Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART)

Authors
Subhadra Poornima 1
Swarnalatha Daram 1
Rama Devaki 2
Hasan Qurratulain 3
1 Department of Genetics and Molecular Medicine, Kamineni Life Sciences, Moulali, Hyderabad, India; Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India
2 Department of Biochemistry, Kamineni Academy of Medical Sciences and Research Centre, Hyderabad, India
3 Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India
10.18502/jri.v21i4.4331
Abstract
Background: World Health Organization estimates that 60-80 million couple worldwide currently suffer from infertility. Recurrent pregnancy loss (RPL) is also another major concern. Chromosomal rearrangements play a crucial role in primary and secondary infertility and RPL. Underlying genetic abnormalities like chromosomal abnormalities contribute to 5-10% of the reproductive failures. The aim of the study was to evaluate the chromosomal abnormalities in infertility and RPL cases to help obstetrician/fertility experts carry out risk assessment and provide appropriate assisted reproductive techniques for better management of the problem. Methods: Karyotyping was performed for 414 cases with the history of infertility and RPL over a period of one year. Samples were processed according to procedures of AGT cytogenetic laboratory manual. Results: Chromosomal abnormalities were observed in 15% of cases. Robertsonian translocation, reciprocal translocation, inversion, derivatives, marker chromosomes, mosaics, aneuploidy and polymorphic variants each contributed 2%, 3%, 3%, 13%, 2%, 10%, 6% and 61%, respectively. Conclusion: Evaluation of chromosomal abnormalities in couple is warranted prior to planning pregnancy especially for assisted reproductive management cases. Chromosomal analysis can be used as one of the diagnostic tools by OBG/IVF specialists in association with geneticist/genetic counselor for proper reproductive counseling and management.
Keywords
Banding
Culturing
Heterochromatin
Infertility
Inversion
Polymorphism
Translocation
Vander Borght M, Wyns C. Fertility and infertility: definition and epidemiology. Clin Biochem. 2018:62:2-10.
Practice committee of the American society for reproductive medicine. Multiple gestation associated with infertility therapy: an American society for reproductive medicine practice committee opinion. Fertil Steril. 2012;97(4):825-34.
Datta J, Tanton C, Gibson LJ, Jones KG, Macdowall W, Glasier A, et al. Prevalence of infertility and help seeking among 15000 women and men. Hum Reprod. 2016;31(9):2108-118.
Mascarenhas MN, Flaxman SR, Boerma T, Vanderpoel S, Stevens GA. National, regional, and global trends in infertility prevalence since 1990: a systematic analysis of 277 health surveys. PLoS Med. 2012;9(12):e1001356.
Pal AK, Ambulkar PS, Waghmare JE, Wankhede V, Shende MR, Tarnekar AM. Chromosomal aberrations in couples with pregnancy loss: a retrospective study. J Hum Reprod Sci. 2018;11(3):247-53.
Dutta UR, Rajitha P, Pidugu VK, Dalal AB. Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review. J Assist Reprod Genet. 2011;28(2):145-9.
Hanson B, Johnstone E, Dorais J, Silver B, Peterson CM, Hotaling J. Female infertility, infertility-associated diagnoses, and comorbidities: a review. J Assist Reprod Genet. 2017;34(2):167-77.
Arsham MS, Barch MJ, Lawce HJ, editors. The AGT cytogenetics laboratory manual. USA: John Wiley & Sons; 2017. 1103 p.
Patki A, Chauhan N. An epidemiology study to determine the prevalence and risk factors associated with recurrent spontaneous miscarriage in India. J Obstet Gynecol India. 2016;66(5):310-5.
Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Samadi AS, et al. Genetic, chromosomal, and syndromic causes of neural tube defects. Saudi Med J. 2014;35(Suppl 1):S49-56.
Hu Q, Chai H, Shu W, Li P. Human ring chromosome registry for cases in the Chinese population: re-emphasizing cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. Mol Cytogenet. 2018;11(1):19.
Ghazaey S, Keify F, Mirzaei F, Maleki M, Tootian S, Ahadian M, et al. Chromosomal analysis of couples with repeated spontaneous abortions in northeastern iran. Int J Fertil Steril. 2015;9(1):47-54.
Kate UV, Pokale YS, Jadhav AM, Gangane SD. Chromosomal aberrations and polymorphic evaluation in males with primary infertility from Indian population. J Clin Diagn Res. 2014;8(10):SC01-6.
Mathur A, Stekol L, Schatz D, MacLaren NK, Scott ML, Lippe B. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. Am J Hum Genet. 1991;48(4):682-6.
Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt-Leeper G, et al. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature. 1997;387(6634):705-8.
Babre VM, Bendre K, Niyogi G. A rare case of swyer syndrome. Int J Reprod Contracept Obstet Gynecol. 2013;2(3):485-7.
Venkateshwari A, Srilekha A, Sunitha T, Pratibha N, Jyothy A. A robertsonian translocation rob (14; 15)(q10: q10) in a patient with recurrent abortions: a case report. J Reprod Infertil. 2010;11(3):197-200.
Miryounesi M, Diantpour M, Motevaseli E, Ghafouri-Fard S. Homozygosity for a Robertsonian translocation (13q; 14q) in a phenotypically normal 44, XX female with a history of recurrent abortion and a normal pregnancy outcome. J Reprod Infertil. 2016;17(3):184-7.
Zhao WW, Wu M, Chen F, Jiang S, Su H, Liang J, et al. Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China. PloS One. 2015;10(5):e0122647.
Hultén M, Smith E, Delhanty J. Errors in chromosome segregation during oogenesis and early embryogenesis. In: Carrell D, Peterson C, editors. Reproductive endocrinology and infertility. New York: Springer; 2010. p. 325-42.
Gardner RM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. 4th ed. USA: Oxford university press; 2011. 511 p.
Li P, Pomianowski P, DiMaio MS, Florio JR, Rossi MR, Xiang B, et al. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. Am J Med Genet A. 2011;155A(7):1605-15.
Settin A, Abu-Saif IS, El-Baz R, Dowaidar M, Kasim RA, Shabana S. Diagnosis of sex chromosome disorders and prenatal diagnosis of down syndrome using interphase fluorescent in-situ hyperidization technique. Int J Health Sci (Qassim). 2007;1(2):203-9.
Kovaleva NV, Cotter PD. Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements. Mol Cytogenet. 2016;9(1):8.
Baghbani F, Mirzaee S, Hassanzadeh-Nazarabadi M. Association of heteromorphism of chromosome 9 and recurrent abortion (ultrasound diagnosed blighted ovum): a case report. Iran J Reprod Med. 2014;12(5):357-60.
Sheth FJ, Liehr T, Kumari P, Akinde R, Sheth HJ, Sheth JJ. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study. Indian J Hum Genet. 2013;19(4):415-22.
Sípek Jr A, Mihalová R, Panczak A, Hrčková L, Janashia M, Kaspříková N, et al. Heterochromatin variants in human karyotypes: a possible association with reproductive failure. Reprod Biomed Online. 2014;29(2):245-50.
Sahin FI, Yilmaz Z, Yuregir OO, Bulakbasi T, Ozer O, Zeyneloglu HB. Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet. 2008;25(5):191-5.
Journal of Reproduction & Infertility
Volume 21, Issue 4
Autumn 2020
Pages 269-274