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

Esteki, Masoud Zamani, Viltrop, Triin, Tsuiko, Olga, Tiirats, Airi, Koel, Mariann, Noukas, Margit, Zilina, Olga, Teearu, Katre, Marjonen, Heidi, Kahila, Hanna
et al (show 11 more authors) (2019) In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages. NATURE MEDICINE, 25 (11). 1699-+.

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Although chromosomal instability (CIN) is a common phenomenon in cleavage-stage embryogenesis following in vitro fertilization (IVF)<sup>1-3</sup>, 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<sup>4</sup>. Even though embryos with CIN-derived complex aneuploidies may arrest between the cleavage and blastocyst stages of embryogenesis<sup>5,6</sup>, a high number of embryos containing abnormal cells can pass this strong selection barrier<sup>7,8</sup>. 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.

Item Type: Article
Uncontrolled Keywords: Blastocyst, Fetus, Placenta, Humans, Chromosomal Instability, Fertilization in Vitro, Cell Lineage, Embryonic Development, Pregnancy, Genotype, Polymorphism, Single Nucleotide, Infant, Newborn, Female, Male, Embryo, Mammalian, DNA Copy Number Variations
Depositing User: Symplectic Admin
Date Deposited: 19 Dec 2019 16:02
Last Modified: 19 Jan 2023 00:12
DOI: 10.1038/s41591-019-0620-2
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