Abstract
BackgroundTo facilitate the experimental search for novel maternal serum biomarkers in prenatal Down Syndrome screening, we aimed to create a set of candidate biomarkers using a data mining approach.Methodology/Principal FindingsBecause current screening markers are derived from either fetal liver or placental trophoblasts, we reasoned that new biomarkers can primarily be found to be derived from these two tissues. By applying a three-stage filtering strategy on publicly available data from different sources, we identified 49 potential blood-detectable protein biomarkers. Our set contains three biomarkers that are currently widely used in either first- or second-trimester screening (AFP, PAPP-A and fβ-hCG), as well as ten other proteins that are or have been examined as prenatal serum markers. This supports the effectiveness of our strategy and indicates the set contains other markers potentially applicable for screening.Conclusions/SignificanceWe anticipate the set will help support further experimental studies for the identification of new Down Syndrome screening markers in maternal blood.
Highlights
IntroductionPrenatal screening for Down Syndrome (DS) has been available to pregnant women
For over two decades, prenatal screening for Down Syndrome (DS) has been available to pregnant women
Identification of Tissue-Specific Candidate Genes The DS screening biomarkers currently implemented in the first trimester combined test or the second trimester triple test are derived from two tissues, namely fetal liver and placental trophoblasts
Summary
Prenatal screening for Down Syndrome (DS) has been available to pregnant women. The most commonly used method for risk calculation was the second trimester triple test, which combines serum levels for alpha-fetoprotein (AFP), unconjugated estriol (uE3), and the free b subunit of human chorion gonadotrophin (fbhCG) with maternal age [1,2] In recent years, this test has been largely replaced by the first trimester combined test, which is based on fb-hCG and pregnancy-associated plasma protein A (PAPP-A) serum concentrations, ultrasound nuchal translucency (NT) measurements and maternal age [3]. This test has been largely replaced by the first trimester combined test, which is based on fb-hCG and pregnancy-associated plasma protein A (PAPP-A) serum concentrations, ultrasound nuchal translucency (NT) measurements and maternal age [3] The latter test is the method currently available to pregnant women in the Netherlands. To facilitate the experimental search for novel maternal serum biomarkers in prenatal Down Syndrome screening, we aimed to create a set of candidate biomarkers using a data mining approach
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