Tóth T, Findlay I, Papp C, Tóth-Pál E, Marton T, Nagy B, Quirke P, Papp Z
I Department of Obstetrics and Gynaecology, Semmelweis University Medical School, Budapest, Hungary.
J Med Genet. 1998 Feb;35(2):126-9. doi: 10.1136/jmg.35.2.126.
Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis on amniotic fluid. This requires lengthy laboratory procedures and high costs, and is unsuitable for large scale screening of pregnant women. An alternative method, which is both rapid and inexpensive and suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction using polymorphic small tandem repeats (STRs). In this paper we present the preliminary results of a larger study comparing parallel prenatal diagnoses of trisomies 21 and 18 using cytogenetics with quantitative fluorescent polymerase chain reaction using STR markers. The results obtained by the two techniques were concordant in all cases. This is the first study reporting significant numbers of prenatal diagnoses using the quantitative fluorescent polymerase chain reaction. We believe that further studies on greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for diagnosis of trisomy from single fetal cells isolated from maternal blood.
胎儿三体综合征的产前诊断通常通过对羊水进行细胞遗传学分析来进行。这需要漫长的实验室程序和高昂的成本，且不适用于对孕妇进行大规模筛查。另一种方法，既快速又廉价，甚至适用于从单个胎儿细胞诊断三体综合征，即使用多态性小串联重复序列（STR）的荧光聚合酶链反应。在本文中，我们展示了一项更大规模研究的初步结果，该研究比较了使用细胞遗传学对21三体和18三体进行平行产前诊断与使用STR标记的定量荧光聚合酶链反应。两种技术在所有病例中获得的结果均一致。这是第一项报告使用定量荧光聚合酶链反应进行大量产前诊断的研究。我们相信，对更多样本的进一步研究将确定该技术的绝对可靠性。这些结果也为从母血中分离出的单个胎儿细胞诊断三体综合征提供了一个模型。
