Polymorphic variants on chromosomes probably play a significant role in infertility

Madon, Prochi F.; Athalye, Arundhati S.; Parikh, Firuza R.

doi:10.1016/s1472-6483(10)61691-4

Cited by 112 publications

(130 citation statements)

References 41 publications

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“…In females, chromosome heteromorphism frequency was 5% and in males 7.9%. This finding was consistent with the previous reports regarding chromosome heteromorphisms as abnormalities in infertile cases [4,13].…”

Section: Discussionsupporting

confidence: 94%

“…Chromosome analyses have been studied in large groups of infertile patients in recent years [3][4][5][11][12][13]. In some of these studies, chromosome heteromorphisms were reported to have a higher frequency than the normal population and were regarded as abnormalities [4,5,13].…”

Section: Discussionmentioning

confidence: 99%

“…In some of these studies, chromosome heteromorphisms were reported to have a higher frequency than the normal population and were regarded as abnormalities [4,5,13].…”

Section: Discussionmentioning

confidence: 99%

“…We believe analyses at the molecular level will reveal mechanisms in more detail as following molecular genetic studies done in chromosome variants, the heterochromatin has been regarded to have more crucial cellular roles than previously thought. Thus, chromosome variants should not be ignored by cytogeneticists and clinicians, for contributory reasons that may not have been realized yet [12,13,16].…”

Section: Discussionmentioning

confidence: 99%

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Chromosome heteromorphisms: an impact on infertility

Şahin

Yılmaz

Yüreğir

et al. 2008

J Assist Reprod Genet

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Introduction Cytogenetic heteromorphisms are described as heritable variations at specific chromosomal regions without a proven impact on phenotype. Materials and methods We compared the presence of chromosome heteromorphisms in the karyotypes of two patient groups. The first group of patients consisted of 276 individuals of 138 infertile couples. The second group, consisted of 1,130 amniocentesis samples. This group was considered to be a sample of the fertile population, as the fetus being karyotyped is the result of a spontaneous pregnancy. Fetal karyotyping was made due to the standard indications for prenatal diagnosis, such as abnormal maternal serum screening results. Results and discussion Eighteen infertile patients (6.52%) and twenty fetuses (1.77%) were found to have chromosome heteromorphisms. The difference between the two groups was statistically significant (p<0.0001). ConclusionThese results are consistent with other similar studies that suggest the yet undefined relationship between chromosome heteromorphisms and infertility.

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Section: Discussionsupporting

confidence: 94%

Section: Discussionmentioning

confidence: 99%

“…In some of these studies, chromosome heteromorphisms were reported to have a higher frequency than the normal population and were regarded as abnormalities [4,5,13].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Chromosome heteromorphisms: an impact on infertility

Şahin

Yılmaz

Yüreğir

et al. 2008

J Assist Reprod Genet

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“…They theorized that Yqh+ heteromorphisms may be related to clinical abnormalities, because large Y chromosome heterochromatin represents excessive duplication of DNA that may in turn be related to errors in mitosis, gene regulation or cell differentiation, ultimately leading to spontaneous abortion. Madon et al karyotyped 842 individuals attending an IVF clinic due to primary infertility (Group A) or repeated miscarriages (Group B), found polymorphic variants in 28.8% of the males and 17.2% of the females, and suggested gamete donors with chromosome variants should be screened out to enhance take-home baby rate [39]. Interestingly results extracted from this same article to compare Yqh+ incidence in two groups, revealed values of 7.7% (20/260) for Group A, and 8.1% (16/198) for Group B.…”

Section: Discussionmentioning

confidence: 99%

Long Y chromosome is not a fetal loss risk

Nie

2010

J Assist Reprod Genet

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Purpose To assess the long Y chromosome genetic effect on human pregnancy outcomes. Methods We studied all records of pregnancies by human sperm donors after artificial insemination or in vitro fertilization at the Reproductive and Genetic Hospital of Citic-Xiangya. Fetal losses were compared from two groups of sperm donors: the observation group (with long Y chromosome) and the control group (without long Y chromosome). Results 2885 pregnancies were achieved with donor sperm by artificial insemination and 1746 by in vitro fertilization. The rates of fetal loss, congenital malformation and donor fecundity in the observation group after both assisted reproductive technique were the same as for the control group. Conclusions A long Y chromosome may therefore be considered as a normal variant.

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Meta‐analysis of the association between chromosomal polymorphisms and outcomes of embryo transfer following in vitro fertilization and/or intracytoplasmic sperm injection

Yin

Chen

et al. 2018

Intl J Gynecology & Obste

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Background The outcomes of in vitro fertilization and/or intracytoplasmic sperm injection (IVF/ICSI) are contradictory among individuals with chromosomal polymorphisms. Objectives To assess whether chromosomal polymorphisms affect the outcomes of assisted reproductive technologies. Search strategy Four online databases were searched from inception to September 18, 2017, using terms including “chromosomal polymorphisms” and “In vitro fertilization.” Selection criteria The meta‐analysis included studies published in any language on IVF/ICSI outcomes in relation to male and/or female chromosomal polymorphisms (n=8). Data collection and analysis Data were extracted using a predesigned form. The IVF/ICSI outcomes were then pooled and their heterogeneity assessed. Main results Male chromosomal polymorphisms showed lowered values for fertilization rate (odds ratio [OR] 1.29, 95% confidence interval [CI] 1.09–1.54; P=0.004); cleavage rate (OR 2.65, 95% CI 1.88–3.72; P<0.001); good quality embryos rate (OR 1.26, 95% CI 1.15–1.39; P<0.001); and live birth rate (OR 1.42, 95% CI 1.10–1.83; P=0.007). By contrast, early spontaneous abortion rate, clinical pregnancy rate, and ongoing pregnancy rate were not affected in this group. No relationship was found between IVF/ICSI outcomes and female chromosomal polymorphisms. Conclusions Male, but not female, chromosomal polymorphisms were associated with lowered values for some outcomes of IVF/ICSI.

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Polymorphic variants on chromosomes probably play a significant role in infertility

Cited by 112 publications

References 41 publications

Chromosome heteromorphisms: an impact on infertility

Chromosome heteromorphisms: an impact on infertility

Long Y chromosome is not a fetal loss risk

Meta‐analysis of the association between chromosomal polymorphisms and outcomes of embryo transfer following in vitro fertilization and/or intracytoplasmic sperm injection

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