Characterizing nuclear and mitochondrial DNA in spent embryo culture media: genetic contamination identified

Fertility and Sterility

Volumn 107, Issue 1, 2017, Pages 220-228.e5

  Hammond, Elizabeth R ^a   McGillivray, Brent C ^a   Wicker, Sophie M ^a   Peek, John C ^b   Shelling, Andrew N ^a   Stone, Peter ^a   Chamley, Larry W ^a   Cree, Lynsey M ^a,b  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b Fertility Associates   (New Zealand)

Author keywords

Cell free DNA; embryo culture media; mitochondrial DNA; preimplantation genetic diagnosis; preimplantation genetic screening

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA; CULTURE MEDIUM; DNA; GENETIC MARKER;

ADULT; ARTICLE; BLASTOCYST; COHORT ANALYSIS; CONTINUOUS CULTURE; CONTROLLED STUDY; COPY NUMBER VARIATION; CULTURE MEDIUM; CUMULUS CELL; DNA CONTAMINATION; DNA DETERMINATION; DNA FINGERPRINTING; DNA PURIFICATION; EMBRYO; EMBRYO CELL; EMBRYO CULTURE; EMBRYO DEVELOPMENT; FEMALE; GENE DOSAGE; HUMAN; HUMAN CELL; INTRACYTOPLASMIC SPERM INJECTION; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MITOCHONDRIAL GENE; MITOCHONDRIAL GENOME; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL; PROSPECTIVE STUDY; SEX CHROMOSOME; Y CHROMOSOME; FERTILITY; GENETIC MARKER; GENETIC SCREENING; GENETICS; INFERTILITY, MALE; METABOLISM; PATHOPHYSIOLOGY; PREDICTIVE VALUE; PREGNANCY; PREIMPLANTATION GENETIC DIAGNOSIS; PROCEDURES; REPRODUCIBILITY;

ADULT; BLASTOCYST; CHROMOSOMES, HUMAN, Y; CULTURE MEDIA; DNA; DNA COPY NUMBER VARIATIONS; DNA FINGERPRINTING; DNA, MITOCHONDRIAL; EMBRYO CULTURE TECHNIQUES; EMBRYONIC DEVELOPMENT; FEMALE; FERTILITY; GENE DOSAGE; GENETIC MARKERS; GENETIC TESTING; HUMANS; INFERTILITY, MALE; MALE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; PREGNANCY; PREIMPLANTATION DIAGNOSIS; REPRODUCIBILITY OF RESULTS; SPERM INJECTIONS, INTRACYTOPLASMIC;

EID: 85006802863     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2016.10.015     Document Type: Article

References (35)

1. 1 Gardner, D.K., Lane, M., Stevens, J., Schlenker, T., Schoolcraft, W.B., Blastocyst score affects implantation and pregnancy outcome: towards a single blastocyst transfer. Fertil Steril 73 (2000), 1155–1158.
2. 2 Capalbo, A., Rienzi, L., Cimadomo, D., Maggiulli, R., Elliott, T., Wright, G., et al. Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts. Hum Reprod 29 (2014), 1173–1181.
3. 3 Forman, E.J., Hong, K.H., Ferry, K.M., Tao, X., Taylor, D., Levy, B., et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril 100 (2013), 100–107.
4. 4 Scott, R.T. Jr., Upham, K.M., Forman, E.J., Hong, K.H., Scott, K.L., Taylor, D., et al. Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil Steril 100 (2013), 697–703.
5. 5 Yang, Z., Liu, J., Collins, G.S., Salem, S.A., Liu, X., Lyle, S.S., et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet, 5, 2012, 24.
6. 6 Gutierrez-Mateo, C., Sánchez-García, J.F., Fischer, J., Tormasi, S., Cohen, J., Munné, S., et al. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril 92 (2009), 1544–1556.
7. 7 Montag, M., Köster, M., Strowitzki, T., Toth, B., Polar body biopsy. Fertil Steril 100 (2013), 603–607.
8. 8 Handyside, A.H., Pattinson, J.K., Penketh, R.J., Delhanty, J.D., Winston, R.M., Tuddenham, E.G., Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1 (1989), 347–349.
9. 9 Schoolcraft, W.B., Fragouli, E., Stevens, J., Munne, S., Katz-Jaffe, M.G., Wells, D., Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril 94 (2010), 1700–1706.
10. 10 Fragouli, E., Wells, D., Aneuploidy in the human blastocyst. Cytogenet Genome Res 133 (2011), 149–159.
11. 11 Scott, R.T. Jr., Upham, K.M., Forman, E.J., Zhao, T., Treff, N.R., Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril 100 (2013), 624–630.
12. 12 Assou, S., Aït-Ahmed, O., El Messaoudi, S., Thierry, A.R., Hamamah, S., Non-invasive pre-implantation genetic diagnosis of X-linked disorders. Med Hypotheses 83 (2014), 506–508.
13. 13 Stigliani, S., Anserini, P., Venturini, P.L., Scaruffi, P., Mitochondrial DNA content in embryo culture medium is significantly associated with human embryo fragmentation. Hum Reprod 28 (2013), 2652–2660.
14. 14 Stigliani, S., Persico, L., Lagazio, C., Anserini, P., Venturini, P.L., Scaruffi, P., Mitochondrial DNA in Day 3 embryo culture medium is a novel, non-invasive biomarker of blastocyst potential and implantation outcome. Mol Hum Reprod 20 (2014), 1238–1246.
15. 15 Wu, H., Ding, C., Shen, X., Wang, J., Li, R., Cai, B., et al. Medium-based noninvasive preimplantation genetic diagnosis for human α-thalassemias-SEA. Medicine, 94, 2015, 669.
16. 16 Palini, S., Galluzzi, L., De Stefani, S., Bianchi, M., Wells, D., Magnani, M., et al. Genomic DNA in human blastocoele fluid. Reprod BioMed Online 26 (2013), 603–610.
17. 17 Gianaroli, L., Magli, M.C., Pomante, A., Crivello, A.M., Cafueri, G., Valerio, M., et al. Blastocentesis: a source of DNA for preimplantation genetic testing: results from a pilot study. Fertil Steril 102 (2014), 1692–1699.e6.
18. 18 Magli, M.C., Pomante, A., Cafueri, G., Valerio, M., Crippa, A., Ferraretti, A.P., et al. Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid?. Fertil Steril 105 (2016), 676–683.
19. 19 Tobler, K.J., Zhao, Y., Ross, R., Benner, A.T., Xu, X., Du, L., et al. Blastocoel fluid from differentiated blastocysts harbors embryonic genomic material capable of a whole-genome deoxyribonucleic acid amplification and comprehensive chromosome microarray analysis. Fertil Steril 104 (2015), 418–425.
20. 20 Hammond, E.R., Shelling, A.N., Cree, L.M., Nuclear and mitochondrial DNA in blastocoele fluid and embryo culture medium: evidence and potential clinical use. Hum Reprod 31 (2016), 1653–1661.
21. 21 Sudmant, P.H., Kitzman, J.O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., et al. Diversity of human copy number variation and multicopy genes. Science 330 (2010), 641–646.
22. 22 Nickkholgh, B., Noordam, M.J., Hovingh, S.E., van Pelt, M.A., van der Veen, F., Repping, S., Y chromosome TSPY copy numbers and semen quality. Fertil Steril 94 (2010), 1744–1747.
23. 23 Hammond, E.R., Green, M.P., Shelling, A.N., Berg, M.C., Peek, J.C., Cree, L.M., Oocyte mitochondrial deletions and heteroplasmy in a bovine model of ageing and ovarian stimulation. Mol Hum Reprod 22 (2016), 261–271.
24. 24 Malonga, H., Neault, J.F., Arakawa, H., Tajmir-Riahi, H.A., DNA Interaction with human serum albumin studied by affinity capillary electrophoresis and FTIR spectroscopy. DNA Cell Biol 25 (2006), 63–68.
25. 25 Morbeck, D.E., Paczkowski, M., Fredrickson, J.R., Krisher, R.L., Hoff, H.S., Baumann, N.A., et al. Composition of protein supplements used for human embryo culture. J Assist Reprod Genet 31 (2014), 1703–1711.
26. 26 Xu, X.P., Gan, H.Y., Li, F.X., Tian, Q., Zhang, J., Liang, R.L., et al. A method to quantify cell-free fetal DNA fraction in maternal plasma using next generation sequencing: its application in non-invasive prenatal chromosomal aneuploidy detection. PLoS One, 11, 2016, e0146997.
27. 27 Hardy, K., Handyside, A.H., Winston, R.M., The human blastocyst: cell number, death and allocation during late preimplantation development in vitro. Development 107 (1989), 597–604.
28. 28 Hardy, K., Stark, J., Winston, R.M., Maintenance of the inner cell mass in human blastocysts from fragmented embryos. Biol Reprod 68 (2003), 1165–1169.
29. 29 Bolton, H., Graham, S.J., Van der Aa, N., Kumar, P., Theunis, K., Fernandez, G.E., et al. Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. Nat Commun, 29, 2016, 11165.
30. 30 Van Blerkom, J., Mitochondria as regulatory forces in oocytes, preimplantation embryos and stem cells. Reprod Biomed Online 16 (2008), 553–569.
31. 31 Cree, L.M., Hammond, E.R., Shelling, A.N., Berg, M.C., Peek, J.C., Green, M.P., Maternal age and ovarian stimulation independently affect oocyte mtDNA copy number and cumulus cell gene expression in bovine clones. Hum Reprod 30 (2015), 1410–1420.
32. 32 Poli, M., Jaroudi, S., Sarasa, J., Spath, K., Child, T., Wells, D., The blastocoel fluid as a source of DNA for preimplantation genetic diagnosis and screening. [abstract] Fertil Steril, 100(Suppl), 2013, S37.
33. 33 Diez-Juan, A., Rubio, C., Marin, C., Martinez, S., Al-Asmar, N., Riboldi, M., et al. Mitochondrial DNA content as a viability score in human euploid embryos: less is better. Fertil Steril 104 (2015), 534–541.
34. 34 Fragouli, E., Spath, K., Alfarawati, S., Kaper, F., Craig, A., Michel, C., et al. Altered levels of mitochondrial DNA are associated with female age, aneuploidy, and provide an independent measure of embryonic implantation potential. PLoS Genet, 11, 2015, e1005241.
35. 35 Tan, Y., Yin, X., Zhang, S., Jiang, H., Tan, K., Li, J., et al. Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing. Gigascience, 4, 2014, 30.