Results 11 to 20 of about 5,754 (180)

PGT-M With or Without Triplet Repeat Detection for Fragile X Syndrome

Fertility & Reproduction, 2022
Background: Fragile X syndrome (FraX) is the most common single gene cause of intellectual disability. It is caused by an unstable triplet repeat expansion in the Fragile X Mental Retardation 1 ( FMR1 ) gene.
Katherine ROSE, Tiki OSIANLIS, Martin HEALEY, Sarah NOWOWEISKI, Anand VASUDEVAN   +4 more
doaj   +2 more sources

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes. [PDF]

Genes (Basel), 2023
Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer. In this article, we provide an overview of the reproductive options for patients diagnosed with CPS, focusing on the emerging role of Preimplantation Genetic ...
Calosci D, Passaglia L, Gabbiato I, Cartisano F, Affuso R, Sorrentino U, Zuccarello D.   +6 more
europepmc   +3 more sources

PGT-M, a Useful Tool to Manage the Lynch Syndrome Transmission [PDF]

Int J Mol Sci, 2023
Lynch syndrome is one of the most common hereditary cancer sensitivity syndromes and is caused by autosomal-dominant germline mutations in DNA mismatch repair genes. In patients affected by this syndrome, pre-implantation genetic testing for monogenic disorders (PGT-M) could be the elective technique used to prevent the transmission of this hereditary ...
Listorti I, Manzo R, Arrivi C, Mencacci C, Biricik A, Greco E, Greco P.   +6 more
europepmc   +3 more sources

Combining PGT-A with PGT-M risks trying to do too much. [PDF]

J Assist Reprod Genet, 2022
The primary objective of preimplantation genetic testing for monogenic disorders (PGT-M) is to avoid having a child with a serious monogenic disease. Combining testing for unrelated sporadic chromosomal abnormalities (PGT-A) and excluding embryos with chromosomally abnormal results from transfer proffers the chance to mitigate the risk of miscarriage ...
Scriven PN.
europepmc   +3 more sources

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. [PDF]

Genes (Basel), 2023
Primary ovarian failure (POF) is caused by follicle exhaustion and is associated with menstrual irregularities and elevated gonadotropin levels, which lead to infertility before the age of 40 years. The etiology of POI is mostly unknown, but a heterogeneous genetic and familial background can be identified in a subset of cases.
Persico T, Tranquillo ML, Seracchioli R, Zuccarello D, Sorrentino U.   +4 more
europepmc   +4 more sources

Genetic Counselling for PGT

Fertility & Reproduction, 2023
Preimplantation Genetic Testing for Monogenic Conditions (PGT-M) is increasingly becoming an important reproductive option for individuals and couples planning a pregnancy.
Melody Menezes
doaj   +1 more source

Extended application of PGT-M strategies for small pathogenic CNVs. [PDF]

J Assist Reprod Genet
The preimplantation genetic testing for aneuploidy (PGT-A) platform is not currently available for small copy-number variants (CNVs), especially those < 1 Mb. Through strategies used in PGT for monogenic disease (PGT-M), this study intended to perform PGT for families with small pathogenic CNVs.Couples who carried small pathogenic CNVs and underwent ...
Hu X, Wang W, Luo K, Dai J, Zhang Y, Wan Z, He W, Zhang S, Yang L, Tan Q, Li W, Zhang Q, Gong F, Lu G, Tan YQ, Lin G, Du J.   +16 more
europepmc   +3 more sources

Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance

Journal of Biochemical and Clinical Genetics, 2023
Background: Preimplantation genetic testing (PGT) is used to identify a pathogenic variant in embryos created through in vitro fertilization. A "variant of uncertain significance" (VOUS) is a genetic variant discovered through genetic testing ...
Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel   +5 more
doaj   +1 more source

#152 : Exploring the Limitations of Linkage-Only PGT-M

Fertility & Reproduction, 2023
Background and Aims: Although PGT-M cases can be conducted using linkage only, the inclusion of a direct test targeting the relevant genetic variants should be fundamental to best practise. We present four cases illustrating the limitations of linkage only PGT-M.
Michael Farrell, Steve Grkovic, Maria Traversa, Daniel Jones, Mark Livingstone, Steven McArthur   +5 more
openaire   +2 more sources

Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism

Molecular Genetics & Genomic Medicine, 2021
Background Mosaicism poses challenges for genetic counseling and preimplantation genetic testing for monogenic disorders (PGT‐M). NGS‐based PGT‐M has been extensively used to prevent the transmission of monogenic defects, but it has not been evaluated in
Xiao Hu, Wen‐Bin He, Shuo‐Ping Zhang, Ke‐Li Luo, Fei Gong, Jing Dai, Yi Zhang, Zhen‐Xing Wan, Wen Li, Shi‐Min Yuan, Yue‐Qiu Tan, Guang‐Xiu Lu, Ge Lin, Juan Du   +13 more
doaj   +1 more source