First-trimester screening for Down syndrome using quadruple maternal biochemical markers.
Laurence CaronAlexandre FillionYves GiguèreFrançois AudibertJean-Claude ForestCédric GasseMario GirardGeneviève LaforestPaul GuerbyEmmanuel BujoldPublished in: Clinical chemistry and laboratory medicine (2023)
First-trimester screening using biochemical markers allows the identification of approximately 88% of Down syndrome cases for a false-positive rate of 13%. The addition of nuchal translucency raises the detection rate above 95% with a false-positive rate below 5%.