Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments

被引:171
作者
Spinella, Francesca [1 ]
Fiorentino, Francesco [1 ]
Biricik, Anil [1 ]
Bono, Sara [1 ]
Ruberti, Alessandra [2 ]
Cotroneo, Ettore [1 ]
Baldi, Marina [1 ]
Cursio, Elisabetta [2 ]
Minasi, Maria Giulia [2 ]
Greco, Ermanno [2 ]
机构
[1] GENOMA Grp, Mol Genet Labs, Via Castel Giubileo 11, I-00138 Rome, Italy
[2] European Hosp, Reprod Med, Rome, Italy
关键词
Preimplantation genetic screening; mosaic embryos; array-comparative genomic hybridization; next-generation sequencing; embryo aneuploidy; PREIMPLANTATION GENETIC DIAGNOSIS; COMPARATIVE GENOMIC HYBRIDIZATION; GENERATION SEQUENCING TECHNOLOGY; RANDOMIZED CONTROLLED-TRIAL; ADVANCED MATERNAL AGE; HUMAN BLASTOCYST; SELF-CORRECTION; HUMAN EMBRYOS; CYTOGENETIC ANALYSIS; ANEUPLOIDY;
D O I
10.1016/j.fertnstert.2017.09.025
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Objective: To assess whether the extent of chromosomal mosaicism can influence the success rate of IVF treatments. Design: Prospective study. Setting: Private genetic and assisted reproduction centers. Patient(s): The transfer of mosaic embryos was offered to 77 women for which IVF resulted in no euploid embryos available for transfer. Intervention(s): All embryos were cultured to blastocyst stage; trophectoderm biopsy was performed on day 5/6 of development. Comprehensive chromosome screening was performed using either next-generation sequencing or array-comparative genomic hybridization methodologies. Main Outcome Measure(s): The clinical outcome obtained after transfer of mosaic embryos with low (< 50%) and high (>= 50%) aneuploidy percentage was compared with that resulting from a control group of 251 euploid blastocysts. Result(s): A significantly higher implantation rate (48.9% vs. 24.2%), clinical pregnancy rate/ET (40.9% vs. 15.2%), and live-birth rate (42.2% vs. 15.2%) were observed comparing embryos with mosaicism < 50% and >= 50%. Mosaic embryos with high aneuploidy percentage (>= 50%) showed a significantly lower clinical pregnancy rate/ET (15.2% vs. 46.4%), implantation rate (24.4% vs. 54.6%), and live-birth rate (15.2% vs. 46.6%) than euploid blastocysts. In contrast, embryos with lower aneuploidy percentage (< 50%) have a clinical outcome similar to euploid embryos. Conclusion(s): The results of this study further confirm that mosaic embryos can develop into healthy euploid newborns. We demonstrated that the extent of mosaicism influences the IVF success rate. Mosaic embryos with low aneuploidy percentage have higher chances of resulting in the birth of healthy babies compared with embryos with higher mosaicism levels. (C) 2017 by American Society for Reproductive Medicine.
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收藏
页码:77 / 83
页数:7
相关论文
共 45 条
[1]   Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF [J].
Baart, EB ;
Martini, E ;
van den Berg, I ;
Macklon, NS ;
Galjaard, RJH ;
Fauser, BCJM ;
Van Opstal, D .
HUMAN REPRODUCTION, 2006, 21 (01) :223-233
[2]   Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential [J].
Barbash-Hazan, Shiri ;
Frumkin, Tsvia ;
Malcov, Mira ;
Yaron, Yuval ;
Cohen, Tania ;
Azem, Foad ;
Amit, Ami ;
Ben-Yosef, Dalit .
FERTILITY AND STERILITY, 2009, 92 (03) :890-896
[3]   Self-Correction of Chromosomal Abnormalities in Human Preimplantation Embryos and Embryonic Stem Cells [J].
Bazrgar, Masood ;
Gourabi, Hamid ;
Valojerdi, Mojtaba Rezazadeh ;
Yazdi, Poopak Eftekhari ;
Baharvand, Hossein .
STEM CELLS AND DEVELOPMENT, 2013, 22 (17) :2449-2456
[4]   Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening [J].
Besser, Andria G. ;
Mounts, Emily L. .
REPRODUCTIVE BIOMEDICINE ONLINE, 2017, 34 (04) :369-374
[5]   Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential [J].
Bolton, Helen ;
Graham, Sarah J. L. ;
Van der Aa, Niels ;
Kumar, Parveen ;
Theunis, Koen ;
Gallardo, Elia Fernandez ;
Voet, Thierry ;
Zernicka-Goetz, Magdalena .
NATURE COMMUNICATIONS, 2016, 7
[6]  
Dagan W, 2017, HUM GENET, V108, P62
[7]   Updated and revised nomenclature for description of early pregnancy events [J].
Farquharson, RG ;
Jauniaux, E ;
Exalto, N .
HUMAN REPRODUCTION, 2005, 20 (11) :3008-3011
[8]  
Fiorentino F, 2013, HUM REPROD, V28, P49
[9]   PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization [J].
Fiorentino, F. ;
Spizzichino, L. ;
Bono, S. ;
Biricik, A. ;
Kokkali, G. ;
Rienzi, L. ;
Ubaldi, F. M. ;
Iammarrone, E. ;
Gordon, A. ;
Pantos, K. .
HUMAN REPRODUCTION, 2011, 26 (07) :1925-1935
[10]   Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles [J].
Fiorentino, Francesco ;
Bono, Sara ;
Biricik, Anil ;
Nuccitelli, Andrea ;
Cotroneo, Ettore ;
Cottone, Giuliano ;
Kokocinski, Felix ;
Michel, Claude-Edouard ;
Minasi, Maria Giulia ;
Greco, Ermanno .
HUMAN REPRODUCTION, 2014, 29 (12) :2802-2813