In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

Masoud Zamani Esteki, Triin Viltrop, Olga Tsuiko, Airi Tiirats, Mariann Koel, Margit Noukas, Olga Zilina, Katre Teearu, Heidi Marjonen, Hanna Kahila, Jeroen Meekels, Viveca Söderström-Anttila, Anne-Maria Suikkari, Aila Tiitinen, Reedik Mägi, Sulev Köks, Nina Kaminen-Ahola, Ants Kurg, Thierry Voet, Joris Robert VermeeschAndres Salumets

Research output: Contribution to journalArticleScientificpeer-review

Abstract

Although chromosomal instability (CIN) is a common phenomenon in cleavage-stage embryogenesis following in vitro fertilization (IVF)(1-3), its rate in naturally conceived human embryos is unknown. CIN leads to mosaic embryos that contain a combination of genetically normal and abnormal cells, and is significantly higher in in vitro-produced preimplantation embryos as compared to in vivo-conceived preimplantation embryos(4). Even though embryos with CIN-derived complex aneuploidies may arrest between the cleavage and blastocyst stages of embryogenesis(5,6), a high number of embryos containing abnormal cells can pass this strong selection barrier(7,8). However, neither the prevalence nor extent of CIN during prenatal development and at birth, following IVF treatment, is well understood. Here we profiled the genomic landscape of fetal and placental tissues postpartum from both IVF and naturally conceived children, to investigate the prevalence and persistence of large genetic aberrations that probably arose from IVF-related CIN. We demonstrate that CIN is not preserved at later stages of prenatal development, and that de novo numerical aberrations or large structural DNA imbalances occur at similar rates in IVF and naturally conceived live-born neonates. Our findings affirm that human IVF treatment has no detrimental effect on the chromosomal constitution of fetal and placental lineages.

Original languageEnglish
JournalNature Medicine
Volume25
Issue number11
Pages (from-to)1699–1705
Number of pages15
ISSN1078-8956
DOIs
Publication statusPublished - 4 Nov 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 3111 Biomedicine
  • 3123 Gynaecology and paediatrics
  • HIDDEN-MARKOV MODEL
  • HUMAN-EMBRYOS
  • CHROMOSOME INSTABILITY
  • MOSAICISM
  • GENOME
  • ANEUPLOIDY
  • COMMON
  • ABNORMALITIES
  • CONSTITUTION
  • BLASTOCYSTS

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