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Preimplantation Genetic Testing: Where We Are Today.

ABSTRACT: BACKGROUND:Preimplantation genetic testing (PGT) is widely used today in in-vitro fertilization (IVF) centers over the world for selecting euploid embryos for transfer and to improve clinical outcomes in terms of embryo implantation, clinical pregnancy, and live birth rates. METHODS:We report the current knowledge concerning these procedures and the results from different clinical indications in which PGT is commonly applied. RESULTS:This paper illustrates different molecular techniques used for this purpose and the clinical significance of the different oocyte and embryo stage (polar bodies, cleavage embryo, and blastocyst) at which it is possible to perform sampling biopsies for PGT. Finally, genetic origin and clinical significance of embryo mosaicism are illustrated. CONCLUSIONS:The preimplantation genetic testing is a valid technique to evaluated embryo euploidy and mosaicism before transfer.

SUBMITTER: Greco E

PROVIDER: S-EPMC7352684 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Preimplantation Genetic Testing: Where We Are Today.

Greco Ermanno E Litwicka Katarzyna K Minasi Maria Giulia MG Cursio Elisabetta E Greco Pier Francesco PF Barillari Paolo P

International journal of molecular sciences 20200619 12

<h4>Background</h4>Preimplantation genetic testing (PGT) is widely used today in in-vitro fertilization (IVF) centers over the world for selecting euploid embryos for transfer and to improve clinical outcomes in terms of embryo implantation, clinical pregnancy, and live birth rates.<h4>Methods</h4>We report the current knowledge concerning these procedures and the results from different clinical indications in which PGT is commonly applied.<h4>Results</h4>This paper illustrates different molecul ...[more]

PMID: 32575575

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Preimplantation Genetic Testing for Monogenic Kidney Disease.

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Utilization of preimplantation genetic testing in the USA.

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Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data.

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| S-EPMC8259107 | biostudies-literature

Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome.

Project description:BackgroundAlport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities. Mutations in COL4A5 at Xq22 accounts for 80-85% of X-linked Alport syndrome patients. Three couples were referred to our reproductive genetics clinic for prenatal or preconception counseling.MethodsPrenatal diagnoses were performed by amplifying targeted regions of COL4A5. Targeted next-generation sequencing (NGS)-based haplotype analysis or karyomapping was performed in two patients. Pregnancy outcomes in the three patients were collected and analyzed. Published Alport syndrome cases were searched in Pubmed and Embase.ResultsPrenatal diagnoses in two cases showed one fetus harbored the same pathogenic mutation as the proband and the other was healthy. The couple with an affected fetus and the patient with a family history of Alport syndrome chose to take the preimplantation genetic testing (PGT) procedure. One unaffected embryo was transferred to the uterus, and a singleton pregnancy was achieved, respectively. Two patients presented non-nephrotic range proteinuria (<3 g/24 h) during pregnancy and the three cases all delivered at full-term. However, published Alport cases with chronic kidney disease or proteinuria during pregnancy were came with a high rate (75%) of adverse maternal and fetal outcomes.ConclusionThe PGT procedure performed in this study was proven to be practicable and might be expanded to be applied in other monogenic diseases. Moderate or severe renal impairments in Alport syndrome were strongly associated with adverse maternal and fetal outcomes, and baseline proteinuria was a potential predictor for pregnancy outcomes of Alport syndrome as other kidney diseases.

| S-EPMC7900551 | biostudies-literature

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