Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis.

We compared chromosomal mosaicism, detected by next-generation sequencing (NGS), during preimplantation genetic testing (PGT) with that detected by single-nucleotide polymorphism (SNP) array-based PGT to assess the pregnancy outcomes associated with both platforms in a retrospective cohort study of patients undergoing in vitro fertilization in a single university-based assisted reproduction center. In total, 6427 blastocysts biopsied from 1513 patients who underwent 2833 oocyte retrievals from January 2017 to February 2019 were identified. The incidence of mosaicism was significantly higher in the NGS-based PGT group than in the SNP array-based PGT group.

[Efficiency of multi-round fluorescence in situ hybridization and its influencing factors in preimplantation genetic diagnosis].

Objective: To investigate the efficiency of multi-round fluorescence in situ hybridization (FISH) and its influencing factors in preimplantation genetic diagnosis (PGD).

Methods: A total of 48 couples accepted PGD because of various reasons: 24 with Robertsonian translocations, 16 with reciprocal translocations, 2 with pericentric inversions, one with advanced maternal age who had a previous liveborn of Down syndrome, 3 suffered from sex chromosome abnormalities and 2 repeated spontaneous miscarriages. After 72 retrieval cycles, 432 cleavage stage embryos with more than six cells were biopsied on day three.