Screening for hypercholesterolaemia in 10,000 neonates in a multi-ethnic population

Abstract

Neonatal screening for hypercholesterolaemia using blood spot apolipoprotein measurements is feasible but ethnic variations in disease prevalence must be considered in the design of a screening programme.

Screening and Treatment for Lipid Disorders in Children and Adolescents: Systematic Evidence Review for the US Preventive Services Task Force

“…140 Neonatal screening for dyslipidemia has been examined in multiple studies of cord blood testing, 53,141-154 dried filter paper blood spots from cord blood, 155 or heel sticks of 3-to 7-day-old infants. [156][157][158][159][160][161] No studies screened a general population of infants and followed abnormal results with mutation analysis or LDL-C receptor activity assays, which makes it difficult to determine the value of such screening.…”

Assessing environmental exposure in children: immunotoxicology screening

“…Additionally, there exists a wealth of archival blood spots collected from infants at birth ( Loffredo and Ewing, 1997 ) . Dried blood spots have been used extensively for the screening of neonates for a variety of different analytes ranging from cocaine exposure ( Henderson et al, 1997 ), to screening for thyroid hormones ( Hearn and Hannon, 1982;Slazyk et al, 1988 ), hypercholesterolaemia (Beeso et al, 1999 ) and folate ( O'Broin and Gunter, 1999 ). Dried blood spots have also been used to study environmental exposure to dichlorodiphenyldichloroethylene ( Burse et al, 1997 ) .…”

Homozygous familial hypercholesterolemia: development and a case illustration

“…xanthomes. Le pronostic de la maladie est lié aux complications cardiovasculaires athéromateuses qui, en l'absence de traitement, entraînent le décès du patient dans les trois premières décennies le plus souvent par infarctus du myocarde ou mort subite [5,6]. Nous rapportons dans ce travail, un cas d'HF diagnostiqué au laboratoire de biochimie de CHU de Rabat.…”