Recent advances in preimplantation genetic diagnosis and screening

L Lu, B Lv, K Huang, Z Xue, X Zhu, G Fan - Journal of assisted …, 2016 - Springer
Preimplantation genetic diagnosis/screening (PGD/PGS) aims to help couples lower the
risks of transmitting genetic defects to their offspring, implantation failure, and/or miscarriage …

Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR)

E Mateu-Brull, L Rodrigo, V Peinado… - Journal of assisted …, 2019 - Springer
Purpose Balanced carriers of structural rearrangements have an increased risk of
unbalanced embryos mainly due to the production of unbalanced gametes during meiosis …

Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy

Y Ren, X Zhi, X Zhu, J Huang, Y Lian, R Li, H Jin… - Journal of Genetics and …, 2016 - Elsevier
Conventional PCR methods combined with linkage analysis based on short tandem repeats
(STRs) or Karyomapping with single nucleotide polymorphism (SNP) arrays, have been …

Individual capacity for DNA repair and maintenance of genomic integrity: a fertile ground for studies in the field of assisted reproduction

R Vazharova, I Kremensky - Biotechnology & Biotechnological …, 2016 - Taylor & Francis
Many factors may affect the chances for successful pregnancy, especially at a later age.
Fertility evaluations including genetic analysis are recommended to couples that have not …

Preimplantation genetic testing for complex chromosomal rearrangement carriers by next-generation sequencing

BCFK Brunet, J Shen, L Cai, J Xie, Y Cui, J Liu… - Reproductive …, 2018 - Elsevier
Research question Can preimplantation genetic testing (PGT) with next-generation
sequencing (NGS) increase the chance of achieving a balanced euploid pregnancy in …

Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform

Y Hao, D Chen, Z Zhang, P Zhou, Y Cao… - Oncology …, 2018 - spandidos-publications.com
Hearing loss may place a heavy burden on the patient and patient's family. Given the high
incidence of hearing loss among newborns and the huge cost of treatment and care …

The clinical application of single-sperm-based single-nucleotide polymorphism haplotyping for PGT of patients with genetic diseases

C Huang, B Zheng, L Chen, Z Diao, J Zhou - Reproductive BioMedicine …, 2022 - Elsevier
Research question Is there a simple and effective method for male patients with genetic
disorders in families with no identified haplotype and with Robertsonian translocations to …

Preimplantation genetic testing of Robertsonian translocation by SNP array‐based preimplantation genetic haplotyping

J Wang, Y Zeng, C Ding, B Cai, B Lu, R Li… - Prenatal …, 2018 - Wiley Online Library
Objectives The present study attempted to confirm a method that distinguishes a balanced
Robertsonian translocation carrier embryo from a truly normal embryo in parallel with …

Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service

A Girardet, A Ishmukhametova, V Viart, S Plaza… - Reproductive …, 2018 - Elsevier
This study provides an overview of preimplantation genetic diagnosis (PGD) for single gene
diseases and the management of expanding indications in the context of a fully financially …

Implicaciones causadas por la presencia y segregación de translocaciones robertsonianas. Su diagnóstico y efectos en la población

RE Esquivel-Quezada, C García-Morales… - Revista …, 2022 - medigraphic.com
Las translocaciones robertsonianas se producen por la fusión de los brazos largos de dos
cromosomas acrocéntricos y son frecuentes en los seres humanos. Sin embargo, su …