期刊文献+

array CGH和SNP array技术在胚胎植入前遗传学诊断中的应用比较 被引量:8

Comparison of CGH array and SNP array in preimplantation genetic diagnosis
下载PDF
导出
摘要 目的:比较两种微阵列技术在不同时期活检及移植时机对染色体易位携带者行胚胎植入前遗传学诊断(PGD)对诊断结果及妊娠结局的影响。方法:对染色体易位携带者行PGD的152个活检周期资料进行回顾性分析,其中60个a CGH-PGD周期采用D3卵裂球活检并新鲜周期移植的策略,92个SNP-PGD周期采用滋养外胚层活检并冷冻周期移植的策略,将两组的诊断结果及妊娠结局进行比较。结果:SNP-PGD与a CGH-PGD在无胚胎移植周期方面无明显差异;在诊断正常率上,SNP-PGD高于a CGH-PGD,两者间差异有统计学意义;移植周期临床妊娠率方面,SNP-PGD高于a CGH-PGD,而早期流产及胎停率则低于后者。结论:采用滋养外胚层活检并冷冻周期移植可能有助于获得较好的妊娠结局。 Objective To compare two kinds of strategies of preimplantation genetic diagnosis (PGD) to evaluate embryos for reciprocal and robertsonian translocation carriers. Methods A total of 152 PGD cycles for chromosomal translocation were performed from April 2012 to June 2014, including 60 aCGH-PGD cycles using blastomere biopsy and fresh embryo transfer, and 92 SNP-PGD cycles using blastocyst biopsy and thawed embryo transfer. The diagnosis results and clinical outcome with these two kinds of strategies were compared. Results No significant difference was found in the cycles of no embryo transfer between SNP-PGD and aCGH- PGD. The normal rate in SNP-PGD was 33.8%, which was significant higher than that of aCGH-PGD. The clinical pregnancy rate per embryo transfer in SNP-PGD was higher than that in aCGH-PGD, but the misscarrage rate and embryo damage rate were lower than those in aCGH-PGD. Conclusions The PGD strategy of applying blastocyst biopsy, SNP array, embryo cryopreservation and thawed ET leads to a better clinical outcome. It may be a promising choice for future PGD treatment for carriers with chromosomal translocation.
作者 王静 丁晨晖
出处 《实用医学杂志》 CAS 北大核心 2015年第17期2822-2826,共5页 The Journal of Practical Medicine
基金 中山大学青年教师培育计划项目(编号:12ykpy23) 广州市科技计划项目(编号:201300000097)
关键词 易位 遗传 植入前遗传学诊断 微阵列技术 Translocation, genetic Preimplantation genetic diagnose Microarray technology
  • 相关文献

参考文献12

  • 1Fryns JP, Van Buggenhout G. Structural chromosome rearrangements in couples with recurrent fetal wastage [ J ]. Eur J Obstet Gynecol Reprod Biol, 1998,81(2):171-176.
  • 2Keymolen K, Staessen C, Verpoest W, et al. A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis [ J ]. Hum Reprod, 2009,24 ( 9 ) : 2365-2371.
  • 3Fischer J, Colls P, Escudero T, et al. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses [ J ]. Fertil Steril, 2010,94( 1 ) :283-289.
  • 4Tobler K J, Brezina PR, Benner AT, et al. Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates [ J ]. J Assist Reprod Genet, 2014,31(7) :843-850.
  • 5王静,丁晨晖,徐艳文,曾艳红,李荣,周灿权.传统的荧光原位杂交与单核苷酸多态性微阵列技术在植入前遗传学诊断中的比较[J].中山大学学报(医学科学版),2015,36(2):251-256. 被引量:3
  • 6Johnson DS, Gemelos G, Baner J, et al. Preclinieal validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol [J ]. Hum Reprod, 2010,25 (4) : 1066 - 1075.
  • 7Papenhausen P, Schwartz S, Risheg H, et al. UPD detection using homozygosity profiling with a SNP genotyping microarray [J]. Am J Med Genet, 2011,155A(4) :757-768.
  • 8Wilton L. Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative gcnomic hybridization [J] . Hum Reprod Update, 2005,11 ( 1 ) : 33-41.
  • 9Huang CC, Chang LJ, Tsai YY, et al. A feasible strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation: Using blastoeyst biopsy and array comparative genomic hybridization [J]. J Formos Med Assoc, 2013,112 (9) :537-544.
  • 10Devroey P, Polyzos NP, Blockeel C. An OHSS-Free Clinic by segmentation of IVF treatment [J]. Hum Reprod, 2011,26 (10) : 2593-2597.

二级参考文献19

  • 1Fryns JP, Van Buggenhout G. Structural chromosomerearrangements in couples with recurrent fetal wastage[J]. Eur J Obstet Gynecol Reprod Biol, 1998,81 (2);171-176.
  • 2Lim CK, Cho JW, Song 10,et al. Estimation ofchromosomal imbalances in preimplantation embryosfrom preimplantation genetic diagnosis cycles ofreciprocal translocations with or without acrocentricchromosomes [J]. Fertil Steril,2008,90 (6) ; 2144-2151.
  • 3Fiorentino F, Kokkali G, Biricik A, et al. Polymerasechain reaction -based detection of chromosomalimbalances on embryos : the evolution of preimplantationgenetic diagnosis for chromosomal translocations [J].Fertil Steril, 2010,94(6): 2001-2011.
  • 4Fragouli E, Lenzi M, Ross R, et al. Comprehensivemolecular cytogenetic analysis of the human blastocyststage[J]. Hum Reprod, 2008, 23(11); 2596-2608.
  • 5Tobler KJ, Brezina PR, Benner AT, et al.Two differentmicroarray technologies for preimplantation geneticdiagnosis and screening,due to reciprocal translocationimbalances, demonstrate equivalent euploidy andclinical pregnancy rates [J]. J Assist Reprod Genet,2014, 31(7), 843-850.
  • 6Treff NR, Northrop LE, KasabwalaK,et al. Singlenucleotide polymorphism microarray -based concurrentscreening of 24-chromosome aneuploidy and unbalancedtranslocations in preimplantation human embryos [J].Fertil Steril, 2011,95(5): 1606-1612.
  • 7Alfarawati S, Fragouli E,Colls P, et al. First birthsafter preimplantation genetic diagnosis of structuralchromosome abnormalities using comparative genomichybridization and microarray analysis [J]. Hum Reprod,2011,26(6); 1560-1574.
  • 8Fiorentino F,Spizzichino L,Bono S, et al. PGD forreciprocal and Robertsonian translocations using arraycomparative genomic hybridization [J]. Hum Reprod,2011,26(7): 1925-1935.
  • 9Huang CC,Chang IJ,Tsai YY,et al.A feasible strategyof preimplantation genetic diagnosis for carriers withchromosomal translocation : Using blastocyst biopsy andarray comparative genomic hybridization [J]. J FormosMed Assoc, 2013, 112(9): 537-544.
  • 10Tan QY, Tan K, Zhang SP, et al. Single -nucleotidepolymorphism microarray -based preimplantation geneticdiagnosis is likely to improve the clinical outcome fortranslocation carriers [J]. Hum Reprod, 2013,28(9):2581-2592.

共引文献2

同被引文献92

引证文献8

二级引证文献29

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部