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van Dijk, T. (author), Kater, A. (author), Jansen, M. (author), Dondorp, W.J. (author), Blom, M. (author), Kemp, S. (author), Langeveld, M. (author), Cornel, M.C. (author), van der Pal, S.M. (author), Henneman, L. (author)
Neonatal bloodspot screening (NBS) aims to detect treatable disorders in newborns. The number of conditions included in the screening is expanding through technological and therapeutic developments, which can result in health gain for more newborns. NBS expansion, however, also poses healthcare, ethical and societal challenges. This qualitative...
article 2021
document
Naafs, J.C. (author), Marchal, J.P. (author), Fliers, E. (author), Verkerk, P.H. (author), Luijten, M.A.J. (author), Boelen, A. (author), van Trotsenburg, A.S.P. (author), Zwaveling-Soonawala, N. (author)
Context: Early treatment of primary congenital hypothyroidism (CH) prevents irreversible brain damage. Contrary to primary CH, outcome studies on central CH are scarce. Most patients with central CH have multiple pituitary hormone deficiencies (MPHD); these patients are also at risk for neonatal hypoglycemia. Objective: To assess cognitive and...
article 2021
document
Naafs, J.C. (author), Marchal, J.P. (author), Verkerk, P.H. (author), Fliers, E. (author), van Trotsenburg, A.S.P. (author), Zwaveling-Soonawala, N. (author)
Context. Central congenital hypothyroidism (CH) requires lifelong medical treatment. The majority of children with central CH have multiple pituitary hormone deficiencies (MPHD), but in some cases central CH is isolated. Most pituitary hormone deficiencies are associated with impaired health-related quality of life (HRQoL). However, studies on...
article 2021
document
Boelen, A. (author), van Veen, M. (author), Verkerk, P.H. (author), Diependaal, G. (author), Loeber, G. (author), Elvers, B. (author), Endert, E. (author)
The Dutch neonatal screening scheme for Congenital Hypothyroidism (CH) is primarily based on the determination of thyroxine (T4) in filter paper blood spots. In the lowest 5% of T4 values, thyroxine binding globulin (TBG) is measured in order to be able to correct for occasional low TBG levels. However, because the commercial TBG kit has been...
article 2013
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Detmar, S. (author), Dijkstra, N. (author), Nijsingh, N. (author), Rijnders, M. (author), Verweij, M. (author), Hosli, E. (author), TNO Kwaliteit van Leven (author), KvL (author)
Background: Advances in genomics will open up opportunities in the fields of genetic testing, early diagnosis and disease treatment. While neonatal screening is the field of application par excellencefor these developments, the debate on its potential benefits and drawbacks is mainly theoretically driven and based on the opinions of...
article 2008
document
Detmar, S. (author), Hosli, E. (author), Dijkstra, N. (author), Nijsingh, N. (author), Rijnders, M. (author), Verweij, M. (author), TNO Kwaliteit van Leven (author)
Background: The current neonatal screening program ("the heel prick") involves taking a few drops of blood from almost every newborn in the Netherlands to determine whether the child is suffering from one of three congenital disorders: phenylketonuria, congenital hypothyroid, or adrenogenital syndrome. This study investigated the preferences and...
article 2007
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