Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos DOI Creative Commons

Qingya Yang,

Sara A. Carioscia, Matthew Isada

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 2, 2024

Chromosome mis-segregation is common in human meiosis and mitosis, the resulting aneuploidies are leading cause of pregnancy loss. Preimplantation genetic testing for aneuploidy (PGT-A) seeks to prioritize chromosomally normal embryos transfer based on analysis a biopsy approximately five trophectoderm cells from blastocyst-stage

Language: Английский

Association Between Pregnancy Outcomes and the Time of Progesterone Exposure of D6 Single-Blastocyst Transfer in Frozen-Thawed Cycles: A Retrospective Cohort Study DOI Creative Commons

Dan Qi,

Xi Zhang,

Fangli Li

et al.

International Journal of Women s Health, Journal Year: 2024, Volume and Issue: Volume 16, P. 1067 - 1077

Published: June 1, 2024

The objective of this study was to assess reproductive outcomes D6 blastocysts transferred on day 6 in comparison those 7 progesterone exposure frozen-thawed embryo transfer cycles.

Language: Английский

Citations

0
Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission DOI Creative Commons

Zubo Wu,

Tao Liang, Yi Liu

et al.

Frontiers in Genetics, Journal Year: 2024, Volume and Issue: 15

Published: Aug. 8, 2024

Aim The aim of this study is to investigate if Preimplantation Genetic Testing (PGT) can effectively identify unreported variants according American College Medical Genetics and Genomics (ACMG)to prevent citrullinemia type 1 affection. Design This involves a detailed case analysis family with history 1, focusing on the use PGT for monogenic diseases (PGT-M). genetic were identified using ACMG guidelines, was employed inheritance these variants. included haplotype Sanger sequencing confirm results. Results previously variations in ASS1 gene causing 1. successfully prevented transmission variants, resulting birth healthy fetus. However, challenges such as allele dropout (ADO) recombination encountered during analysis, which could potentially defeat diagnosis. demonstrated that combining enhance accuracy PGT. Conclusion targeting likely pathogenic gene, rated by ACMG, allows infants free from Additionally, establishment single haplotypes reduce misdiagnosis rate caused recombination.

Language: Английский

Citations

0
Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos DOI Creative Commons

Qingya Yang,

Sara A. Carioscia, Matthew Isada

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 2, 2024

Chromosome mis-segregation is common in human meiosis and mitosis, the resulting aneuploidies are leading cause of pregnancy loss. Preimplantation genetic testing for aneuploidy (PGT-A) seeks to prioritize chromosomally normal embryos transfer based on analysis a biopsy approximately five trophectoderm cells from blastocyst-stage

Language: Английский

Citations

0