Newborn Screening for Cystic Fibrosis Cystic Fibrosis (CF) is an autosomal recessive disorder that results in a shortened lifespan if appropriate treatment is not initiated sufficiently early. Approximately one in every 2,000 to one in every 3,500 Caucasians bom in Europe is affected by CF, which manifests itself in severe disorders of the lungs and the digestive system. Newborn screening for CF based on the analysis of bloodspot immunoreactive trypsinogen (IRT) has recently been introduced in a number of countries, including the UK. Also, it has been reported that pancreatitis associated protein (PAP) is elevated in bloodspots from neonates with CF and a strategy involving a combination of IRT and PAP may offer enhanced specificity. The study aims to develop an algorithm based on universal IRT measurements and subsequent PAP measurements in newborns with elevated IRT levels which will allow high detection rates to be maintained while at the same time decreasing the number of cases referred for DNA analysis and the accompanying detection of CF carriers. Prenatal Screening The aim of antenatal screening programmes is to offer couples reproductive choice, for example, termination of the pregnancy if the foetus is found to have a serious disorder such as CF. In this study, the physiological effects on women pregnant with a baby affected by CF were investigated. Several maternal serum markers were tested in this project in blood samples from women carrying a CF foetus. These markers are known to be associated with a number of adverse outcomes in pregnancy such as low birth weight, pre-term birth, pre-eclampsia, and stillbirth. The markers tested were alpha-fetoprotein (AFP), pregnancy-associated plasma protein (PAPP-A), human chorionic gonadotrophin (hCG), free beta subunit of hCG (FBhCG), unconjugated estriol (UE3) and Inhibin-A. (Abstract shortened by ProQuest.)
