Results 21 to 30 of about 5,754 (180)
PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases [PDF]
Journal of Assisted Reproduction and GeneticsElena V Soloveva +2 more
exaly +2 more sources
Acta Medica Lituanica, 2022 Background and Objectives: The most effective treatment of infertility is in vitro fertilization (IVF). IVF with Preimplantation Genetic Testing (PGT) allows to identify embryos with a genetic abnormality associated with a specific medical disorder and ...
Eglė Stukaitė-Ruibienė +7 more
doaj +1 more source
Fertility & Reproduction, 2023 Background and Aims: Thalassemia is a hereditary blood disorder with diverse clinical manifestation inherited by autosomal recessive manner which affected 1.5% of the population. Clinically, there are two major forms: [Formula: see text]-thalassemia and [
Lan Tram Ho +9 more
doaj +1 more source
Frontiers in Endocrinology, 2023 ObjectiveThis study aimed to determine whether controlled ovarian hyperstimulation (COH) parameters influence the incidence of de novo chromosomal abnormalities (> 4 Mb) in blastocysts and, thus, clinical pregnancy outcomes in preimplantation genetic ...
Yanli Liu +7 more
doaj +1 more source
Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency. [PDF]
BMC Pregnancy ChildbirthAbstract Background Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders. The main reason is that the OTC gene variants lead to the loss or decrease of OTC enzyme function, which hinders the ammonia ...
Zhou Y +5 more
europepmc +4 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: Beckwith-Wiedemann syndrome (BWS) is a rare imprinting gene disorder. Maternal CDKN1C mutation comprises 5% of etiologies of BWS. There is no successful report of preventing BWS by preimplantation genetic testing for monogenic disease (PGT-M ...
Ih-Jane Yang +9 more
doaj +1 more source
The Insufficient Number of Informative SNPs in a Preclinical Karyomapping Test for PGT-M Depends on the Reference Selected. [PDF]
J Pers MedBackground/Objectives: Karyomapping, a genome-wide SNP analysis, has drastically changed the approach to preimplantation genetic testing for monogenic disorders (PGT-M). However, there are cases in which karyomapping cannot be applied due to an insufficient number of informative SNPs.
Kim MJ +7 more
europepmc +3 more sources
Is Day-4 morula biopsy a feasible alternative for preimplantation genetic testing?
PLoS ONE, 2020 ObjectiveTo assess the efficacy and clinical outcome of PGT-M undertaken on Day-3, Day-4 and Day-4 "delayed" embryos that were unsuitable for biopsy on Day-3.Design and settingCohort-historical study of all consecutive patients admitted to the IVF-PGT-M ...
Raoul Orvieto +4 more
doaj +2 more sources
Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A
Frontiers in Endocrinology, 2020 Background: When discussing matters of reproduction, the 2015 revised guidelines for the management of medullary thyroid carcinoma recommend that patients diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) are informed about the option of ...
Anders Würgler Hansen +7 more
doaj +1 more source
#46 : Outcomes of Transfer Abnormally Chromosomal Embryos
Fertility & Reproduction, 2023 Background and Aims: In some couples, there was no normal chromosomal embryos after preimplantation genetic testing (PGT) for aneuploidy (PGT-A), for structural chromosomal rearrangements (PGT-SR) or for monogenic (PGT-M).
Truong Thai Ha Nguyen +4 more
doaj +1 more source