46 μg/kg/day. Conclusions The results of these study show an increase of CH cases in newborns with an eutopic thyroid compared to the traditional classification. The centralization of the screening program allows a closer cooperation between laboratory and clinical centers and facilitates the implementation of appropriate diagnostic evaluations and timely initiation of treatment, with positive effects on the management of the condition.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…A study of births in Piedmont indicated that their current two-screen protocol for all newborns was sufficient [ 873 ]. In the Apulia region, relocation of the screening laboratory to a more central location has also been shown to improve clinical care for CH through more timely initiation of treatment and improved case management [ 874 ].…”

Impact of lowering TSH cut-off on neonatal screening for congenital hypothyroidism in Minas Gerais, Brazil

“…High recall rates represent higher costs for screening programs, in addition to a higher number of healthy children undergoing needless exams and appointments, with a relevant emotional impact for the patients and their families. The recall rate increased in all reported programs that implemented a reduction in the cut-off screening [30,31], up to 10 times [24,32].…”

Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil

“…A similar reduction, from 10 to 6 mIU/L in the United Kingdom, led the recall rate to increase from 0.08% to 0.23% [ 12 ]. The recall rate increased in all reported programs that implemented a reduction in the cut-off screening [ 30 , 31 ], up to 10 times [ 24 , 32 ]. High recall rates represent higher costs for screening programs, in addition to a higher number of healthy children undergoing needless exams and appointments, with a relevant emotional impact for the patients and their families.…”