title: Necessity of nuclear and mitochondrial genome analysis prior to assisted reproductive techniques/intracytoplasmic sperm injection.
abstract: Assisted reproductive technique (ART) has revolutionized the management of severe male factor infertility and in some countries 5% babies are conceived through ART/intra cytoplasmic sperm injection (ICSI). However, the carry-home live birth rate after several ART cycles is low (18-25%) and this is financially, physically and emotionally crippling for the couples. Genetic factors could lead to pre or post-implantation failure and thus explain for low ART success rate. Thus, this study was planned to understand, if infertile men harbour genetic abnormalities which may be iatrogenically transmitted by ART and adversely affect growth potential of embryo. Ninety infertile men underwent semen, cytogenetic, Yq microdeletion and mitochondrial mutation analysis. Of these, 14.4% cases harboured cytogenetic abnormality, and 8.89% Yq microdeletions. A high frequency of mitochondrial mutations was found in 23 men with asthenospermia. It is important to understand that through ART genetic abnormalities are transmitted to offspring, resulting in impaired growth and development potential of embryo and poor take-home live birth rate. Thus, genetic analysis is strongly recommend in all men with idiopathic infertility who opt for ART to counsel couples and provide them with most adapted therapeutics.
authors.affiliation: Laboratory of Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Science (AIIMS), N. Delhi 110029, India.
authors.forename: Rakesh
authors.initials: R
authors.lastname: Kumar
authors.forename: Audesh
authors.initials: A
authors.lastname: Bhat
authors.forename: R N K
authors.initials: RN
authors.lastname: Bamezai
authors.forename: M B
authors.initials: MB
authors.lastname: Shamsi
authors.forename: R
authors.initials: R
authors.lastname: Kumar
authors.forename: N P
authors.initials: NP
authors.lastname: Gupta
authors.forename: A C
authors.initials: AC
authors.lastname: Ammini
authors.forename: M
authors.initials: M
authors.lastname: Aron
authors.forename: R K
authors.initials: RK
authors.lastname: Sharma
authors.forename: Rima
authors.initials: R
authors.lastname: Dada
mesh_terms: D000328:Adult; D002467:Cell Nucleus / Q000235:genetics*; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D005784:Gene Amplification; D016678:Genome; D006801:Humans; D066298:In Vitro Techniques; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D027724:Reproductive Techniques, Assisted; D012661:Semen / Q000737:chemistry; D020554:Sperm Injections, Intracytoplasmic