SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts.
SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts.
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DOI：
10.1007/s10815-016-0734-0
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发表时间：
2016-08
影响因子：
3.1
通讯作者：
Forman EJ
中科院分区：
文献类型：
--
作者：
Treff NR;Thompson K;Rafizadeh M;Chow M;Morrison L;Tao X;Garnsey H;Reda CV;Metzgar TL;Neal S;Jalas C;Scott RT Jr;Forman EJ
该研究的目的是验证一种方法，该方法提供了一个机会，以区分平衡易位载体胚胎与真正正常的胚胎，同时进行全面的染色体筛查（CCS）。对148个胚胎进行了基于单核苷酸多态性（SNP）阵列CCS的体外受精的一系列易位载体夫妇进行了研究。根据胚胎SNP基因型预测每个胚胎的平衡或正常状态。在一种情况下，微缺失状态被用来指定胚胎是否平衡或正常。在另外10例病例中，对新生儿进行常规核型分析，以确定原始移植胚胎的真实遗传状态（平衡或正常）。最后比较平衡胚胎和正常胚胎的着床潜力。使用不平衡胚胎进行SNPs分期可以准确预测移植胚胎是平衡易位携带者还是在迄今为止完成的所有病例中真正正常（与新生儿常规核型100%一致）。平衡胚胎与正常胚胎着床潜能无差异。本研究证明了CCS方法能够区分正常和平衡易位载体胚胎的有效性。唯一的先决条件是父母DNA的可用性和不平衡的体外受精胚胎，使该方法适用于大多数携带夫妇。此外，SNP阵列平台允许在同一平台和同一活检中同时进行非整倍体的CCS。未来的工作将包括前瞻性的预测，以选择正常胚胎和随后的新生儿核型。
The purpose of the study is to validate a method that provides the opportunity to distinguish a balanced translocation carrier embryo from a truly normal embryo in parallel with comprehensive chromosome screening (CCS). A series of translocation carrier couples that underwent IVF with single nucleotide polymorphism (SNP) array-based CCS on 148 embryos were included. Predictions of balanced or normal status of each embryo were made based upon embryonic SNP genotypes. In one case, microdeletion status was used to designate whether embryos were balanced or normal. In 10 additional cases, conventional karyotyping was performed on newborns in order to establish the true genetic status (balanced or normal) of the original transferred embryo. Finally, implantation potential of balanced or normal embryos was compared. Phasing SNPs using unbalanced embryos allowed accurate prediction of whether transferred embryos were balanced translocation carriers or truly normal in all cases completed to date (100 % concordance with conventional karyotyping of newborns). No difference in implantation potential of balanced or normal embryos was observed. This study demonstrates the validity of a CCS method capable of distinguishing normal from balanced translocation carrier embryos. The only prerequisite is the availability of parental DNA and an unbalanced IVF embryo, making the method applicable to the majority of carrier couples. In addition, the SNP array platform allows simultaneous CCS for aneuploidy with the same platform and from the same biopsy. Future work will involve prospective predictions to select normal embryos with subsequent karyotyping of the resulting newborns.