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Consistent results of non-invasive PGT-A of human embryos using two different techniques for chromosomal analysis.
Lledo, Belen; Morales, Ruth; Ortiz, Jose A; Rodriguez-Arnedo, Adoracion; Ten, Jorge; Castillo, Juan C; Bernabeu, Andrea; Llacer, Joaquin; Bernabeu, Rafael.
Afiliação
  • Lledo B; Molecular Biology, Instituto Bernabeu, Alicante, Spain. Electronic address: blledo@institutobernabeu.com.
  • Morales R; Molecular Biology, Instituto Bernabeu, Alicante, Spain.
  • Ortiz JA; Molecular Biology, Instituto Bernabeu, Alicante, Spain.
  • Rodriguez-Arnedo A; Reproductive Embryology, Instituto Bernabeu, Alicante, Spain.
  • Ten J; Reproductive Embryology, Instituto Bernabeu, Alicante, Spain.
  • Castillo JC; Reproductive Medicine, Instituto Bernabeu, Alicante, Spain.
  • Bernabeu A; Reproductive Medicine, Instituto Bernabeu, Alicante, Spain.
  • Llacer J; Reproductive Medicine, Instituto Bernabeu, Alicante, Spain.
  • Bernabeu R; Reproductive Medicine, Instituto Bernabeu, Alicante, Spain.
Reprod Biomed Online ; 42(3): 555-563, 2021 Mar.
Article em En | MEDLINE | ID: mdl-33454211
RESEARCH QUESTION: Are discordances in non-invasive preimplantation genetic testing for aneuploidies (niPGT-A) results attributable to the technique used for chromosomal analysis? DESIGN: A prospective blinded study was performed (September 2018 to December 2019). In total 302 chromosomal analyses were performed: 92 trophectoderm PGT-A biopsies and their corresponding spent embryo culture medium (SCM) evaluated by two methods (n = 184), negative controls (n = 8), and trophectoderm and inner cell mass biopsies from trophectoderm-aneuploid embryos (n = 18). Trophectoderm analyses were carried out using Veriseq (Illumina), and SCM was analysed using Veriseq and NICS (Yikon). RESULTS: Genetic results were obtained for 96.8% of trophectoderm samples versus 92.4% for both SCM techniques. The mosaicism rate was higher for SCM regardless of the technique used: 30.4% for SCM-NICS and 28.3% for SCM-Veriseq versus 14.1% for trophectoderm biopsies (P = 0.013, P = 0.031, respectively). No significant differences in diagnostic concordance were seen between the two SCM techniques (74.6% for SCM-NICS versus 72.3% for SCM-Veriseq; P = 0.861). For embryos biopsied on day 6, these rates reached 92.0% and 86.5%, respectively. On reanalysing trophectoderm-aneuploid embryos, the discrepancies were shown to be due to maternal DNA contamination (55.6%; 5/9), embryo mosaicism (22.2%; 2/9) and low resolution in SCM-NICS (11.1%; 1/9) and in both SCM techniques (11.1%; 1/9). CONCLUSIONS: This is the first study evaluating the consistency of different chromosomal analysis techniques for niPGT-A. In conclusion, the diagnostic concordance between PGT-A and niPGT-A seems independent of the technique used. Optimization of culture conditions and medium retrieval provides a potential target to improve the reliability of niPGT-A.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Implantação / Análise Citogenética / Aneuploidia Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Implantação / Análise Citogenética / Aneuploidia Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article