Remarkable Sperm Aneuploidy in Oligoasthenotera-tozoospermic (OAT) Patients Detected by Array CGH and FISH

سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 356

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شناسه ملی سند علمی:

RROYAN20_262

تاریخ نمایه سازی: 29 مهر 1398

چکیده مقاله:

Background: Embryonic aneuploidy could result in miscar-riage and implantation failure, whilst contribution of sperm aneuploidy in sterility is not well defined. OAT is associated with lower pregnancy and implantation rates. High incidence of aneuploidy has been reported in OAT spermatozoa using fluorescence in situ hybridization (FISH), but limited number of analyzed chromosomes is an inherent disadvantage of FISH studies. Comprehensive aneuploidy screening has not been studied in spermatozoa of OAT patients.Materials and Methods: A descriptive study including 5 infer-tile men with severe OAT according to WHO 2010 guidelines, aged 33-38 years and candidate for intracytoplasmic sperm in-jection were enrolled. Female partners were healthy ranged 26-35 years old. All the patients had normal blood karyotypes with 2-10.5 years of infertility and history of implantation failure. Pa-tients with idiopathic infertility were included by exclusion of Y chromosome microdeletions, chemotherapy, exposure to toxici-ty, high temperature and sexual hormonal alterations. Illumina 24 sure platform array comparative genomic hybridization (aCGH) was employed for three samples of each patient, each sample containing two sperm. Depending on the aneuploidies found by aCGH, multicolor FISH was utilized to find the magnitude of the detected abnormalities in total population of spermatozoa.Results: Aneuploidy was detected by aCGH in 66% of samples ranged 1-6 chromosomes per patient. The most frequent ones were chromosomes 8, 21(3 of 5 patients; 26.6% and 33.3% of samples, respectively). A range of 400-1286 sperm per patient were scored in FISH and 19 chromosomes were totally evalu-ated. The most frequent abnormalities were disomy of chromo-somes 13, 20 and X/Y with mean rates of 7.3%, 4.9% and 5.2%, respectively and total aneuploidy range was 38.25-81.6%.Conclusion: By aCGH, we observed abnormalities that hardly ever considered in sperm FISH studies, such as chromosomes 19 and 20. Considerable frequency of aneuploidies found by both aCGH and FISH techniques in OAT sperm cells, but aneu-ploidies of the single sperm seem to be independent of frequent aneuploidies in total sperm population. Regarding remarkable revealed aneuploidy, comprehensive preimplantation genetic screening (PGS) in OATs with idiopathic infertility specifically those with history of implantation failure is recommended.

نویسندگان

P Saei

Department of Molecular Genetics, Faculty of Basic Sciences and advanced Technologies in Biology, University of Science and Culture, ACECR, Tehran, Iran. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Bi

M Bazrgar

Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

H Gourabi

Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

R Kariminejad

Department of Cytogenetics, Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran