Results 1 to 10 of about 24,363 (274)

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

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

Preimplantation Genetic Testing for Monogenic Kidney Disease [PDF]

Clinical Journal of the American Society of Nephrology, 2020
Background and objectives A genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as preimplantation genetic diagnostics) is a reproductive technology that helps prospective parents to prevent passing on (a) disease-causing mutation(
Rozemarijn Snoek, Marijn F. Stokman, Klaske D. Lichtenbelt, Theodora C. van Tilborg, Cindy E. Simcox, Aimée D.C. Paulussen, Jos C.M.F. Dreesen, Franka van Reekum, A. Titia Lely, Nine V.A.M. Knoers, Christine E.M. de Die-Smulders, Albertien M. van Eerde   +11 more
openaire   +9 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

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

Preimplantation genetic testing for Marfan syndrome [PDF]

Molecular Human Reproduction, 1996
Marfan syndrome (MFS) is an autosomal dominant disease that affects the skeletal, ocular and cardiovascular systems. Defects in the gene that codes for fibrillin (FBN-1) are responsible for MFS. Here we report the world's first use of preimplantation genetic testing (PGT) to achieve a clinical pregnancy and live birth of a baby free of a Marfan ...
G. Harton, Petros Tsipouras, Michael E. Sisson, Karin M. Starr, BARRY S. MAHONEY, Edward F. Fugger, Joseph D. Schulman, M W Kilpatrick, Gene Levinson, Susan H. Black   +9 more
openalex   +3 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: A narrative review. [PDF]

Porto Biomed J
Abstract Preimplantation genetic testing (PGT) is a diagnostic procedure that has become a powerful complement to assisted reproduction techniques. PGT has numerous indications, and there is a wide range of techniques that can be used, each with advantages and limitations that should be considered before choosing the more adequate one.
Fernandes SLE, de Carvalho FAG.
europepmc   +3 more sources