Embryo Genetics

Rubio, Carmen; Simón, Carlos

doi:10.3390/genes12010118

Cited by 5 publications

(5 citation statements)

References 12 publications

(12 reference statements)

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“…Assigning a PRS to an embryo is possible because of available large datasets of people with each disease. Clinical implementation of PRS may be useful in cohorts where there is a higher prior probability of disease, for example, in early stages of diseases to assist in the diagnosis or to inform individuals regarding treatment choices (56,(59)(60)(61)(62). The pros and cons of PGT-P are highly debated among the scientific circles and there are vocal proponents and opponents on both sides arguing cost to benefit justification (63).…”

Section: Genetic Counseling For Polygenic Disorders (Pgt-p)mentioning

confidence: 99%

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Parikh,

Athalye,

Madon

et al. 2023

Front. Reprod. Health

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Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Genetic counseling in the area of assisted reproductive technology (ART) has also evolved along with PGT and is considered an essential and integral part of Reproductive Medicine. While PGT has the potential to prevent future progeny from being affected by genetic conditions, genetic counseling helps couples understand and adapt to the medical, psychological, familial and social implications of the genetic contribution to disease. Genetic counseling is particularly helpful for couples with recurrent miscarriages, advanced maternal age, a partner with a chromosome translocation or inversion, those in a consanguineous marriage, and those using donor gametes. Partners with a family history of genetic conditions including hereditary cancer, late onset neurological diseases and with a carrier status for monogenic disorders can benefit from genetic counseling when undergoing PGT for monogenic disorders (PGT-M). Genetic counseling for PGT is useful in cases of Mendelian disorders, autosomal dominant and recessive conditions and sex chromosome linked disorders and for the purposes of utilizing HLA matching technology for creating a savior sibling. It also helps in understanding the importance of PGT in cases of variants of uncertain significance (VUS) and variable penetrance. The possibilities and limitations are discussed in detail during the sessions of genetic counseling.

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Section: Genetic Counseling For Polygenic Disorders (Pgt-p)mentioning

confidence: 99%

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Parikh,

Athalye,

Madon

et al. 2023

Front. Reprod. Health

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“…This was made possible when Druker et al [ 95 ] developed imatinib (or Gleevec), a drug with high efficiency in treating chronic myelogenous leukaemia by targeting the unique molecular abnormality. To date, more than 1000 human genetic tests are practicable, and some enable embryos created from in vitro fertilization to be screened for the genetic mutations that cause genetic disorders such as sickle cell disease and cystic fibrosis [ 96 , 97 ].…”

Section: How Has the Cracking Of Genetic Code Improved Life On Earth?mentioning

confidence: 99%

Genetics Matters: Voyaging from the Past into the Future of Humanity and Sustainability

Cheng

Harikrishna

Redwood

et al. 2022

IJMS

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The understanding of how genetic information may be inherited through generations was established by Gregor Mendel in the 1860s when he developed the fundamental principles of inheritance. The science of genetics, however, began to flourish only during the mid-1940s when DNA was identified as the carrier of genetic information. The world has since then witnessed rapid development of genetic technologies, with the latest being genome-editing tools, which have revolutionized fields from medicine to agriculture. This review walks through the historical timeline of genetics research and deliberates how this discipline might furnish a sustainable future for humanity.

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“…An emerging field now is PGT for polygenic disease risk. [ 91 92 93 ] Efforts are on linking the genetic constitution of the embryo to its morphology, implantation potential and transcriptome using single-cell RNA sequencing. [ 94 ]…”

Section: G Limpses Into the F Uture Of ...mentioning

confidence: 99%

Evolution and utility of preimplantation genetic testing for monogenic disorders in assisted reproduction - A narrative review

et al. 2021

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Preimplantation genetic testing (PGT) for monogenic disorders and assisted reproductive technology have evolved and progressed in tandem. PGT started with single-cell polymerase chain reaction (PCR) followed by fluorescent in situ hybridisation for a limited number of chromosomes, later called ‘preimplantation genetic diagnosis (PGD) version 1’. This review highlights the various molecular genetic techniques that have evolved to detect specific inherited monogenic disorders in the preimplantation embryo. Literature review in English was performed in PubMed from 1990 to 2021, using the term ‘preimplantation genetic diagnosis’. With whole-genome amplification, multiple copies of embryonic DNA were created. This helped in avoiding misdiagnosis caused by allele dropout. Multiplex fluorescent PCR analysed informative short tandem repeats (STR) and detected mutations simultaneously on automated capillary electrophoresis sequencers by mini-sequencing. Comparative genomic hybridisation (CGH) and array CGH were used for 24 chromosome aneuploidy screening. Subsequently, aneuploidies were detected by next-generation sequencing using single-nucleotide polymorphism arrays, while STR markers were used for haplotyping. ‘PGD version 2’ included accurate marker-based diagnosis of most monogenic disorders and detection of aneuploidy of all chromosomes. Human leukocyte antigen matching of embryos has important implications in diagnosis and cure of haemoglobinopathies and immunodeficiencies in children by means of matched related haematopoietic stem cell transplantation from an unaffected ‘saviour sibling’ obtained by PGT.

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Embryo Genetics

Cited by 5 publications

References 12 publications

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Genetics Matters: Voyaging from the Past into the Future of Humanity and Sustainability

Evolution and utility of preimplantation genetic testing for monogenic disorders in assisted reproduction - A narrative review

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