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NEONATAL SCREENING FOR CONGENITAL HYPOTHYROIDISM IN ROMANIA: DATA FROM MEDILOG MEDICAL INFORMATION REGISTRY
M Nanu1,2, I S Ardeleanu3,4, F Brezan3,4
1"Alessandrescu-Rusescu" National Institute for Mother and Child Health - Research Department in Social Pediatry and Obstetrics, Bucuresti, Romania.
Insights
Neonatal screening for congenital hypothyroidism (CH) using the MEDILOG registry effectively monitors disease incidence and aids early detection. This system helps prevent intellectual disability in newborns through timely diagnosis and treatment.
Area of Science:
- Neonatal screening
- Endocrinology
- Public health
Background:
- Congenital hypothyroidism (CH) is a leading preventable cause of intellectual disability in neonates.
- Early detection via neonatal screening is crucial for preventing developmental impairments.
Purpose of the Study:
- To present an 8-year experience using the MEDILOG national registry for neonatal CH screening.
- To evaluate the effectiveness of the MEDILOG registry in monitoring CH screening processes.
Main Methods:
- TSH measurement in dried blood spots for neonatal screening.
- Organization of screening across 5 regional centers with reference laboratories.
- Utilizing the MEDILOG national registry for data management and monitoring.
Main Results:
- In 2018, 80% of newborns were registered in MEDILOG.
- Confirmed CH incidence in 2018 ranged from 1/3576 to 1/4746.
- Median time from birth to laboratory result for positive cases was 19 days.
Conclusions:
- The MEDILOG registry is a valuable tool for monitoring neonatal CH screening.
- It facilitates evaluation of CH incidence, disease progression, and iodine deficiency.
- The registry supports research aimed at improving early detection and treatment of CH.
Objective:
Congenital hypothyroidism (CH) is one of the common preventable causes of intellectual disability in neonates, by early detection through neonatal screening. We present the 8-year experience of the National Institute for Mother and Child Health (INSMC) in using MEDILOG national registry for the neonatal screening of CH.
Methods:
Neonatal screening for CH, done by TSH measurement in dried blood spot, is organized in 5 regional centers, each with a reference laboratory.
Results:
In 2018 80% of all the newborns, from 80% of the maternity hospitals, were registered in MEDILOG. After re-testing of TSH and T4/FT4 from venous blood in positive cases, the incidence of confirmed CH in 2018 was 1/3576 - 1/ 4746. In INSMC center (which includes 26 counties and Bucharest, out of 41 counties), in 2018 the incidence of positive CH cases at screening was 1/2094 (TSH cut-off ≥17 mIU/L) and of confirmed CH cases 1/3576 newborns. For positive screening cases, the median duration from birth to the INSMC laboratory result was 19 days: median of 9 days between screening and laboratory registration and 6 days between registration and test result.
Conclusion:
MEDILOG registry is a practical instrument for monitoring the steps of neonatal CH screening, the incidence of CH, the evolution of the diagnosed cases, for evaluation of iodine deficiency (by neonatal TSH), and also for research, with the aim of improving early disease detection and treatment.
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