Hultén Maj A, Dhanjal Seema, Pertl Barbara
Department of Biological Sciences, University of Warwick, Coventry CV4 7AL, UK.
Reproduction. 2003 Sep;126(3):279-97. doi: 10.1530/rep.0.1260279.
Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.
已经开发出分子技术用于产前诊断最常见的染色体疾病（21三体、13三体、18三体和性染色体非整倍体），检测结果可在一两天内获得。这涉及荧光原位杂交（FISH）以及对胎儿细胞进行显微镜分析，或对胎儿DNA进行定量荧光聚合酶链反应（QF-PCR）。文中针对建立和运行这些方法时的技术陷阱提供了指导。两种方法都很可靠，误诊风险较低，尽管FISH的误诊风险略高一些。FISH也比QF-PCR更耗费人力，后者更易于实现自动化。这些检测已被用作显微镜下全染色体分析的前奏。然而，有一种趋势是将这些检测作为针对生育染色体疾病患儿风险相对较低的女性的“独立”检测方法，尤其是那些与高龄或母血清筛查项目结果相关的女性。在目前提供胎儿染色体疾病产前诊断的人群中，这些女性占大多数，如果更广泛地采用FISH和QF-PCR检测，将节省大量费用。另一方面，这意味着每500至1000例患有智力和/或身体残疾的染色体疾病病例中，约有1例会仍未被诊断出来。
