Natural selection between day 3 and day 5/6 PGD embryos in couples with reciprocal or Robertsonian translocations

Beyer, C; Willats, Elissa

doi:10.1007/s10815-017-1009-0

Cited by 22 publications

(24 citation statements)

References 34 publications

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Section: Discussionsupporting

confidence: 88%

“…These results correlate with Beyer et al, 2017 who reported an increase in the percentage of normal embryos between D3 embryos (22.3%) and D5 embryos (53.1%). 75 These results are also in agreement with Michal Dekel-Naftali et al 2013 who reported that while on 'Day 3ʹ only 31% of the embryos were detected as normal, on 'Day 5-6ʹ, 44% of the embryos were classified as normal. 76 These findings confirm the results of Fragouli et al, 2013 and McCoy et al, 2015 that documented a strong natural selection process against chromosomal abnormalities during early embryogenesis, occurring specifically between day 3 and day 5/6 of development and is presumably due to impaired viability.…”

Section: Dovepresssupporting

confidence: 89%

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The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos

Nayel¹,

Mahrous²,

Khalifa³

et al. 2021

TACG

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Purpose The aim of this study is to evaluate the effect of abnormal semen morphology on the frequency of sex chromosomal abnormalities in embryos obtained by ICSI, which represents the first to be studied in Egyptian population. Methods Forty-two couples suffering from male infertility due to teratozoospermia were divided into two groups: patients with severe and moderate teratozoospermia (group A and B, respectively). All involved couples were subjected to careful history taking and had a normal clinical examination and karyotype. Females were subjected to hormonal assays, pelvic ultrasound, hysterosalpingography and yielded normal results, while male partners were subjected to computerized semen analysis. Preimplantation genetic diagnosis was performed for all suitably developed embryos including embryo biopsy, fixation of biopsied cells and fluorescent in situ hybridization (FISH) analysis. Results Couples included in the two groups were found to be homogenous in terms of age of both partners and duration of infertility. Interpretation of FISH results was performed by evaluation of embryos’ chromosomal constitution as regards abnormalities in chromosomes X, Y and 18. Twenty-seven embryos (48.2%) were found chromosomally abnormal in group A, while only 14 embryos (25.0%) were found chromosomally abnormal in group B. Aneuploidies involved only sex chromosomes were tripled in group A embryos when compared to their frequency in group B embryos (26.8% and 8.3%, respectively) with statistically significant difference between the two groups (p=0.002). Monosomies were the most common type of aneuploidy and were significantly higher in group A (14.3%) when compared to group B (3.6%) (p=0.047). Embryos with mosaic abnormalities were more common in group A (12.5%) when compared to group B (3.6%), however not statistically significantly different (p= 0.162). A significant difference between the two studied groups as regards the total number of potentially viable chromosomal abnormalities detected and the potentially viable sex chromosomal aneuploidies detected (p<0.001 and p=0.002), respectively. Conclusion The cases with severe teratozoospermia undergoing ICSI treatment can display a higher rate of sex chromosome aneuploidies in their embryos (threefold) than cases with moderate teratozoospermia.

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Section: Discussionsupporting

confidence: 88%

Section: Dovepresssupporting

confidence: 89%

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos

Nayel¹,

Mahrous²,

Khalifa³

et al. 2021

TACG

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“…Previous studies have aimed to characterize the type and frequency of the various modes of segregation observed through PGT from known translocation carriers (9,(23)(24)(25)(26)(27)(28).…”

mentioning

confidence: 99%

Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion

Snider¹,

Darvin²,

Spor³

et al. 2021

F&S Reports

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Objective: To define criteria for determining when preimplantation genetic testing for aneuploidy (PGT-A) results are suggestive of a potential balanced chromosomal rearrangement in the egg or sperm source and warrant karyotyping. Design: Performance evaluation of criteria developed to assess PGT-A results for patterns of imbalances suggestive of a balanced chromosomal rearrangement in the egg or sperm source. Setting: A single PGT-A laboratory and multiple in vitro fertilization centers. Patients: Reproductive couples who underwent routine PGT-A testing. Interventions: Karyotyping of reproductive couples for whom patterns of imbalances observed in PGT-A results suggested a balanced chromosomal rearrangement in the egg or sperm source. Main Outcome Measures: Correct or incorrect flagging of predicted translocation in either the egg or sperm source based on chromosome analysis. Results: Proposed criteria correctly predicted a balanced reciprocal translocation in 97% of cases (n ¼ 33), a (13;14) Robertsonian translocation in all cases (n ¼ 3), and an inversion in all cases (n ¼ 2). Other criteria evaluated were determined to be ineffective because of relatively low occurrences that met the criteria and/or low predictive value. Conclusions: Our results showed that the proposed criteria were effective for evaluating patterns of imbalances observed in PGT-A results suggestive of a potential chromosomal rearrangement in the egg or sperm source. Our proposed criteria can be employed by clinicians in the in vitro fertilization setting in combination with a patient's reproductive history to identify PGT-A patients who are likely carriers of balanced chromosomal rearrangements. (Fertil Steril Rep Ò 2021;2:72-9. Ó2020 by American Society for Reproductive Medicine.

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“…Based on the analysis of embryos from carrier parents, the number of unbalanced karyotypes declines rapidly from 3 to 5/6 days. 33,34 By the time that prenatal diagnosis is performed (late first trimester or second trimester), the risk for UPD when a fetus has a non-homologous Robertsonian translocation appears to be only 0.6%, or less. 35,36 These data are therefore also consistent with the early elimination of unbalanced karyotypes though mechanisms that are not substantially driven by rescue and generation of high numbers of UPDs.…”

Section: Discussionmentioning

confidence: 99%

Uniparental disomy: Origin, frequency, and clinical significance

Benn

2021

Prenatal Diagnosis

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Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent. There can be multiple mechanisms that lead to UPD; these are reviewed in the context of contemporary views on the mechanism leading to aneuploidy. Recent studies indicate that UPD is rare in an apparently healthy population and also rare in spontaneous abortion tissues. The most common type of UPD is a maternal heterodisomy (both maternal allele sets present). Isodisomy (a duplicated single set of alleles) or segmental loss of heterozygosity is sometimes encountered in SNP‐based microarray referrals. Decisions regarding the most appropriate follow‐up testing should consider the possibility of consanguinity (that will generally involve multiple regions), an imprinted gene disorder (chromosomes 6, 7, 11, 14, 15, 20), expression of an autosomal recessive disorder, and an occult aneuploid cell line that may be confined to the placenta. Upd(16)mat, per se, does not appear to be associated with an abnormal phenotype. UPD provides an insight into the history of early chromosome segregation error and understanding the rates and fate of these events are of key importance in the provision of fertility management and prenatal healthcare.

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Natural selection between day 3 and day 5/6 PGD embryos in couples with reciprocal or Robertsonian translocations

Cited by 22 publications

References 34 publications

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos

Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion

Uniparental disomy: Origin, frequency, and clinical significance

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