Chueh J, Golbus M S
Department of Obstetrics, Gynecology and Reproductive Sciences, UCSF School of Medicine 94143.
West J Med. 1993 Sep;159(3):308-11.
All current methods of fetal karyotyping are invasive and carry a definite, albeit small, procedure-related risk. Because of this and testing costs, only women older than 35 years who have a greater risk for fetal aneuploidy are currently offered prenatal testing. But this detects only 20% to 25% of fetuses with Down syndrome. It would be a tremendous advance to find a noninvasive technique for prenatal diagnosis that carries no procedure-related risk and could be offered to all pregnant women. We describe a possible technique for noninvasive prenatal diagnosis that aims to identify fetal cells in the peripheral maternal circulation and successfully garner them for prenatal testing. Early attempts at fetal karyotyping were hampered by inaccurate diagnostic methods and cumbersome cell-counting techniques. Today, improved capabilities of identifying and enriching for fetal cells, coupled with sensitive methods of analysis such as the polymerase chain reaction, bring renewed enthusiasm to this task. Many technical issues, as well as serious questions regarding the test's utility, still exist, however, and must be explored and answered before the capture of fetal cells in the maternal circulation translates into reality for noninvasive prenatal diagnosis.
目前所有的胎儿核型分析方法都是侵入性的，并且存在一定的、尽管很小但与操作相关的风险。由于这一点以及检测成本，目前仅为年龄超过35岁、胎儿非整倍体风险更高的女性提供产前检测。但这仅能检测出20%至25%的唐氏综合征胎儿。找到一种无操作相关风险且可提供给所有孕妇的非侵入性产前诊断技术将是一项巨大的进步。我们描述了一种可能的非侵入性产前诊断技术，其旨在识别母体外周循环中的胎儿细胞并成功获取它们用于产前检测。早期的胎儿核型分析尝试因诊断方法不准确和细胞计数技术繁琐而受阻。如今，识别和富集胎儿细胞的能力有所提高，再加上诸如聚合酶链反应等灵敏的分析方法，为这项任务带来了新的热情。然而，许多技术问题以及关于该检测实用性的严重疑问仍然存在，并且在母体循环中捕获胎儿细胞转化为非侵入性产前诊断的实际应用之前，必须进行探索并得到解答。
