The impact of assisted reproductive technologies on the genome and epigenome of the newborn

J Neonatal Perinatal Med. 2013;6(2):101-8. doi: 10.3233/NPM-1366812.


The question of genetic alterations resulting from assisted reproductive technologies (ART) in humans is examined within the organization of the human genome. Increased rates of birth defects have been reported among children conceived using ART; however, questions remain and controversy exists regarding how "infertility" predisposes to birth defects. ART has been shown to be associated with an increased number of chromosomal alterations especially in the X chromosome. There is increased risk for embryonal tumors among ART conceived children, as well as, imprinting disorders (Beckwith-Wiedemann and Angelman Syndromes). Genetic studies of children conceived using ART reveal a larger (genome-wide) scale of methylation defects that encompass hundreds of genes. Genes involved in carcinogenesis and developmental pathways appear altered and may impact on later development of chronic illness, although these data are very preliminary. ART may create novel mutations by different chromosomal and molecular mechanisms; however, these techniques also enable propagation of pre-existing mutations that are associated with impaired fertility. While older maternal age is often associated with female infertility and chromosomal aneuploidy, sperm from older men have more new gene mutations. The prevalence of birth defects is increased when ART is used for conception. These data are summarized by large meta-analyses or from multi-year national registries. Whether the increased number of birth defects is due to ART procedures themselves or are a consequence of the impaired fertility of the parents is discussed. Long-term evaluation of children conceived using ART and/or ovarian hyper-stimulation is needed to determine whether alterations during embryonic development may increase the prevalence of chronic diseases in adulthood.

Keywords: In vitro fertilization; birth defects; imprinting disorders; infertility; intracytoplasmic sperm injection; methylation defects.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • Congenital Abnormalities / genetics*
  • DNA Methylation / genetics
  • Epigenesis, Genetic / genetics*
  • Female
  • Genome, Human / genetics*
  • Genomic Imprinting / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics
  • Pregnancy
  • Reproductive Techniques, Assisted / adverse effects*