Skip to main content
Top
Published in: Journal of Assisted Reproduction and Genetics 7/2011

01-07-2011 | Genetics

Reliable preimplantation genetic diagnosis in thawed human embryos vitrified at cleavage stages without biopsy

Authors: Li Zhang, Ahmet Yilmaz, Ri-Cheng Chian, Weon-Young Son, Xiao Yun Zhang, Dewen Kong, Michael Dahan, Hannanel Holzer, Seang Lin Tan, Asangla Ao

Published in: Journal of Assisted Reproduction and Genetics | Issue 7/2011

Login to get access

Abstract

Purpose

To evaluate preimplantation genetic diagnosis (PGD) efficiency in thawed human embryos vitrified without biopsy.

Methods

In this retrospective clinical study, 21 PGD cycles were carried out using fresh and vitrified-thawed embryos collected from 21 patients.

Results

One hundred and ninety-nine embryos from patients with aneuploidy, single gene defects, or chromosomal translocations were vitrified at the cleavage stages; 93.5% of the embryos survived the vitrification procedure. Conclusive FISH results were obtained in 98.4% of the fresh and 99% of the frozen-thawed embryos screened for aneuploidy or chromosomal translocations. Conclusive PCR test results were obtained in 100% of the fresh and 93.9% of the frozen-thawed embryos screened for single gene defects. The overall clinical pregnancy rate per cycle was 57.1%. To date, 13 healthy children have been born.

Conclusion

Reliable genetic diagnosis can be performed in thawed human embryos vitrified without biopsy. However, further research is required to support this conclusion.
Literature
1.
go back to reference Obradors A, Fernandez E, Oliver-Bonet M, Rius M, de la Fuente A, Wells D, et al. Birth of a healthy boy after a double factor PGD in a couple carrying a genetic disease and at risk for aneuploidy: case report. Hum Reprod. 2008;23:1949–56.PubMedCrossRef Obradors A, Fernandez E, Oliver-Bonet M, Rius M, de la Fuente A, Wells D, et al. Birth of a healthy boy after a double factor PGD in a couple carrying a genetic disease and at risk for aneuploidy: case report. Hum Reprod. 2008;23:1949–56.PubMedCrossRef
2.
go back to reference Edwards RG, Handyside AH. Future developments in IVF. Br Med Bull. 1990;46:823–41.PubMed Edwards RG, Handyside AH. Future developments in IVF. Br Med Bull. 1990;46:823–41.PubMed
3.
go back to reference Rezazadeh Valojerdi M, Eftekhari-Yazdi P, Karimian L, Hassani F, Movaghar B. Vitrification versus slow freezing gives excellent survival, post warming embryo morphology and pregnancy outcomes for human cleaved embryos. J Assist Reprod Genet. 2009;26:347–54.PubMedCrossRef Rezazadeh Valojerdi M, Eftekhari-Yazdi P, Karimian L, Hassani F, Movaghar B. Vitrification versus slow freezing gives excellent survival, post warming embryo morphology and pregnancy outcomes for human cleaved embryos. J Assist Reprod Genet. 2009;26:347–54.PubMedCrossRef
4.
go back to reference Son WY, Chung JT, Gidoni Y, Holzer H, Levin D, Chian RC, et al. Comparison of survival rate of cleavage stage embryos produced from in vitro maturation cycles after slow freezing and after vitrification. Fertil Steril. 2009;92:956–8.PubMedCrossRef Son WY, Chung JT, Gidoni Y, Holzer H, Levin D, Chian RC, et al. Comparison of survival rate of cleavage stage embryos produced from in vitro maturation cycles after slow freezing and after vitrification. Fertil Steril. 2009;92:956–8.PubMedCrossRef
5.
go back to reference Cao YX, Xing Q, Li L, Cong L, Zhang ZG, Wei ZL, et al. Comparison of survival and embryonic development in human oocytes cryopreserved by slow-freezing and vitrification. Fertil Steril. 2009;92:1306–11.PubMedCrossRef Cao YX, Xing Q, Li L, Cong L, Zhang ZG, Wei ZL, et al. Comparison of survival and embryonic development in human oocytes cryopreserved by slow-freezing and vitrification. Fertil Steril. 2009;92:1306–11.PubMedCrossRef
6.
go back to reference Check ML, Check JH, Summers-Chase D. A successful pregnancy from zygotes cryopreserved for >9 years: case report. Clin Exp Obstet Gynecol. 2001;28:91.PubMed Check ML, Check JH, Summers-Chase D. A successful pregnancy from zygotes cryopreserved for >9 years: case report. Clin Exp Obstet Gynecol. 2001;28:91.PubMed
7.
go back to reference Jericho H, Wilton L, Gook DA, Edgar DH. A modified cryopreservation method increases the survival of human biopsied cleavage stage embryos. Hum Reprod. 2003;18:568–71.PubMedCrossRef Jericho H, Wilton L, Gook DA, Edgar DH. A modified cryopreservation method increases the survival of human biopsied cleavage stage embryos. Hum Reprod. 2003;18:568–71.PubMedCrossRef
8.
go back to reference Kahraman S, Candan ZN. Outcomes of vitrified-warmed day-4 embryos after day-3 cleavage-stage biopsy. Reprod Biomed Online. 2010;21:636–41.PubMedCrossRef Kahraman S, Candan ZN. Outcomes of vitrified-warmed day-4 embryos after day-3 cleavage-stage biopsy. Reprod Biomed Online. 2010;21:636–41.PubMedCrossRef
9.
go back to reference Magli MC, Gianaroli L, Fortini D, Ferraretti AP, Munne S. Impact of blastomere biopsy and cryopreservation techniques on human embryo viability. Hum Reprod. 1999;14:770–3.PubMedCrossRef Magli MC, Gianaroli L, Fortini D, Ferraretti AP, Munne S. Impact of blastomere biopsy and cryopreservation techniques on human embryo viability. Hum Reprod. 1999;14:770–3.PubMedCrossRef
10.
go back to reference Escriba MJ, Zulategui JF, Galan A, Mercader A, Remohi J, de los Santos MJ. Vitrification of preimplantation genetically diagnosed human blastocysts and its contribution to the cumulative ongoing pregnancy rate per cycle by using a closed device. Fertil Steril. 2008;89:840–6.PubMedCrossRef Escriba MJ, Zulategui JF, Galan A, Mercader A, Remohi J, de los Santos MJ. Vitrification of preimplantation genetically diagnosed human blastocysts and its contribution to the cumulative ongoing pregnancy rate per cycle by using a closed device. Fertil Steril. 2008;89:840–6.PubMedCrossRef
11.
go back to reference Lathi RB, Behr B. Pregnancy after trophectoderm biopsy of frozen-thawed blastocyst. Fertil Steril. 2009;91:1938–40.PubMedCrossRef Lathi RB, Behr B. Pregnancy after trophectoderm biopsy of frozen-thawed blastocyst. Fertil Steril. 2009;91:1938–40.PubMedCrossRef
12.
go back to reference McArthur SJ, Leigh D, Marshall JT, de Boer KA, Jansen RP. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril. 2005;84:1628–36.PubMedCrossRef McArthur SJ, Leigh D, Marshall JT, de Boer KA, Jansen RP. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril. 2005;84:1628–36.PubMedCrossRef
13.
go back to reference Joris H, Van den Abbeel E, Vos AD, Van Steirteghem A. Reduced survival after human embryo biopsy and subsequent cryopreservation. Hum Reprod. 1999;14:2833–7.PubMedCrossRef Joris H, Van den Abbeel E, Vos AD, Van Steirteghem A. Reduced survival after human embryo biopsy and subsequent cryopreservation. Hum Reprod. 1999;14:2833–7.PubMedCrossRef
14.
go back to reference Zheng WT, Zhuang GL, Zhou CQ, Fang C, Ou JP, Li T, et al. Comparison of the survival of human biopsied embryos after cryopreservation with four different methods using non-transferable embryos. Hum Reprod. 2005;20:1615–8.PubMedCrossRef Zheng WT, Zhuang GL, Zhou CQ, Fang C, Ou JP, Li T, et al. Comparison of the survival of human biopsied embryos after cryopreservation with four different methods using non-transferable embryos. Hum Reprod. 2005;20:1615–8.PubMedCrossRef
15.
go back to reference Ciotti PM, Lagalla C, Ricco AS, Fabbri R, Forabosco A, Porcu E. Micromanipulation of cryopreserved embryos and cryopreservation of micromanipulated embryos in PGD. Mol Cell Endocrinol. 2000;169:63–7.PubMedCrossRef Ciotti PM, Lagalla C, Ricco AS, Fabbri R, Forabosco A, Porcu E. Micromanipulation of cryopreserved embryos and cryopreservation of micromanipulated embryos in PGD. Mol Cell Endocrinol. 2000;169:63–7.PubMedCrossRef
16.
go back to reference Feyereisen E, Steffann J, Romana S, Lelorc’h M, Ray P, Kerbrat V, et al. Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles. Fertil Steril. 2007;87:60–73.PubMedCrossRef Feyereisen E, Steffann J, Romana S, Lelorc’h M, Ray P, Kerbrat V, et al. Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles. Fertil Steril. 2007;87:60–73.PubMedCrossRef
17.
go back to reference Frydman N, Ray P, Romana S, Fanchin R, Lelorc’h M, Kerbrat V, et al. First birth after preimplantation genetic diagnosis performed on thawed embryos. J Gynecol Obstet Biol Reprod (Paris). 2003;32:363–7. Frydman N, Ray P, Romana S, Fanchin R, Lelorc’h M, Kerbrat V, et al. First birth after preimplantation genetic diagnosis performed on thawed embryos. J Gynecol Obstet Biol Reprod (Paris). 2003;32:363–7.
18.
go back to reference Baart EB, Van Opstal D, Los FJ, Fauser BC, Martini E. Fluorescence in situ hybridization analysis of two blastomeres from day 3 frozen-thawed embryos followed by analysis of the remaining embryo on day 5. Hum Reprod. 2004;19:685–93.PubMedCrossRef Baart EB, Van Opstal D, Los FJ, Fauser BC, Martini E. Fluorescence in situ hybridization analysis of two blastomeres from day 3 frozen-thawed embryos followed by analysis of the remaining embryo on day 5. Hum Reprod. 2004;19:685–93.PubMedCrossRef
19.
go back to reference Dean NL, Tan SL, Ao A. The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application. Mol Hum Reprod. 2001;7:895–901.PubMedCrossRef Dean NL, Tan SL, Ao A. The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application. Mol Hum Reprod. 2001;7:895–901.PubMedCrossRef
20.
go back to reference Zhang XY, Ata B, Son WY, Buckett WM, Tan SL, Ao A. Chromosome abnormality rates in human embryos obtained from in-vitro maturation and IVF treatment cycles. Reprod Biomed Online. 2010;21:552–9.PubMedCrossRef Zhang XY, Ata B, Son WY, Buckett WM, Tan SL, Ao A. Chromosome abnormality rates in human embryos obtained from in-vitro maturation and IVF treatment cycles. Reprod Biomed Online. 2010;21:552–9.PubMedCrossRef
21.
go back to reference Bielanska M, Tan SL, Ao A. Chromosomal mosaicism throughout human preimplantation development in vitro: incidence, type, and relevance to embryo outcome. Hum Reprod. 2002;17:413–9.PubMedCrossRef Bielanska M, Tan SL, Ao A. Chromosomal mosaicism throughout human preimplantation development in vitro: incidence, type, and relevance to embryo outcome. Hum Reprod. 2002;17:413–9.PubMedCrossRef
22.
go back to reference Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.PubMedCrossRef Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.PubMedCrossRef
23.
go back to reference Harper JC, Boelaert K, Geraedts J, Harton G, Kearns WG, Moutou C, et al. ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod. 2006;21:3–21.PubMedCrossRef Harper JC, Boelaert K, Geraedts J, Harton G, Kearns WG, Moutou C, et al. ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod. 2006;21:3–21.PubMedCrossRef
24.
go back to reference Hiraoka K, Hiraoka K, Horiuchi T, Kusuda T, Okano S, Kinutani M, et al. Impact of the size of zona pellucida thinning area on vitrified-warmed cleavage-stage embryo transfers: a prospective, randomized study. J Assist Reprod Genet. 2009;26:515–21.PubMedCrossRef Hiraoka K, Hiraoka K, Horiuchi T, Kusuda T, Okano S, Kinutani M, et al. Impact of the size of zona pellucida thinning area on vitrified-warmed cleavage-stage embryo transfers: a prospective, randomized study. J Assist Reprod Genet. 2009;26:515–21.PubMedCrossRef
25.
go back to reference Gabrielsen A, Agerholm I, Toft B, Hald F, Petersen K, Aagaard J, et al. Assisted hatching improves implantation rates on cryopreserved-thawed embryos. A randomized prospective study. Hum Reprod. 2004;19:2258–62.PubMedCrossRef Gabrielsen A, Agerholm I, Toft B, Hald F, Petersen K, Aagaard J, et al. Assisted hatching improves implantation rates on cryopreserved-thawed embryos. A randomized prospective study. Hum Reprod. 2004;19:2258–62.PubMedCrossRef
26.
go back to reference Van de Voort CA, Hung PH, Schramm RD. Prevention of zona hardening in non-human primate oocytes cultured in protein-free medium. J Med Primatol. 2007;36:10–16.CrossRef Van de Voort CA, Hung PH, Schramm RD. Prevention of zona hardening in non-human primate oocytes cultured in protein-free medium. J Med Primatol. 2007;36:10–16.CrossRef
27.
go back to reference Balaban B, Urman B, Ata B, Isiklar A, Larman MG, Hamilton R, et al. A randomized controlled study of human Day 3 embryo cryopreservation by slow freezing or vitrification: vitrification is associated with higher survival, metabolism and blastocyst formation. Hum Reprod. 2008;23:1976–82.PubMedCrossRef Balaban B, Urman B, Ata B, Isiklar A, Larman MG, Hamilton R, et al. A randomized controlled study of human Day 3 embryo cryopreservation by slow freezing or vitrification: vitrification is associated with higher survival, metabolism and blastocyst formation. Hum Reprod. 2008;23:1976–82.PubMedCrossRef
Metadata
Title
Reliable preimplantation genetic diagnosis in thawed human embryos vitrified at cleavage stages without biopsy
Authors
Li Zhang
Ahmet Yilmaz
Ri-Cheng Chian
Weon-Young Son
Xiao Yun Zhang
Dewen Kong
Michael Dahan
Hannanel Holzer
Seang Lin Tan
Asangla Ao
Publication date
01-07-2011
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 7/2011
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-011-9556-2

Other articles of this Issue 7/2011

Journal of Assisted Reproduction and Genetics 7/2011 Go to the issue