Sequence diversity lost in early pregnancy

Gudny A. Arnadottir, Hakon Jonsson (), Tanja Schlaikjær Hartwig, Jennifer R. Gruhn, Peter Loof Møller, Arnaldur Gylfason, David Westergaard, Andrew Chi-Ho Chan, Asmundur Oddsson, Lilja Stefansdottir, Louise le Roux, Valgerdur Steinthorsdottir, Kristjan H. Swerford Moore, Sigurgeir Olafsson, Pall I. Olason, Hannes P. Eggertsson, Gísli H. Halldórsson, G. Bragi Walters, Hreinn Stefansson, Sigurjon A. Gudjonsson, Gunnar Palsson, Brynjar O. Jensson, Run Fridriksdottir, Jesper Friis Petersen, Agnar Helgason, Gudmundur L. Norddahl, Palle Duun Rohde, Jona Saemundsdottir, Olafur Th. Magnusson, Bjarni V. Halldorsson, Sofie Bliddal, Karina Banasik, Daniel F. Gudbjartsson, Mette Nyegaard, Patrick Sulem, Unnur Thorsteinsdottir, Eva R. Hoffmann (), Henriette Svarre Nielsen () and Kari Stefansson ()
Additional contact information
Gudny A. Arnadottir: deCODE genetics/Amgen
Hakon Jonsson: deCODE genetics/Amgen
Tanja Schlaikjær Hartwig: Copenhagen University Hospital Hvidovre
Jennifer R. Gruhn: University of Copenhagen
Peter Loof Møller: Aalborg University
Arnaldur Gylfason: deCODE genetics/Amgen
David Westergaard: Copenhagen University Hospital Hvidovre
Andrew Chi-Ho Chan: University of Copenhagen
Asmundur Oddsson: deCODE genetics/Amgen
Lilja Stefansdottir: deCODE genetics/Amgen
Louise le Roux: deCODE genetics/Amgen
Valgerdur Steinthorsdottir: deCODE genetics/Amgen
Kristjan H. Swerford Moore: deCODE genetics/Amgen
Sigurgeir Olafsson: deCODE genetics/Amgen
Pall I. Olason: deCODE genetics/Amgen
Hannes P. Eggertsson: deCODE genetics/Amgen
Gísli H. Halldórsson: deCODE genetics/Amgen
G. Bragi Walters: deCODE genetics/Amgen
Hreinn Stefansson: deCODE genetics/Amgen
Sigurjon A. Gudjonsson: deCODE genetics/Amgen
Gunnar Palsson: deCODE genetics/Amgen
Brynjar O. Jensson: deCODE genetics/Amgen
Run Fridriksdottir: deCODE genetics/Amgen
Jesper Friis Petersen: University of Copenhagen
Agnar Helgason: deCODE genetics/Amgen
Gudmundur L. Norddahl: deCODE genetics/Amgen
Palle Duun Rohde: Aalborg University
Jona Saemundsdottir: deCODE genetics/Amgen
Olafur Th. Magnusson: deCODE genetics/Amgen
Bjarni V. Halldorsson: deCODE genetics/Amgen
Sofie Bliddal: Copenhagen University Hospital Hvidovre
Karina Banasik: Copenhagen University Hospital Hvidovre
Daniel F. Gudbjartsson: deCODE genetics/Amgen
Mette Nyegaard: Aalborg University
Patrick Sulem: deCODE genetics/Amgen
Unnur Thorsteinsdottir: deCODE genetics/Amgen
Eva R. Hoffmann: University of Copenhagen
Henriette Svarre Nielsen: Copenhagen University Hospital Hvidovre
Kari Stefansson: deCODE genetics/Amgen

Nature, 2025, vol. 642, issue 8068, 672-681

Abstract: Abstract Every generation, the human genome is shuffled during meiosis and a single fertilized egg gives rise to all of the cells of the body1. Meiotic errors leading to chromosomal abnormalities are known causes of pregnancy loss2,3, but genetic aetiologies of euploid pregnancy loss remain largely unexplained4. Here we characterize sequence diversity in early pregnancy loss through whole-genome sequencing of 1,007 fetal samples and 934 parental samples from 467 trios affected by pregnancy loss (fetus, mother and father). Sequenced parental genomes enabled us to determine both the parental and meiotic origins of chromosomal abnormalities, detected in half of our set. It further enabled us to assess de novo mutations on both homologous chromosomes from parents transmitting extra chromosomes, and date them, revealing that 6.6% of maternal mutations occurred before sister chromatid formation in fetal oocytes. We find a similar number of de novo mutations in the trios affected by pregnancy loss as in 9,651 adult trios, but three times the number of pathogenic small (

Date: 2025
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DOI: 10.1038/s41586-025-09031-w

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