medigraphic.com
Federación Mexicana de Ginecología y Obstetricia, A.C.

2020, Number 06

<< Back Next >>

Ginecol Obstet Mex 2020; 88 (06)

Non-invasive preimplantation genetic diagnosis; preliminary data in Mexico

Barroso-Villa G, Pöo-Lanillo ME, Valdespin-Fierro C, García-Montes LD, Machargo-Gordillo AP, Ávila-Lombardo R

Language: Spanish
References: 16
Page: 363-371
PDF size: 493.94 Kb.


ABSTRACT

Objective: Analyze the concordance, false positive and false negative rates between circulating free DNA of the culture media compared to the results of the trophectoderm biopsy.
Materials and Methods: Observational, prospective and comparative study, conducted at Arcos Reproduction Center S.C. Nascere in november 2018. Couples with indication of preimplantation genetic diagnosis of aneuploidies undergoing In vitro Fertilization were included; carriers of structural anomalies or monogenic diseases were excluded and blastocysts with assisted hatching were eliminated. The response variables were the concordance, false positives and false negatives rates between trophoctoctoderm biopsies and culture media. Statistical analysis was performed with SPSS 25.0, using t-Student and chi-square tests with a value of p ‹0.05 significant.
Results: Informative results were obtained in 17 of the 20 culture media (85% successful global amplification); 70% on day 5 and 100% on day 6. The general concordance rate between trophectoderm biopsies and culture media was 68.7% (42.8% on day 5 and 88.8% on day 6). Regarding discrepancies, only 2 false negatives were observed in the culture media compared to the trophectoderm biopsy (14.2% on day 5 and 11.1% on day 6). There were 3 cases false positives (42.8% on day 5 and 0% on day 6).
Conclusions: High rates of concordance were reached with the non-invasive genetic aneuploidy test, mainly in embryos on day 6.


REFERENCES

  1. Vera-Rodriguez M, et al. Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis. Nat. Commun 2015; 6: 7601. doi: 10.1038/ncomms8601

  2. Hassold T & Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet 2001; 2 (4): 280-91. doi: 10.1038/35066065

  3. Rubio C, et al. Use of array comparative genomic hybridization (array-CGH) for embryo assessment: clinical results. Fertility and Sterility 2013; 99 (4): 1044-8. doi: 10.1016/j.fertnstert.2013.01.094

  4. Fiorentino F, et al. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril. 2014; 101 (5): 1375-82. doi: 10.1016/j. fertnstert.2014.01.051

  5. Hammond E, et al. Characterizing nuclear and mitochondrial DNA in spent embryo culture media: genetic contamination identified. Fertil Steril. 2017; 107 (1): 220-228. doi: 10.1016/j.fertnstert.2016.10.015

  6. Vera-Rodriguez M, et al. Origin and composition of cell-free DNA in spent medium from human embryo culture during preimplantation development. Obstetrical & Gynecological Survey 2018; 33 (4): 745-56. doi: 10.1093/humrep/dey028.

  7. Ho J, et al. Pushing the limits of detection: investigation of cell-free DNA for aneuploidy screening in embryos. Fertil Steril 2018; 110 (3): 467-475. doi: 10.1016/j. fertnstert.2018.03.036.

  8. Xu J, et al. Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization. Proc Natl Acad Sci USA. 2016; 113 (42): 11907-12. doi: 10.1073/ pnas.1613294113

  9. Feichtinger M, et al. Noninvasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of concept pilot study. Reprod Biomed Online 2017; 34 (6): 583- 89. doi: 10.1016/j.rbmo.2017.03.015

  10. Shamonki M, et al. Proof of concept: preimplantation genetic screening without embryo biopsy through analysis of cell-free DNA in spent embryo culture media. Fertil Steril 2016; 106 (6): 1312-18. doi: 10.1016/j.fertnstert.2016.07.1112

  11. Rubio C, et al. Origin of false positives and false negatives in non-invasive preimplantation genetic testing for aneuploidies. Fertility and Sterility 2018; 110 (4): e412. doi: 10.1016/j.fertnstert.2018.07.1182

  12. Shamonki M, et al. Proof of concept: preimplantation genetic screening without embryo biopsy through analysis of cell-free DNA in spent embryo culture media. Fertility and Sterility 2016; 106 (6): 1312-18. doi: 10.1016/j.fertnstert.2016.07.1112

  13. Capalbo A, et al. Diagnostic efficacy of blastocoel fluid and spent media as sources of DNA for preimplantation genetic testing in standard clinical conditions. Fertil Steril 2018; 110 (5): 870-79. doi: 10.1016/j. fertnstert.2018.05.031

  14. Stigliani S, et al. Mitochondrial DNA content in embryo culture medium is significantly associated with human embryo fragmentation. Hum Reprod. 2013; 28 (10): 2652-60. doi: 0.1093/humrep/det314

  15. Minasi M, et al. Improved blastocyst formation with reduced culture volume: comparison of three different culture conditions on 1128 sibling human zygotes. J Assist Reprod Genet. 2015; 32 (2): 215-20. doi: 10.1007/ s10815-014-0399-5

  16. Hawkins T, et al. Whole genome amplification. Applications and advances. Current opinion in biotechnology 2002; 13: 65-7. doi: 10.1016/S0958-1669(02)00286-0




2020     |     www.medigraphic.com