down syndrome (ds) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. it is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. although the syndrome had been described thousands of years before, it was named after john langdon down who described ...

methods genomic dna of cultured s. agalactiae was prepared and loop-mediated isothermal amplification (lamp) primers were designed based on the camp gene in bacteria. the optimum primer set was selected based on the reaction speed and specificity. the reaction result was monitored visually. the sensitivity and specificity of the lamp method were evaluated and compared with polymerase chain reac...

OBJECTIVES Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give more insight into the decision for or against prenatal screening through nuchal...

OBJECTIVE To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. METHODS We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and Decembe...

STUDY OBJECTIVE Evaluating the costs, effects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. DESIGN A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For prenatal and preconceptional screening, two strategies were evaluated: single entry and double entry two step couple screening. Firstly, the...

Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) pr...

OBJECTIVES To compare the effectiveness, estimate the associated costs, and summarise available evidence about the feasibility and acceptability of different screening strategies in England and Wales. Also to establish a model for estimating effectiveness and costs of these different strategies. DATA SOURCES Literature searches were restricted to MEDLINE and EMBASE, as well as citations in in...