Predictive value of sperm-FISH analysis on the outcome of preimplantation genetic diagnosis (PGD) for a pericentric inversion inv5(p15.3q11.2) carrier

Bernicot, Izabel; Dechanet, C.; Mace, A.; Hédon, B.; Hamamah, S.; Pellestor, Franck; Anahory, T.

doi:10.1093/humrep/deq101

Cited by 10 publications

(7 citation statements)

References 30 publications

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“…Preimplantation genetic diagnosis (PGD) based on fluorescence in situ hybridization (FISH) (Conn et al 1998, Van Assche et al 1999, Coonen et al 2000, Alves et al 2002, Otani et al 2006, Bernicot et al 2010, Bernicot et al 2012, Ko et al 2013 and microarray-based profiling , Fiorentino et al 2011, Treff et al 2011, van Uum et al 2012, Huang et al 2013, Tan et al 2013 are widely used to select normal/balanced embryos for CR carriers to transfer.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Gui

Yao

et al. 2016

Reproduction

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Balanced chromosomal rearrangements (CRs) are among the most common genetic abnormalities in humans. In the present study, we have investigated the degree of consistency between the chromosomal composition of the blastocyst inner cell mass (ICM) and trophectoderm (TE) in carriers with balanced CR, which has not been previously addressed. As a secondary aim, we have also evaluated the validity of cleavage-stage preimplantation genetic diagnosis (PGD) based on fluorescence in situ hybridization (FISH) of blastocysts from CR carriers. Blastocyst ICM and TE were screened for chromosomal aneuploidy and imbalance of CR-associated chromosomes based on whole-genome copy number variation analysis by low-coverage next-generation sequencing (NGS) following single-cell wholegenome amplification by multiple annealing and looping-based amplification cycling. The NGS results were analyzed without knowledge of cleavage-stage FISH results. NGS results for blastocyst ICM and TE from CR carriers were 86.49% (32/37) consistent. Of the 1702 (37!46) chromosomes examined, 99.47% (1693/1702) showed consistency. However, only 40.0% (18/45) of all embryos had consistent results for chromosomes involved in CR, as determined by blastocyst NGS and cleavage-stage FISH. Of the 85 CR-affected chromosomes analyzed by FISH, 37.65% (32/85) were incongruous with NGS results, with 87.5% (28/32) showing imbalanced composition by FISH but balanced composition by NGS. These results indicate that chromosomal composition of blastocyst ICM and TE in balanced CR carriers is highly consistent, and that PGD based on cleavage-stage FISH is inaccurate; therefore, using blastocyst TE biopsies for NGS-based PGD is recommended for identifying chromosomal imbalance in embryos from balanced CR carriers.

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Section: Introductionmentioning

confidence: 99%

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Gui

Yao

et al. 2016

Reproduction

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“…Preimplantation genetic testing for structural rearrangements (PGT-SR) is performed only when a patient or her partner is known to carry a balanced rearrangement, otherwise, routine preimplantation genetic testing for aneuploidy (PGT-A) is performed (9)(10)(11)(12)(13)(14). Approximately 1/500 individuals carry a balanced chromosomal rearrangement, and this frequency is approximately 1/100 in the in vitro fertilization (IVF) patient population (5,(15)(16)(17)(18).…”

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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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“…However, there is no loss of genetic material, and inversions therefore do not usually cause abnormalities in carriers, whereas abnormal gametes formed by meiosis may lead to gestational infertility in heterozygotes [2]. In the current study, 75 % (27/37) infertile men with chromosomal inversions had residual spermatogenesis.…”

Section: Discussionmentioning

confidence: 47%

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

Zhang

Wang

et al. 2012

J Assist Reprod Genet

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Purpose To detect incidences and the types of chromosomal abnormalities in Chinese men with infertility and determine chromosomal factors association with various phenotypes. Methods Semen analysis and karyotype analysis by G-banding were carried out in 4,659 idiopathic infertile males; additionally, multiplex PCR using nine specific sequence-tagged sites (STSs) was used to detect azoospermia factor (AZF) microdeletions in 412 patients with Y chromosomal abnormalities. Results Male infertility was divided into pregestational infertility, characterized by failure to produce a fertilized ovum, and gestational infertility, characterized by embryo loss after fertilization. The former can result from azoospermia, oligozoospermia or oligoasthenozoospermia syndrome, while the latter is associated with developmental early pregnancy loss, habitual miscarriage and stillbirth. Among 4,659 male patients, 412 (8.84 %) showed abnormal chromosomal karyotypes, including 314 (6.74 %) with sex chromosomal abnormalities and 98 (2.10 %) with autosomal abnormalities. The prevalences of numerical and structural abnormalities among patients with chromosomal abnormalities were 259/412 (62.86 %) and 153/412 (37.14 %), respectively. Furthermore, structural sex chromosomal abnormalities were represented by various phenotypic profiles (46,XX, 47,XYY and 45,X/46, XY), and a prevalence of AZF microdeletions of 19/79 (24.05 %). AZF microdeletions were highly associated with Y chromosomal abnormalities (P=0.018). ConclusionVarious chromosomal abnormalities that result in male infertility could affect spermatogenesis or embryonic development at different levels. Sex chromosomal and autosomal abnormalities were highly associated with pregestational and gestational infertility, respectively. AZF microdeletions may play an important role in lowering the stability of the Y chromosome.

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Predictive value of sperm-FISH analysis on the outcome of preimplantation genetic diagnosis (PGD) for a pericentric inversion inv5(p15.3q11.2) carrier

Abstract: This study demonstrated the value of sperm-FISH analysis in providing reproductive genetic counseling for PI carriers. Our study also highlights the clinical relevance of performing PGD instead of prenatal diagnosis.

Cited by 10 publications

References 30 publications

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

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

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

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