Epimutations and Genetic Aberration Adversely Affect ART Outcome


  • AIIMS, Department of Anatomy, New Delhi, India
  • AIIMS, India
  • Army Research and Referral hospital, ART Center, India


In the last decade the advent of ART has proven to be a boon for the infertile couple. In a large number of infertile couples there may be a genetic basis. Such couples who harbor genetic abnormalities need to be provided comprehensive counseling prior to opting for ART. Despite state of art technology and professional expertise, the carry home live-birth rate in ART is low. One of the factors responsible for low success rate of ART in couples opting for ART could be genetic. We analyzed 350 couples with recurrent spontaneous abortions (RSA) among whom 86 were couples with recurrent ART/ICSI failure. All couples with 3 or more ART failures were referred for cytogenetic, Yq microdeletion and mitochondrial mutation analysis. Among these 86 couples cytogenetic abnormalities were detected in 32 (20 cases in the male and 12 cases in the female). Yq microdeletions were detected from genomic DNA isolated from blood in 7 men whereas 9 men showed Yq microdeletions in DNA isolated from spermatozoa. High frequency of mitochondrial mutations and deletion of 4977 were also detected in sperm DNA (n=3) and blood of the female partner (n=4). These genetic abnormalities may be iatrogenically transmitted to the offspring. In cases with sex chromosomal and autosomal aberrations there is probability of poor embryo development and, consequently, implantation failure and early fetal loss. ART is a very expensive technique and recurrent ART/IVF failure would result in severe financial burden and physical stress, coupled with emotional stress. It is suggested that all couples opting for ART must undergo genetic analysis.


ART, Chromosome, Epigenetics, Genetic Counseling, ICSI, Implantation Failure, Recurrent Miscarriage.

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