Preimplantation genetic testing in assisted reproduction technology

Fesahat, Farzaneh; Montazeri, Fateme; Hoseini, Seyed Mehdi

doi:10.1016/j.jogoh.2020.101723

Cited by 43 publications

(43 citation statements)

References 78 publications

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“…Couples are recommended to undergo pre-PGT-M testing before starting the IVF cycles in order to identify the mutated gene. This individualized and informative preliminary test, known as the PGT-M setup, requires a DNA sample from both partners and sometimes from other family members [35]. Once a mutation is identified in the DNA samples, PGT-M can be performed on an embryo biopsy specimen.…”

Section: Discussionmentioning

confidence: 99%

“…However, because the DNA sample is amplified, ADO might lead to the mistaken identification of a heterozygous locus as a homozygous locus, particularly when the starting sample is a single cell or a few cells [33]. Furthermore, ADO usually causes disastrous false-negative results [35]. NGS that is based on SNP markers has now been used to improve the accuracy of PGT-M [36].…”

Section: Discussionmentioning

confidence: 99%

“…NGS that is based on SNP markers has now been used to improve the accuracy of PGT-M [36]. The capture sequencing and linkage analysis of SNPs located near the gene of interest allow a convenient and efficient approach to the experimental design of PGT-M [35]. We mapped 55 informative SNPs that flanked the mutated region in COL4A5 to confirm the haplotype linkage analyses of the parents and the embryos.…”

Section: Discussionmentioning

confidence: 99%

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Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome

Zhang

Yuan

et al. 2021

Kidney Dis

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Background: Alport syndrome (AS) is a hereditary renal basement membrane disease that can lead to end-stage renal disease in young adults. It can be diagnosed by genetic analysis, being mostly caused by mutations in COL4A3, COL4A4, and COL4A5. To date, there is no radical cure for this disease. Objectives: The aim of this study was to avoid the transmission of AS within an affected family by selecting healthy embryos for uterine transfer. The embryos were identified by preimplantation genetic testing for monogenic disorders (PGT-M). Methods: We used next-generation sequencing (NGS) to identify mutations in the proband and his parents. The results of NGS were confirmed by Sanger sequencing. Targeted NGS combined with targeted single-nucleotide polymorphism haplotyping was used for the in vitro identification of COL4A5 mutations in human embryos to prevent their intergenerational transmission. Results: The c.349_359delGGACCTCAAGG and c.360_361insTGC mutations in COL4A5 were identified in a family affected by X-linked AS. Whole-genome sequencing by NGS with targeted haplotyping was performed on biopsied trophectoderm cells. A healthy baby was born after transfer of a single freeze-thawed blastocyst. Conclusions: The use of targeted NGS for identifying diagnostic markers combined with targeted haplotyping is an easy and efficient PGT-M method for preventing intergenerational transmission of AS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome

Zhang

Yuan

et al. 2021

Kidney Dis

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“…Chromosomal rearrangements can cause infertility, pregnancy loss(es) or birth of a child with congenital malformations and developmental delay such as trisomy 13 if a parent is a 13;14 Robertsonian translocation carrier. Subsequently, the identification of embryos with numerical chromosome abnormalities, as well as smaller copy number variants (CNV) has also become possible using PGT-A (Fesahat et al, 2020). PGT-A screens all the chromosomes to assess whether there are missing or extra chromosomes or smaller segmental or sub-chromosomal deletions or duplications (Fesahat et al, 2020).…”

Section: Introductionmentioning

confidence: 99%

“…Subsequently, the identification of embryos with numerical chromosome abnormalities, as well as smaller copy number variants (CNV) has also become possible using PGT-A (Fesahat et al, 2020). PGT-A screens all the chromosomes to assess whether there are missing or extra chromosomes or smaller segmental or sub-chromosomal deletions or duplications (Fesahat et al, 2020). Aneuploid cells are defined as cells having an abnormal number of chromosomes, and aneuploidy is associated with pregnancy loss and a range of phenotypes in affected children (Forman et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Decisional needs of patients considering preimplantation genetic testing: a systematic review

Cheng

Meiser

Kirk

et al. 2022

Reproductive BioMedicine Online

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This review reports on the needs and sources of support in patients" decision-making regarding the uptake of preimplantation genetic testing. Five databases were searched systematically to capture qualitative and quantitative studies. A total of 2,336 articles were screened by title and abstract. Twelve articles met the eligibility criteria and reported on 4,047 participants. This review shows that patients need information directly relevant to PGT treatment, and information on healthcare relating to treatment and alternative reproductive options. However, too detailed, too much information, and too much medical terminology can be a barrier to decision-making. The published literature suggests that health professionals provide general information on PGT and discuss it in detail only when patients require more information about it. Additionally, studies showed that patients received decisional support through mass media, significant persons in their lives and health professionals, while referring obstetricians and gynaecologists provided relatively less help compared to other health professionals. This review highlights the importance of developing decision aids that meet patients" decisional needs as indicated in previous studies and that utilise innovative formats to deliver information. Additionally, given rapid technical developments, there is a dearth of continuing professional education on PGT for clinicians to keep them updated.

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Genetic Communication

Scherr¹,

Campbell‐Salome²,

McQuaid³

2022

The International Encyclopedia of Health Communication

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Genomics is the study of a person's genes including interactions across genes and a person's lifestyle and environment. In the context of lifespan, genetic testing can be used in family planning, for example, in carrier screening, prior to embryo implantation, and to identify rare but serious conditions in a fetus or during childhood. In adulthood, genetic testing can identify individuals with diseases (e.g., Huntington's, Alzheimer's) and those at risk for diseases, which can be caught early through proactive screening behaviors, or avoided through preventive medications and procedures (e.g., cancers, cardiovascular diseases). Postmortem, genetic testing can be used to make sense of and identify a family member's cause of death to determine if other family members may be at risk (e.g., sudden cardiac death). Before undergoing genetic testing, effective communication between patients and clinicians can facilitate informed decision making about the test. After testing, effective communication between patients and clinicians can support understanding and subsequent decision making related to the genetic test result. Genetics can be passed within families; therefore, if one family member pursues genetic testing, the results of that decision can affect the entire family in many cases. Thus, genetic testing has implications for communication across the lifespan.

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Preimplantation genetic testing in assisted reproduction technology

Cited by 43 publications

References 78 publications

Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome

Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome

Decisional needs of patients considering preimplantation genetic testing: a systematic review

Genetic Communication

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