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ea0092op-06-02 | Oral Session 6: Pregnancy | ETA2023

Optimizing the dutch newborn screening for congenital hyothyroidism by using amino acids and acylcarnitines via a machine learning based approach

Jansen Heleen , van Haeringen Marije , Bouva Marelle , den Elzen Wendy , Bruinstroop Eveline , van der Ploeg Catharina , van Trotsenburg Paul , Zwaveling-Soonawala Nitash , Heijboer Annemieke , Bosch Annet , de Jonge Robert , Hoogendoorn Mark , Boelen Anita

Objectives: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by disturbances at the thyroid level (thyroidal CH, CH-T). Less frequently, but equally important, CH can be the result of hypothalamic/pituitary dysfunction (central CH, CH-C). Most CH newborn screening (NBS) programs are based on the measurement of thyroid-stimulating hormone (TSH), thereby only detecting CH-T. The Dutch NBS detects CH by measuring total T4 concentrations in...

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Optimizing the dutch newborn screening for congenital hyothyroidism by using amino acids and acylcarnitines via a machine learning based approach

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