囊胚期切片比8細胞期切片更適於胚胎植入前診斷

囊胚期胚胎滋養細胞(trophectoderm)切片(ICM對側trophectoderm施行assisted hatching & biopsy)---可達地中海貧血診斷率: 94%，ET後著床率: 46%
8-12細胞期胚胎之胚葉細胞切片---可達地中海貧血診斷率: 75%，ET後著床率: 26%


結論: 囊胚期胚胎滋養細胞比8-12細胞期胚葉細胞切片更適於胚胎植入前診斷(PGD)地中海貧血



http://humrep.oxfordjournals.org/content/22/5/1443.full


Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of β-thalassaemia: a pilot study

1. G. Kokkali1,2,6, 
2. J. Traeger-Synodinos2, 
3. C. Vrettou2,3, 
4. D. Stavrou1,
5. G.M. Jones4, 
6. D.S. Cram4,5, 
7. E. Makrakis1, 
8. A.O. Trounson4,5, 
9. E. Kanavakis2and 
10. K. Pantos1

+Author Affiliations

1. ¹Centre for Human Reproduction, Genesis Hospital, Athens, Greece
2. ²Laboratory of Medical Genetics, Athens University
3. ³Research Institute for the Study of Genetic and Malignant Disorders in Childhood, St Sophia's Children's Hospital, Athens, Greece
4. ⁴Monash Immunology and Stem Cell Laboratories, Monash University, Melbourne, Australia
5. ⁵Monash IVF, Melbourne, Australia

1. 6To whom correspondence should be addressed at: Center for Human Reproduction, Genesis Hospital, Papanikoli Avenue 14-16, Halandri, Athens 152-32, Greece. E-mail:georgiakokkali@mail.com

• Received November 24, 2005.
• Revision requested July 4, 2006.
• Revision received September 21, 2006.
• Accepted September 25, 2006.

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Abstract

BACKGROUND Trophectoderm biopsy at the blastocyst stage is an emerging approach in preimplantation genetic diagnosis (PGD). This study aimed to compare genotyping success and implantation rates in PGD cycles for β-thalassaemia following biopsy at the cleavage versus the blastocyst stage, with transfer of blastocysts.

METHODS This pilot study included 20 cycles: Group A: 10 cycles, day 3 blastomere biopsy, day 5 transfer; Group B: 10 cycles, day 5 trophectoderm biopsy, day 6 transfer. Standard-assisted reproduction and laser biopsy procedures were used. Biopsied cells were genotyped using real-time PCR multiplexed with fluorescent microsatellite analysis.

RESULTS In Group A, 131 fertilized eggs developed to 101 embryos suitable for single blastomere biopsy; 76/101 blastomeres were diagnosed (75.2%), 30 unaffected blastocysts were transferred resulting in six pregnancies (eight fetal hearts, 26.7% implantation rate). In Group B, 128 fertilized eggs developed to 53 blastocysts for trophectoderm biopsy (four to five cells), with 50/53 blastocysts diagnosed (94.3%), 21 unaffected blastocysts transferred and 6 pregnancies initiated (10 fetal hearts, 47.6% implantation rate). Overall, nine pregnancies reached >10 weeks gestation and were confirmed unaffected by prenatal diagnosis, with 12 healthy babies born.

CONCLUSIONS This pilot study suggests that trophectoderm biopsy and blastocyst transfer may be more advantageous than cleavage stage biopsy with respect to outcome of PGD for monogenic diseases.