학술논문
Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study
Document Type
Article
Author
Schlaikjær Hartwig, Tanja; Ambye, Louise; Gruhn, Jennifer R; Petersen, Jesper Friis; Wrønding, Tine; Amato, Letizia; Chi-Ho Chan, Andrew; Ji, Boyang; Bro-Jørgensen, Maiken Hemme; Werge, Lene; Petersen, Mette Marie Babiel Schmidt; Brinkmann, Clara; Petersen, Julie Birch; Dunø, Morten; Bache, Iben; Herrgård, Markus J; Jørgensen, Finn Stener; Hoffmann, Eva R; Nielsen, Henriette Svarre; Nielsen, Henriette Svarre; Hartwig, Tanja Schlaikjær; Freiesleben, Nina la Cour; Jørgensen, Finn Stener Jørgensen; Ambye, Louise; Bliddal, Sofie; Søndergaard, Therese Juhlin; Ostrowski, Sisse Rye; Sørensen, Erik; Larsen, Margit Anita Hørup; Herregård, Markus J.; Hoffmann, Eva; Gruhn, Jenny; Chan, Andy Chi Ho; Kolte, Astrid Marie; Westergaard, David; þorsteinsdóttir, Unnur; Stefánsson, Kári; Jónsson, Hákon; Magnússon, Ólafur þ.; Steinthorsdottir, Valgerdur; Schmidt, Lone; Kristiansen, Karsten; Kamstrup, Pia Rørbæk; Nyegaard, Mette; Krog, Maria Christine; Løkkegaard, Ellen Christine Leth; Bredkjær, Helle Ejdrup; Wilken-Jensen, Charlotte
Source
The Lancet; March 2023, Vol. 401 Issue: 10378 p762-771, 10p
Subject
Language
ISSN
01406736; 1474547X
Abstract
One in four pregnancies end in a pregnancy loss. Although the effect on couples is well documented, evidence-based treatments and prediction models are absent. Fetal aneuploidy is associated with a higher chance of a next successful pregnancy compared with euploid pregnancy loss in which underlying maternal conditions might be causal. Ploidy diagnostics are therefore advantageous but challenging as they require collection of the pregnancy tissue. Cell-free fetal DNA (cffDNA) from maternal blood has the potential for evaluation of fetal ploidy status, but no large-scale validation of the method has been done.