73 Preimplantation genetic diagnosis of glycogen branching enzyme deficiency and sex determination in equine in vitro-produced embryos

2022 ◽  
Vol 34 (2) ◽  
pp. 272
Author(s):  
M. Barandalla ◽  
S. Colleoni ◽  
R. Duchi ◽  
M. Benedetti ◽  
A. Perota ◽  
...  
Keyword(s):  
Sex Determination ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Glycogen Branching Enzyme

Problems and prerequisites for determining the legal regime preimplantation genetic diagnosis in Russian legislation

2019 ◽  
Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all ,
Keyword(s):  
In Vitro Fertilization ◽  
Preimplantation Genetic Diagnosis ◽  
Human Embryo ◽  
Legal Status ◽  
Genetic Diagnosis ◽  
Legal Regime ◽  
Vitro Fertilization

Сurrent problems and prerequisites for the formation of the legal regime of pre-implantation genetic diagnosis (PGD) are considered in Russian legislation with account the existing approaches to determining the legal status of a “pre-implantation” embryo obtained in the framework of the in vitro fertilization procedure (IVF) are discussed. The authors substantiates the conclusion that it is necessary to legally determine PGD as one of the stages of using IVF, as well as establishing generally binding requirements for the procedure, conditions and features of this diagnosis, taking into account the need to minimize the damage caused to the human embryo.

Preimplantation Genetic Diagnosis in Patients Undergoing In Vitro Maturation (IVM) Cycles

2005 ◽  
Vol 84 ◽  
pp. S332-S333
Author(s):  
A. Ao ◽  
D. Kong ◽  
S. Jin ◽  
N. Dean ◽  
R. Chian ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
In Vitro Maturation ◽  
Genetic Diagnosis

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1993 ◽  
Vol 33 (1) ◽  
pp. 88-93 ◽  
Author(s):  
Claudio Bruno ◽  
Serenella Servidei ◽  
Sara Shanske ◽  
George Karpati ◽  
Stirling Carpenter ◽  
...  
Keyword(s):  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease ◽  
Glycogen Branching Enzyme

Accuracy of preimplantation genetic diagnosis in equine in vivo-recovered and in vitro-produced blastocysts

2016 ◽  
Vol 28 (9) ◽  
pp. 1382 ◽  
Author(s):  
Y. H. Choi ◽  
M. C. T. Penedo ◽  
P. Daftari ◽  
I. C. Velez ◽  
K. Hinrichs
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Whole Genome Amplification ◽  
Genetic Diagnosis ◽  
Periodic Paralysis ◽  
Drop Out ◽  
Embryo Biopsy ◽  
Experimental Conditions ◽  
Polysaccharide Storage Myopathy

Preimplantation genetic diagnosis has great potential in the horse, but information on evaluation of equine embryo biopsy samples is limited. Blastocysts were biopsied using a Piezo drill and methods for whole-genome amplification (WGA) investigated. Results for 33 genetic loci were then compared between biopsy samples from in vitro-produced (IVP) and in vivo-recovered (VIV) blastocysts. Under the experimental conditions described, WGA using the Qiagen Repli-g Midi kit was more accurate than that using the Illustra Genomiphi V2 kit (98.2% vs 25.8%, respectively). Using WGA with the Qiagen kit, three biopsy samples were evaluated from each of eight IVP and 19 VIV blastocysts, some produced using semen from stallions carrying the genetic mutations associated with the diseases hereditary equine regional dermal asthenia (HERDA), hyperkalemic periodic paralysis (HYPP) or polysaccharide storage myopathy 1 (PSSM1). Three of 81 biopsy samples (3.7%) returned <50% accuracy. In the remaining 78 samples, overall accuracy was 99.3% (2556/2574 loci interrogated). Accuracy did not differ significantly between samples from IVP and VIV blastocysts. Allele drop-out in heterozygous loci was 1.6% (17/1035). Accuracy for sex determination was 100%; accuracy for heterozygosity for disease-causing mutations was 97.7% (43/44). In conclusion, Piezo-driven embryo biopsy with WGA has >95% overall accuracy in IVP and VIV embryos, and this technique is suitable for use in a clinical setting.

Aneuploidy and recombination in in vitro fertilized embyros (blastocysts) undergoing preimplantation genetic diagnosis (PGD)

2015 ◽  
Vol 104 (3) ◽  
pp. e18
Author(s):  
K. Ravichandran ◽  
Z.K. Gunes ◽  
B. Bankowski ◽  
A.M. Rosen ◽  
S.H. Chen ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis
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