Reproductive Medicine Associates of New Jersey, Morristown, NJ 07960, USA.
J Assist Reprod Genet. 2013 Jun;30(6):787-91. doi: 10.1007/s10815-013-0008-z. Epub 2013 May 31.
To demonstrate that translocation carrier patients can be identified by analysis of chromosomes in preimplantation human embryos.
A report of 3 cases in which multiple embryos were found to possess consistent segmental imbalances by CCS. The parents then had a conventional karyotype performed.
In each case, parental karyotyping revealed the presence of an otherwise unknown balanced translocation. Original blastocyst CCS results were then reinterpreted to consider the presence of unbalanced derivative chromosomes and to modify the diagnosis of embryos eligible for transfer.
It is possible to identify patients that are carriers of balanced translocations through the analysis of chromosomes in their IVF-derived embryos. Given that translocation carrier screening is not routinely performed, the growing use of CCS may facilitate discovery and provide both an etiology of reproductive failure and an improved more focused treatment strategy going forward. Future work will involve a large retrospective study to define the sensitivity and frequency of detection using this methodology.
通过分析植入前人类胚胎中的染色体，证明易位携带者患者可以被识别。
报告了 3 例通过 CCS 发现多个胚胎存在一致的片段性失衡的情况。然后，父母进行了常规核型分析。
在每种情况下，父母的核型分析都显示存在未知的平衡易位。最初的囊胚 CCS 结果随后被重新解释，以考虑不平衡衍生染色体的存在，并修改可用于转移的胚胎的诊断。
通过分析体外受精衍生胚胎中的染色体，有可能识别出平衡易位携带者患者。鉴于目前并未常规进行易位携带者筛查，CCS 的广泛应用可能有助于发现，并提供生殖失败的病因，并为未来提供更有针对性的治疗策略。未来的工作将涉及一项大型回顾性研究，以确定使用这种方法的检测灵敏度和频率。
