Clinical outcomes for couples containing a reciprocal chromosome translocation carrier without preimplantation genetic diagnosis

Yin, Bo; Zhu, Yuanchang; Wu, Tong; Shen, Shuqiu; Zeng, Yong

doi:10.1002/ijgo.12062

Cited by 8 publications

(3 citation statements)

References 26 publications

(50 reference statements)

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“…As chromosome abnormalities are a known cause of infertility, some differences regarding success rate might be expected between groups. However, studies reporting success rates of ICSI among couples with chromosomal abnormalities also found no significant differences from a control group [23,24]. This might be explained by the fact that ovarian stimulation, required to perform any ART technique, may extend the process of natural selection thus increasing the rejection of abnormal oocytes and the probability of producing a normal embryo [25].…”

Section: Discussionmentioning

confidence: 99%

Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities

Jesus

Silva-Soares

Silva

et al. 2019

J Assist Reprod Genet

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Purpose Infertility is estimated to affect 15% of couples, having chromosome abnormalities an important role in its etiology. The main objective of this work was to access the reproductive success of ART in infertile couples with chromosomal abnormalities comparing to a control group with normal karyotype. Methods A 7-year retrospective karyotype analysis of infertile couples was done. Data regarding type of infertility, couples' ages, ART performed, and their reproductive success were obtained. Adjusted odds ratio (OR) were used to estimate magnitude of association between the reproductive success and the different groups. Results We found a prevalence of 7.83% of chromosome abnormalities in our population (233 couples out of 2989). Chromosomal anomalies were found in 82 men (34.75%) and 154 women (65.25%), with low-grade mosaicism being the most prevalent (50.85%), followed by autosomal translocations (17.37%) and sex chromosomes abnormalities (13.56%). Only 2359 couples were treated with ART. There was a non-significant lower reproductive success rate in the cases (OR = 0.899, p = 0.530) with IVF providing the higher success rate. In general, female carriers of chromosome anomalies had a higher success rate, although not significant. Conclusion Although the differences regarding success rate between groups were not found statistically significant, we still advocate that cytogenetic analysis should be performed routinely in all infertile couples namely before ART. This might help deciding the best treatment options including Preimplantation Genetic Testing for aneuploidies or structural rearrangements and minimize the risk of transmission of anomalies to the offspring.

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Section: Discussionmentioning

confidence: 99%

Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities

Jesus

Silva-Soares

Silva

et al. 2019

J Assist Reprod Genet

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“…The associated phenotype will depend on the exact region of the chromosome involved, which may result in mental retardation, malformations, and death of the fetus. When a translocation is detected in one of the spouses, the couple may choose to order preimplantation genetic screening of the embryos, embryo biopsy, or PGT to rule out the presence of the translocation in the embryos (Asero et al, 2014;Yin et al, 2017).…”

Section: Robertsonian and Reciprocal Translocationsmentioning

confidence: 99%

Genetics in human reproduction

Rodrigues

Polisseni

Pannain

et al. 2020

JBRA Assisted Reproduction

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Approximately 50% of the causes of infertility are of genetic origin. The objective of this study was to analyze the role of genetics in human reproduction by reviewing the main genetic causes of infertility and the use of preimplantation genetic testing in Brazil. This literature review comprised articles in English and Portuguese published on databases PubMed, Scielo, and Bireme from 1990 to 2019. Randomized clinical trials and specialized guidelines were given preference whenever possible. Genetic cause can be traced back to up to 20% of the cases of severe azoospermia or oligozoospermia. Subjects with these conditions are good candidates for genetic screening. In women, genetic causes of infertility (fragile X syndrome, X-trisomy, and Turner's syndrome, some of which diagnosed with karyotyping) culminate with premature ovarian failure. Genetic screening helps advise couples of the risk of experiencing early reproductive capacity loss and of the chances of their offspring carrying genetic disorders. In addition to enhancing the prevention of serious diseases in the offspring of couples at increased risk of genetic diseases, preimplantation genetic screening improves the success rates of assisted reproduction procedures by allowing the selection of euploid embryos for transfer. The interface between genetics and human reproduction has gained significant relevance, but discussions are still needed on which procedures are clinically and ethically acceptable and how they should be regulated.

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“…Patients with a balanced chromosomal rearrangement usually present a normal phenotype but a higher risk of producing abnormal gametes and embryos when compared to non-carriers ( Campana et al , 1986 ; Stern et al , 1999 ; Lledó et al , 2010 ). Some unbalanced chromosomal rearrangements are closely related to severe congenital diseases such as mental retardation, malformations, and fetal death, but the phenotype will depend on the abnormal chromosomal segment involved ( Yin et al , 2017 ). In approximately 2-5% of couples with recurrent miscarriage, one of the partners is affected by a chromosomal translocation ( Brezina et al , 2012 ).…”

Section: Introductionmentioning

confidence: 99%

Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A)

Ceschin¹,

Ali²,

Carvalho³

et al. 2022

JBRA

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In general population, it is estimated that 1/560 -1/1100 of the individuals are carriers of a balanced structural alteration and, in general, do not present an abnormal phenotype. For patients who have balanced rearrangements, a family planning alternative is to perform an In Vitro Fertilization (IVF) cycle with the embryonic analysis by Preimplantation Genetic Testing for Chromosomal Structural Rearrangements (PGT-SR). This test aims to reduce the time to obtain a healthy chromosomally pregnancy, to minimize the risk of miscarriage and a live birth with a chromosomopathy. The present work reports a case in which the couple had a history of implantation failure and biochemical pregnancy. They had not performed the karyotype exam to verify the parents' chromosomal content. After two embryo transfers without achieving pregnancy, the couple was directed to the Preimplantation Genetic Testing for Aneuploidies (PGT-A). The result presented in PGT-A in the couple's first cycle using the embryo selection technique showed recurrent segmental aneuploidies the trophectoderm biopsies. The couple was given genetic counselling, and they decided to investigate their karyotype, which showed a balanced chromosomal rearrangement in one of the parents. With this investigation and genetic counselling, it was possible to apply the correct embryonic analysis strategy, which contributed to a healthy pregnancy and birth with a living child.

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Clinical outcomes for couples containing a reciprocal chromosome translocation carrier without preimplantation genetic diagnosis

Abstract: The clinical outcomes for RCT carriers were acceptable after IVF/ICSI without performing preimplantation genetic diagnosis, indicating that this approach might comprise a feasible alternative fertility treatment for RCT carriers.

Cited by 8 publications

References 26 publications

Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities

Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities

Genetics in human reproduction

Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A)

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