Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

Dong, Yaping; Li, L.L.; Wang, R.X.; Yu, Xiaowei; Yun, Xu; Liu, R.Z.

doi:10.4238/2014.january.17.4

Cited by 12 publications

(10 citation statements)

References 19 publications

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“…Similarly, previous reports have indicated a correlation between the breakpoints at 4q13, 4q21, 4q25, 4q32, and 4q35 with recurrent abortions and reproductive failures [10,11]. A study in 69 patients by [16].…”

Section: Resultssupporting

confidence: 56%

An Inherited Balanced Translocation Between Chromosomes 4 and 6 in Recurrent Pregnancy Loss: A Case Report

Srilekha

Jyothy

Sujatha

et al. 2019

JFM

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Recurrent pregnancy loss is an important reproductive issue with a heterogeneous etiology where two or more consecutive abortions occur before 20 weeks of gestation. Approximately 15% of all clinically recognized pregnancies result in miscarriage with an incidence of 1 in 300 cases. Couples, who experience repeated pregnancy loss before three months of gestation, mostly have fetuses with chromosomal aneuploids. A non-consanguineous couple with a married life of 4 years was referred to the Institute with a clinical history of three first trimester abortions. Karyotype analysis revealed a balanced autosomal translocation between chromosomes 4 and 6 with 46, XX, t (4;6)(q35; q22) karyotype in the female and normal 46, XY in the male partner. Therefore, the siblings and the couple were suggested for extended genetic counseling. Interestingly, similar translocation was seen in her father and three sisters, whereas her mother and elder sister showed a normal chromosomal constitution, indicating the paternal inheritance.

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Section: Resultssupporting

confidence: 56%

An Inherited Balanced Translocation Between Chromosomes 4 and 6 in Recurrent Pregnancy Loss: A Case Report

Srilekha

Jyothy

Sujatha

et al. 2019

JFM

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“…The chance for their offspring to have an unbalanced translocation can be minimized [6,11,12]. When chromosomal abnormality carriers and non-carriers were compared, no significant difference was observed between them in the number of live births [7]. This study confirms that apart from chromosomal defects, there are other aetiologies to RPL.…”

Section: Structural Chromosomal Abnormalitiessupporting

confidence: 64%

“…Numerical chromosomal abnormalities in parents, resulting in abortion are not as common as structural abnormalities but of them, aneuploidies involving the X chromosome are the most commonly observed [6]. In a study conducted in China, only 0.18% of the 137 RPL carriers had chromosomal abnormalities whereas balanced translocations dominated [7]. A comparative study was done between spontaneous abortion (SA) and RPL using the aborted foetuses and it was found that the number of chromosomal abnormalities were significantly higher in RPL than in SA.…”

Section: Aneuploidymentioning

confidence: 99%

Genetic Factors Associated With Recurrent Pregnancy Loss

Kar¹,

B²

2017

OGIJ

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The aetiology behind recurrent pregnancy loss is unknown in about 50% of cases despite having a lot of known factors. Two to five percent of RPL occur due to a genetic cause. A structural or a numerical abnormality in the chromosomes of the parents or in the foetus can result in pregnancy loss. Several genes like those that are involved in angiogenesis, oxidative stress, clotting and inflammation have also been associated with RPL. Recent advances such as the use of microarrays and next generation sequencing for detecting the genetic abnormalities in RPL patients, in the aborted foetuses and in the embryos in the form of preimplantation genetic screening can help to better diagnose and treat RPL patients.

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“…Guo et al (2012) reported that chromosomal polymorphisms seem to have deleterious effects on spermatogenesis, contributing to male infertility. Dong et al (2014) reported that chromosomal polymorphisms do not have significantly lower live birth rates than non-carrier couples. For male translocation carriers, the success rates of natural pregnancies and live birth rates range from 30 to 70% (Ozawa et al, 2008;Kochhar and Ghosh, 2013;Flynn et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

Guo

Wang

et al. 2016

Genet. Mol. Res.

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Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support. Cytogenetic analysis was performed using cultured peripheral blood lymphocytes and G-banding. The detection rate of chromosomal abnormalities was 10.3% in pre-pregnancy counseled males, with polymorphisms being most common, followed by 47,XXY and balanced translocation. Follow-up of 170 carriers with normozoospermia, after 3 years, showed that 94.7% of the cases resulted in live births. In the carriers of polymorphisms, balanced translocation, inv(9), Robertsonian translocation, inversion, and 47,XYY, live birth rates were 96.8, 85.7, 100, 83.3, 75, and 100%, respectively. Follow-up of 54 carriers with oligozoospermia or azoospermia, after 3 years, showed that 14.8% of the cases resulted in live births. In the carriers of 47,XXY with severe oligozoospermia or azoospermia, 80 or 5.9% of the cases resulted in live births, respectively. Therefore, timely psychological support would be beneficial and multidisciplinary approach should be preferentially considered for the management of individuals with chromosomal abnormalities.

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Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

Cited by 12 publications

References 19 publications

An Inherited Balanced Translocation Between Chromosomes 4 and 6 in Recurrent Pregnancy Loss: A Case Report

An Inherited Balanced Translocation Between Chromosomes 4 and 6 in Recurrent Pregnancy Loss: A Case Report

Genetic Factors Associated With Recurrent Pregnancy Loss

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

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