Whittingham D G, Penketh R
Hum Reprod. 1987 Apr;2(3):267-70. doi: 10.1093/oxfordjournals.humrep.a136530.
There is a clinical need for prenatal diagnosis before implantation for patients at high genetic risk who are unable to face the uncertainty of a pregnancy associated with conventional diagnostic methods, as well as for IVF patients who are at high risk for genetic or chromosomal anomalies. Research on human pre-embryos is required to establish: biopsy techniques during cleavage and at the blastocyst stage, in-vitro viability after biopsy, the culture potential of cells removed at these stages, cryopreservation of biopsied pre-embryos, and diagnostic procedures on biopsy material. The consensus view was that blastocyst biopsy is the most likely to succeed. The possibility should be considered of obtaining blastocysts by uterine lavage for diagnostic purposes in fertile women at high genetic risk. However it would be unethical to use uterine lavage to obtain blastocysts for research purposes. Rapid methods of typing the embryos the avoid the need for cryostorage, but there was a consensus (among those on the laboratory diagnostic side) that cryostorage would relieve some of the pressure of the ongoing diagnosis, and allow unhurried detailed analysis. All those present agreed that there is a need for further scientific research to establish pre-implantation diagnosis as a clinical reality. Close collaboration between workers in the fields represented will be necessary to achieve this goal.
对于那些因传统诊断方法而面临妊娠不确定性且遗传风险高的患者，以及那些有遗传或染色体异常高风险的体外受精（IVF）患者，植入前进行产前诊断存在临床需求。需要对人类胚胎进行研究以确立：卵裂期和囊胚期的活检技术、活检后的体外存活能力、在这些阶段取出的细胞的培养潜力、活检后胚胎的冷冻保存以及对活检材料的诊断程序。共识观点是囊胚活检最有可能成功。对于遗传风险高的可育女性，应考虑通过子宫灌洗获取囊胚用于诊断目的。然而，利用子宫灌洗获取囊胚用于研究目的是不道德的。快速的胚胎分型方法可避免冷冻保存的需要，但（实验室诊断方面的人员）达成的共识是，冷冻保存将减轻持续诊断的一些压力，并允许从容进行详细分析。所有与会者一致认为，需要进一步开展科学研究以使植入前诊断成为临床现实。为实现这一目标，所代表领域的工作人员之间密切合作将是必要的。
