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Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report [PDF]

Journal of Medical Case Reports
Background Microdeletions and microduplications are chromosomal variants ranging up to 3 Mb in size. These abnormalities often arise spontaneously and have significant clinical implications, including developmental delay and congenital anomalies.
Maria Katz, Ben Podgursky, Shenglai Li, Qinnan Zhang, Daniel Shapiro, Monica Pasternak, Noor Siddiqui, Funda Suer, Yuntao Xia   +8 more
doaj   +2 more sources

Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer [PDF]

npj Genomic Medicine
Recently, some clinics have begun using preimplantation genetic testing for monogenic disorders (PGT-M) for moderately penetrant breast cancer (BC) risk variants, while other clinics use polygenic risk scores (PRS) in the context of preimplantation ...
Todd Lencz, Upasana Bhattacharyya, Liraz Klausner, Jibin John, Shai Carmi   +4 more
doaj   +2 more sources

The clinical application and challenges of preimplantation genetic testing [PDF]

Frontiers in Genetics
Preimplantation genetic testing (PGT) has rapidly advanced due to the significant development of genetic testing technologies. As an integration of genetic testing and assisted reproductive technology (ART), PGT plays a pivotal role in the primary ...
Fan Zhou, Fan Zhou, Xinlian Chen, Xinlian Chen, Shanling Liu, Shanling Liu, Xiaodong Wang, Xiaodong Wang   +7 more
doaj   +2 more sources

Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A [PDF]

Human Genome Variation
Here we report the first successful birth after preimplantation genetic testing for m.10197G>A mutation, a rare variant responsible for Leigh encephalopathy. Preimplantation genetic testing diagnosed the embryo with a mutant load of
Yuki Mizuguchi, Kou Sueoka, Suguru Sato, Mamoru Tanaka   +3 more
doaj   +2 more sources

Non-Invasive Preimplantation Genetic Testing. [PDF]

Genes (Basel)
To minimise the influence of chromosomal abnormalities during IVF treatment, embryos can be screened before transfer using preimplantation genetic testing. This typically involves an invasive trophectoderm biopsy at the blastocyst stage, where 4-8 cells are collected and analysed.
Bakalova DN, Bakalova DN, Navarro-Sánchez L, Rubio C.   +3 more
europepmc   +2 more sources

Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing [PDF]

BMC Medical Genomics
Background To investigate whether the noninvasive preimplantation genetic testing (niPGT) complement conventional preimplantation genetic testing (PGT) in the embryos for aneuploidy.
Songchang Chen, Li Wang, Yuting Hu, Yaxin Yao, Fangfang Gao, Chunxin Chang, Lanlan Zhang, Hefeng Huang, Daru Lu, Chenming Xu   +9 more
doaj   +2 more sources

Preimplantation genetic testing [PDF]

Srpski medicinski casopis Lekarske komore, 2021
The application of preimplantation genetic testing (PGT) began in the late 1980s. Pre-implantation genetic testing, as the earliest possible method of prenatal diagnosis, enables the selection of embryos with a normal karyotype for embryo transfer. The use of preimplantation genetic testing has proven to be a useful method in the following three groups
Ana Jeremić, Dragana Vuković, Srna Subanović, Jovana Broćić, Biljana Macanović   +4 more
openaire   +3 more sources

PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing [PDF]

Reproduction, 2020
Thirty years of rapid technological advances in the field of genetic testing and assisted reproduction have reshaped the procedure of preimplantation genetic testing (PGT). The development of whole genome amplification and genome-wide testing tools together with the implementation of optimal hormonal stimulation protocols and more efficient ...
Martine, De Rycke, Veerle, Berckmoes, Anick, De Vos, Stefanie, Van De Voorde, Pieter, Verdyck, Willem, Verpoest, Kathelijn, Keymolen   +6 more
openaire   +2 more sources

PREIMPLANTATION GENETIC TESTING: Preimplantation genetic testing for polygenic disease risk [PDF]

Reproduction, 2020
Since its introduction to clinical practice, preimplantation genetic testing (PGT) has become a standard of care for couples at risk of having children with monogenic disease and for chromosomal aneuploidy to improve outcomes for patients with infertility.
Nathan R, Treff, Diego, Marin, Louis, Lello, Stephen, Hsu, Laurent C A M, Tellier   +4 more
openaire   +2 more sources

Legal Regulation of Preimplantation Genetic Diagnosis: A Comparative Analysis of the Baltic Sea Region and the Nordic Countries

Teisė, 2022
This paper examines the concept and regulation of some of the latest research in the field of fertility – preimplantation genetic diagnosis – in Lithuania, Poland, the Baltic States, and the Nordic countries.
Nastė Grubliauskienė
doaj   +1 more source