Abstract
Due to the impact worldwide of COVID-19, the 12th European ISNS meeting planned to be live in Luxembourg in November 2020 became Luxembourg Going Virtual in November 2021. The conference theme derived from the geographic location of Luxembourg was retained: Newborn screening—working together in the heart of Europe. s of the newborn screening experience and knowledge shared in both oral presentations and posters at the symposium are gathered here to assist in selecting presenters to attend virtually and posters to view online. Some abstract highlights include findings from pilot studies of new screening disorders, the value of screening older previously unscreened children, and benefits of second tier testing.
Highlights
Congenital hypothyroidism (CH), caused by insufficient thyroid hormone production, is the most common endocrine development disorder and the most common preventable cause of mental retardation
This study indicates that using enzyme assay, biomarker measurement, and genetic studies, screening, and diagnosis is possible with a single dried blood spots (DBS) sample, simplifying and speeding up the overall process
Further linear regression analysis showed that creatine kinase MM isoform (CK-MM) concentration was much more closely correlated with gestational age (GA) and age at sampling, with a minimal effect related to birth weight (BW)
Summary
Congenital hypothyroidism (CH), caused by insufficient thyroid hormone production, is the most common endocrine development disorder and the most common preventable cause of mental retardation. With the neonatal RusH protocol we aimed to prevent early symptomatology and provide screening results within the first week of life in neonates with a known family member with a hereditary metabolic disease (HMD), or mother with acute fatty liver in pregnancy (AFLP) This is done by instituting feeding regimens and dried blood spots (DBS) analysis of cord-blood and heel sticks before second feeding and 24 h after birth. Defect of cobalamin C (CblC) is an autosomal recessive inherited disease caused by mutation in MMACHC gene (OMIM#609831) This condition is associated with an increase of propionylcarnitine (C3) in dried blood spot (DBS) detected through tandem mass spectrometry and it is included in the expanded newborn screening (NBS) program in several countries.
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