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 Table of Contents  
Year : 2015  |  Volume : 2  |  Issue : 3  |  Page : 49-51

Chromosomal abnormalities and polymorphisms among couples with recurrent in vitro fertilization (IVF) failure

1 Department of Obstetrics and Gynecology, Medical School, Sifa University, Izmir, Turkey
2 Department of Medical Biology and Genetics, Sifa University, Izmir, Turkey
3 Department of Obstetrics and Gynecology, Manisa Merkez Efendi Hospital, Manisa, Turkey

Date of Web Publication8-Oct-2015

Correspondence Address:
Dr. Guluzar Arzu Turan
Department of Obstetrics and Gynecology, Sifa University Hospital, Izmir
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2148-7731.166854

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Aim: The present study aims to evaluate chromosomal structure among couples with a history of recurrent in vitro fertilization (IVF) failure undergoing assisted reproduction treatment. Materials and Methods: Chromosomal structure analysis was conducted on peripheral blood samples from couples with an indication of recurrent IVF failure at the Genetic Diagnosis Center Cytogenetics Laboratory between 2007 and 2012. All data were investigated retrospectively. Results: Abnormal chromosome organization was observed in 39 (15.8%) females and in four (1.7%) males. Moreover, chromosomal polymorphism was detected in 15 (6%) females and 28 (12%) males. Almost all chromosomal abnormalities were associated with sex chromosomes. Conclusion: Highly abnormal chromosome organization was observed in couples with recurrent IVF failures. Preimplantation genetic diagnosis should be offered to these patients to evaluate the likelihood of treatment success and the establishment of a healthy pregnancy.

Keywords: Chromosomal abnormality, chromosomal polymorphism, implantation failure, IVF failure

How to cite this article:
Turan GA, Kaya I, Genē M, Kasap E, Eskicioglu F, Gur EB, Tatar S, Sahin N. Chromosomal abnormalities and polymorphisms among couples with recurrent in vitro fertilization (IVF) failure. Sifa Med J 2015;2:49-51

How to cite this URL:
Turan GA, Kaya I, Genē M, Kasap E, Eskicioglu F, Gur EB, Tatar S, Sahin N. Chromosomal abnormalities and polymorphisms among couples with recurrent in vitro fertilization (IVF) failure. Sifa Med J [serial online] 2015 [cited 2021 Jun 19];2:49-51. Available from: https://www.imjsu.org/text.asp?2015/2/3/49/166854

  Introduction Top

Recurrent in vitro fertilization (IVF) failure is defined as the inability to establish pregnancy despite high quality embryo transfer (ET) after application of at least three consecutive IVF/intracytoplasmic sperm injection (ICSI)-ET procedures. [1],[2] Despite recent developments in assisted reproductive techniques, the implementation success rate after ET remains approximately 15%. [3],[4] The etiology of this condition is unclear and probably results from multiple factors. Embryonic chromosomal abnormalities in embryos are one possible cause of recurrent implantation failure (RIF). [5],[6],[7]

In the present study, we evaluated karyotyping data collected from couples with non-male or moderate male infertility who had undergone three unsuccessful IVF/ICSI cycles without the establishment of pregnancy.

  Materials and Methods Top

A total of 480 patients (247 women and 233 men) with RIF who were referred for karyotype analysis between January 2007 and December 2012 were included in the present study. Criteria for inclusion included at least three failed IVF/ICSI treatment cycles, defined as cycles where high quality ET did not result in pregnancy detectable by ultrasound.

Criteria for exclusion from the present study included recurrent miscarriage (≥2), primary amenorrhea, abnormal phenotype, severe oligoasthenoteratozoospermia, or nonobstructive azoospermia.

Karyotype analysis

Allkaryotype analyses were performed at the Center for Medical Genetics. Peripheral blood lymphocytes were cultured for 72 h in a 37°C incubator. At 2 h prior to the chromosomal harvest procedure, 100 µl colcemid (Gibco) was applied. Cells were centrifuged and 10 ml hypotonic solution (0.075 mole/l KCl) was added after the supernatant was discarded followed by incubation for 30 minutes at 37°C. Subsequently, the cells were washed three to four times with fixative solution prepared with a 1: 3 solution of acetic acid and methanol. Staining was conducted with Giemsa-trypsin banding method and chromosome analysis was performed using a karyotyping system. Results were reported according to International System for Human Cytogenetic Nomenclature (ISCN). When presuming mosaicism, additional metaphases samples were examined.

  Results Top

The study group included 480 patients (247 women and 233 men) [Table 1]. All patients were Turkish. Nearly all observed chromosomal abnormalities were associated with sex chromosomes. Chromosomal abnormalities were diagnosed in 43 out of 480 patients (8.96%):39 females (15.8%) and four males (1.7%). In the female subgroup, all were sex chromosome aberrations, including one translocation and four gonosomal mosaicism. Male karyotype aberrations included one autosomal abnormality and three cases of gonosomal mosaicism.
Table 1: Chromosome analysis results in couples with recurrent ivf failure

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Polymorphic variants were observed in 15 (6%) females and 28 (12%) males. While polymorphism was observed most frequently on chromosomes 15 and 9 in females, polymorphism was observed most frequently on chromosomes 9, 15, and 1 and the Y chromosome in males.

Karyotype abnormalities were more common among female RIF patients. The prevalence of karyotype abnormalities in the male subgroup (1.7%) was reduced relative to females (15.8%). Moreover, the proportion of polymorphisms was higher in males (12%) than in females (6%).

  Discussion Top

Rearrangements of the sex chromosomes are the most common type of karyotype abnormality in both women and men. The prevalence of karyotype abnormalities in the female subgroup (15.8%) is higher than the results presented elsewhere in the literature for women with RIF (2.73and 12%, respectively). [8],[9]

Among males in the present study group, the overall prevalence of aberrations (1.7%) was comparable to previous reports regarding men diagnosed with RIF (2.26%). [8] Chromosomal abnormalities are more prevalent among men with poor sperm quality due to conditions such as extreme oligospermia or azoospermia. [10] These patients were not included in the present study, which excluded most forms of male infertility prior to karyotype analysis. Thus, a selection bias present in the study design accounts for the low prevalence of karyotype abnormalities in males.

Karyotype analysis is a necessary component of RIF patient evaluation and diagnosis. Preimplantation genetic diagnosis (PGD) is frequently indicated in cases of chromosomal abnormality. Oocyte or sperm donation are prohibited by law and religious custom in our country. PGD remains the only safe treatment option for infertile couples who wish to conceive a child that shares all genetic content with the parents.

The effect of heterochromatin region polymorphisms on reproductive health has been investigated in recent years. Although these polymorphic changes do not cause known genetic disease, they are likely to contribute to reproductive failure and recurrent pregnancy loss. [11]

Together with karyotype anomalies, chromosomal polymorphism are observed more frequently among patients with infertility. Chromosomal polymorphisms may influence both male and female infertility, although the remains to be clarified in the literature.

Abnormal spermatogenesis is frequently a consequence of chromosomal polymorphisms that is detrimental to IVF/ICSI-ET treatment. Y chromosome polymorphism is prevalent among infertile men and is often associated with severe oligospermia. [12] Previous studies have demonstrated that male chromosomal polymorphisms are associated with poor IVF-ICSI outcomes, including reduced fertilization rate. [13]

Earlier studies [14] indicated that chromosomal polymorphisms were not associated with negative IVF outcomes. However, female chromosomal polymorphisms have been associated with cleavage rate in IVF procedures, although the mechanism remains unclear. [13]

Chromosomal variation are of potential importance in all cytogenetic analyses and may play a significant role in persistent infertility. [15]

  Conclusion Top

Chromosome analysis is necessary in couples with recurrent pregnancy failure following the implementation of assisted reproductive techniques. By providing genetic counseling to couples, the patients who may benefit from preimplantation genetic diagnosis can be directed appropriately. Moreover, as family history and other clinical findings are considered, further genetic testing may be useful in some cases.

In addition, chromosomal polymorphic variations may influence fertility. Chromosomal polymorphic variations detected in karyotype analysis should also be recorded. Further studies for the relationship between chromosomal polymorphism and infertility are necessary.

  References Top

Ly KD, Aziz N, Safi J, Agarwal A. Evidence-based management of infertile couples with repeated implantation failure following IVF. Curr Womens Health Rev 2010;6:200-18.  Back to cited text no. 1
Macklin VM. Ovarian stimulation and ovulation induction. Fertil Steril 2001;75:88-91.  Back to cited text no. 2
ASRM/SART Registry. Assisted reproductive technology in the United States: Results generated from the American Society for Reproductive Medicine/Society for Assisted Reproductive Technology Registry. Fertil Steril 2000;72:641-54.  Back to cited text no. 3
Nygren KG, Andersen AN. The European IVF-monitoring programme (EIM). Assisted reproductive technology in Europe, 1998. Results generated from European Registers by ESHRE. European Society of Human Reproduction and Embryology (ESHRE). Hum Reprod 2001;16:2459-71.  Back to cited text no. 4
Laverge H, De Sutter P, Verschraegen-Spae MR, De Paepe A, Dhont M. Triple colour fluorescent in-situ hybridization for chromosomes X, Y and 1 on spare human embryos. Hum Reprod 1997;12:809-14.  Back to cited text no. 5
Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, et al. Success of intracyto-plasmic sperm injection in couples with male and/or female chromosome aberrations. Hum Reprod 1997;12:2635-40.  Back to cited text no. 6
Margalioth EJ, Ben-Chetrit A, Gal M, Eldar-Geva T. investigation and treatment of repeated implantation failure following IVF-ET. Hum Heprod 2006;21:3036-43.  Back to cited text no. 7
Stern C, Pertile M, Norris H, Hale L, Baker HW. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod 1999;14:2097-101.  Back to cited text no. 8
Raziel A, Friedler S, Schachter M, Kasterstein E, Strassburger D, Ron-El R. increased frequency of female partner chromosomal abnormalities in patients with high-order implantation failure after in vitro fertilization. Fertil Steril 2002;78:515-9.  Back to cited text no. 9
Mau-Holzmann UA. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res 2005;111:317-36.  Back to cited text no. 10
Beyhan D, Mesut Y, Muhsin Ö, Oğuz Ç, Turgay Ş, Güney B, et al. Is recurrent abortion an indication for subtelomeric region analysis? Turk Klinikleri J Med Sci 2010;30:1465-8.  Back to cited text no. 11
Guo T, Qin Y, Gao X, Chen H, Li G, Ma J, et al. The role of male chromosomal polymorphism played in spermatogenesis and the outcome of IVF/ICSI-ET treatment. Int J Androl 2012;35:802-9.  Back to cited text no. 12
Liang J, Zhang Y, Yu Y, Sun W, Jing J, Liu R. Effect of chromosomal polymorphisms of different genders on fertilization rate of fresh IVF-ICSI embryo transfer cycles. Reprod Biomed Online 2014;29:436-44.  Back to cited text no. 13
Hong Y, Zhou YW, Tao J, Wang SX, Zhao XM. Do polymorphic variants of chromosomes affect the outcome of in vitro fertilization and embryo transfer treatment? Hum Reprod 2011;26:933-40.  Back to cited text no. 14
Madon PF, Athalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online 2005;11:726-32.  Back to cited text no. 15


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