Results 1 to 10 of about 11,687 (142)

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

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

An attractive alternative to prenatal diagnosis: a case report of preimplantation genetic testing in familial cardiomyopathy [PDF]

AJOG Global Reports
Familial hypertrophic cardiomyopathy is an autosomal dominant familial inherited heart disease caused by mutations in the sarcomere protein that affects nearly 1 in 500 people.
Shubhra Pandey, MBBS, DGO, FRM, Parth Khandhedia, MBBS, DGO   +1 more
doaj   +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

Combined Preimplantation Genetic Testing for Aneuploidy (PGT-A) and Monogenic Disorders (PGT-M) to Prevent Autosomal Dominant Polycystic Kidney Disease After Kidney Transplant. [PDF]

Cureus
Elbanna W, Azmy O, Elhinnawi MA.
europepmc   +3 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

A study of application effects of next-generation sequencing based preimplantation genetic testing for aneuploidies in advanced maternal age women

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: To investigate if next-generation sequencing-based preimplantation genetic testing for aneuploidies could improve pregnancy outcomes in women of advanced maternal age. Materials and methods: A retrospective analysis.
Yizhuo Yang, Xinmeng Guo, Ming Zhang, Hui Wang, Sha Mu, Hongmei Peng, Yuanqing Yao   +6 more
doaj   +1 more source

Preimplantation genetic testing for aneuploidy in uterus transplant patients

Therapeutic Advances in Reproductive Health, 2021
Uterus transplantation is an emerging treatment for uterine factor infertility. In vitro fertilization with cryopreservation of embryos prior is required before a patient can be listed for transplant.
Rhea Chattopadhyay, Elliott Richards, Valerie Libby, Rebecca Flyckt   +3 more
doaj   +1 more source

In vitro fertilization with preimplantation genetic testing compared with donor sperm and natural conception among male Robertsonian translocation carriers: a cost-effectiveness analysis. [PDF]

F S Rep
Melville SJF, Mandelbaum A, Shi J, Kornfield M, Caughey AB, Krieg SA.   +5 more
europepmc   +2 more sources

Mapping of meiotic recombination in human preimplantation blastocysts

G3: Genes, Genomes, Genetics, 2023
Recombination is essential for physical attachments and genetic diversity. The Han Chinese population is the largest ethnic group worldwide, therefore, the construction of a genetic map regarding recombination for the population is essential.
Yuanlin Ma, Jing Wang, Rong Li, Chenhui Ding, Yan Xu, Canquan Zhou, Yanwen Xu   +6 more
doaj   +1 more source