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Preimplantation Genetic Diagnosis for Single Gene Disorders
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Ana Cervero, Jose Antonio Martínez-Conejero, Lucía Sanz-Salvador, Claudia Gil-Sanchís, Maribel Sánchez-Piris, Laura Iñiguez Quiles
The use of multiplex PCR for linkage markers alone (so-called preimplantation genetic haplotyping or PGH) has become widespread in PGT for monogenic disorders (21,27) and HLA typing (28). The main advantage is that such protocols can be used for several couples, independent of the mutation they carry, thus saving time and resources in pre-PGT-M work-ups. However, the ability to use such indirect testing depends on the availability of appropriate family samples to determine the “at risk haplotype.” In cases where no such samples are available or in de novo mutation cases, it is necessary to identify the disease-causing mutation and analyze it directly in the embryos.
Preimplantation Genetic Testing for Structural Rearrangements
Published in Darren K. Griffin, Gary L. Harton, Preimplantation Genetic Testing, 2020
Developed as a universal test for PGT, karyomapping for PGT-M and PGT-A is covered in other chapters in this book; its application for PGT-SR was immediately evident from the first studies [82]. Unique traces for normal, balanced carrier and unbalanced embryos were apparent from the outset, not only in karyomapping but also similar approaches such as haplarithmisis and the more recently described preimplantation genetic haplotyping, BasePhasing [88,89]. The specifics of the various approaches using SNP data for PGT-SR are described next.
Genetic engineering: Past and present as prelude to the future
Published in Mark J. Cherry, Ana Smith Iltis, Roberta M. Berry, The Ethics of Genetic Engineering, 2013
Mark J. Cherry, Ana Smith Iltis, Roberta M. Berry
With the birth of the first “test tube” baby, Louise Brown, in 1978, assisted reproduction moved beyond insemination by use of donor sperm to the creation of embryos by IVF with gametes obtained from social parents, donors, or any combination.78 Beginning in the 1990s, pre-implantation genetic diagnosis in conjunction with an IVF procedure permitted prospective parents to select only “healthy” embryos for transfer to a woman’s uterus.79 And, beginning in 2006, by the technique of pre-implantation genetic haplotyping, embryos could be screened for a greatly expanded array of genetic conditions.80
Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma
Published in Systems Biology in Reproductive Medicine, 2019
Xingzhe Ji, Zhou Zhang, Juanzi Shi, Bin He
Preimplantation genetic diagnosis (PGD) has been used to select unaffected embryos from patients suffering from known genetic diseases. PGD is a more superior method than prenatal diagnosis because the former can avoid the pain of pregnancy termination if the foetus is affected and is also more ethically acceptable. POAG caused by MYOC mutations is an autosomal dominant disorder. To our knowledge, the most efficient method to detect the gene mutation is Sanger sequencing. However, two inherent defects are observed in Sanger sequencing for whole genome amplification (WGA) products from biopsied cells. Firstly, WGA techniques are unable to cover the whole genome, causing a risk of sequencing failure. Secondly, there is the risk of allele dropout (ADO) caused by amplification bias. Currently, multiple annealing and looping based amplification cycle (MALBAC) is applied to WGA to reduce the bias of amplification and cover the whole genome (Bourcy et al. 2014; Deleye et al. 2015). However, ADO still occurs in some instances. Since 2006, preimplantation genetic haplotyping analysis of polymorphic markers flanking the mutation site via next-generation sequencing (NGS) has been used in PGD to determine ADO and avoid misdiagnosis (Renwick et al. 2006, 2010; Hao et al. 2018).
Reproductive outcome following pre-implantation genetic diagnosis (PGD) in the UK
Published in Human Fertility, 2018
Abigail Sharpe, Peter Avery, Meenakshi Choudhary
In the UK, 24 centres are currently licensed to perform PGD but the HFEA database precludes analysis based on type of technique used to perform PGD. However, the technique employed in most centres in UK shows a move towards preimplantation genetic haplotyping with linkage analysis and array CGH with older techniques such as PCR and FISH becoming less and less popular (Renwick, Trussler, Lashwood, Braude, & Ogilvie, 2010). Although, our study restricted us from reporting PGD outcomes based on type of biopsy (trophectoderm or cleavage stage embryo biopsy), the literature review suggests the advantages of trophectoderm biopsy such as lower number of embryos to test for PGD based on blastocyst development, comparable diagnostic accuracy and better reproductive outcome (Kokkali et al., 2007; McArthur et al., 2008). Trophectoderm biopsy combined with CGH array for PGD is now becoming increasingly more common practice (Christodoulou et al., 2016) with promising trend noted towards targeted next generation sequencing and SNP arrays.