PGT-SR: the red-herring and the siren; interchromosomal effect and screening for unrelated aneuploidy

Scriven, Paul N.

doi:10.1007/s10815-021-02152-x

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…After IVF, PGT-SR is available to evaluate human embryos from parents with the most common type of structural rearrangement, a Robertsonian or reciprocal translocation [44]. The priority in using PGT-SR is to give couples with chromosomal rearrangements a similar opportunity to have a child with a normal karyotype [45]. This test applies fluorescence in situ hybridization (FISH), microarray comparative genome hybridization (aCGH), and NGS [46].…”

Section: Pgt For Structural Rearrangementsmentioning

confidence: 99%

In vitro fertilization as an option for couples with genetic disorders

Christianti,

Legiran

2024

Clin Exp Reprod Med

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Errors in human DNA may cause genetic disorders. Technological developments have raised hopes for reducing the risks of genetic inheritance among married couples who have a history of such disorders. Among the developments in reproductive health technology that reduce those risks is the in vitro fertilization (IVF) process. This review aimed to describe the current strategies using IVF and preimplantation genetic testing (PGT), which would be effective for couples with genetic disorders to have healthy offspring. The literature review included full-text, open-access research articles from ScienceDirect, PubMed, and Google Scholar that were published between 2013 and 2023, with 65 articles obtained from various journals. The keywords were “in vitro fertilization,” “reproductive genetic disorders,” “PGT-A,” “PGT-M,” “PGT-SR,” and “oocyte donor.” A total of 46 articles were selected as the most relevant to the review topic, and the results show that the IVF process can be an option for couples with a history of genetic disorders. Several additional procedures can be performed following IVF, such as oocyte donation and PGT, to help couples who want to have offspring without transmitting their genetic disorders. IVF can be an option for couples who have or carry genetic disorders. With IVF, couples can undertake several procedures such as oocyte donation and PGT for aneuploidy, monogenic disorders, or structural rearrangement.

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Section: Pgt For Structural Rearrangementsmentioning

confidence: 99%

In vitro fertilization as an option for couples with genetic disorders

Christianti,

Legiran

2024

Clin Exp Reprod Med

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PGT for structural chromosomal rearrangements in 300 couples reveals specific risk factors but an interchromosomal effect is unlikely

Oğur

Kahraman

et al. 2023

Reproductive BioMedicine Online

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PGT-SR: A Comprehensive Overview and a Requiem for the Interchromosomal Effect

Griffin

Oğur

2023

DNA

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Preimplantation genetic testing for structural rearrangements (PGT-SR) was one of the first applications of PGT, with initial cases being worked up in the Delhanty lab. It is the least well-known of the various forms of PGT but nonetheless provides effective treatment for many carrier couples. Structural chromosomal rearrangements (SRs) lead to infertility, repeated implantation failure, pregnancy loss, and congenitally affected children, despite the balanced parent carrier having no obvious phenotype. A high risk of generating chromosomally unbalanced gametes and embryos is the rationale for PGT-SR, aiming to select for those that are chromosomally normal, or at least balanced like the carrier parent. PGT-SR largely uses the same technology as PGT-A, i.e., initially FISH, superseded by array CGH, SNP arrays, Karyomapping, and, most recently, next-generation sequencing (NGS). Trophectoderm biopsy is now the most widely used sampling approach of all PGT variants, though there are prospects for non-invasive methods. In PGT-SR, the most significant limiting factor is the availability of normal or balanced embryo(s) for transfer. Factors directly affecting this are rearrangement type, chromosomes involved, and sex of the carrier parent. De novo aneuploidy, especially for older mothers, is a common limiting factor. PGT-SR studies provide a wealth of information, much of which can be useful to genetic counselors and the patients they treat. It is applicable in the fundamental study of basic chromosomal biology, in particular the purported existence of an interchromosomal effect (ICE). An ICE means essentially that the existence of one chromosomal defect (e.g., brought about by malsegregation of translocation chromosomes) can perpetuate the existence of others (e.g., de novo aneuploidy). Recent large cohort studies of PGT-SR patients seem, however, to have laid this notion to rest, at least for human embryonic development. Unless new evidence comes to light, this comprehensive review should serve as a requiem.

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PGT-SR: the red-herring and the siren; interchromosomal effect and screening for unrelated aneuploidy

Cited by 3 publications

References 9 publications

In vitro fertilization as an option for couples with genetic disorders

In vitro fertilization as an option for couples with genetic disorders

PGT for structural chromosomal rearrangements in 300 couples reveals specific risk factors but an interchromosomal effect is unlikely

PGT-SR: A Comprehensive Overview and a Requiem for the Interchromosomal Effect

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