Pertl B, Pieber D, Lercher-Hartlieb A, Orescovic I, Haeusler M, Winter R, Kroisel P, Adinolfi M
Department of Obstetrics and Gynecology, University of Graz, Auenbruggerplatz 14, A-8036 Graz, Austria.
Mol Hum Reprod. 1999 Dec;5(12):1176-9. doi: 10.1093/molehr/5.12.1176.
We report the results of a prospective study using quantitative fluorescent polymerase chain reaction (QF-PCR) and small tandem repeat markers (STR) for the rapid prenatal detection of aneuploidies in a group of pregnant women at increased risk of having fetuses with numerical chromosome disorders. Amniotic fluid samples (n = 52) were collected from mothers undergoing prenatal invasive testing for fetal abnormalities on ultrasonographic examination or abnormal maternal serum aneuploidy screening results. All samples were tested by cytogenetic analysis, but rapid diagnoses of aneuploidies were offered and performed using QF-PCR analysis with several STRs specific for chromosomes 21, 18, 13 and X. All cases with numerical chromosome aberrations involving chromosomes 21, 18 and 13 (n = 8) were correctly diagnosed. Three gonosomal aneuplodies (one 47,XXY and two 45,X) were not detected because they were uninformative for the X markers. Another sample with a deletion (46,XX,7q-), that the present assay was not designed to detect, was not identified. One sample was heavily contaminated with maternal blood and the results of the QF-PCR assays were uninformative. The remaining samples from normal fetuses provided QF-PCR patterns disomic for chromosomes 21, 18, 13 and X. Our study demonstrates that QF-PCR is a rapid method for the detection of common numerical chromosome disorders and it may play an important role in prenatal diagnosis for women at high risk for fetal aneuploidy.
我们报告了一项前瞻性研究的结果，该研究使用定量荧光聚合酶链反应（QF-PCR）和小串联重复序列标记（STR），对一组胎儿患染色体数目异常疾病风险增加的孕妇进行快速产前非整倍体检测。从因超声检查发现胎儿异常或孕妇血清非整倍体筛查结果异常而接受产前侵入性检测的母亲中收集羊水样本（n = 52）。所有样本均进行了细胞遗传学分析，但使用针对21号、18号、13号染色体和X染色体的几种STR进行QF-PCR分析，提供并进行了非整倍体的快速诊断。所有涉及21号、18号和13号染色体的染色体数目畸变病例（n = 8）均被正确诊断。三个性染色体非整倍体（一个47,XXY和两个45,X）未被检测到，因为它们对X标记无信息价值。另一个有缺失（46,XX,7q-）的样本，本检测方法未设计用于检测此类情况，未被识别。一个样本被母体血液严重污染，QF-PCR检测结果无信息价值。其余来自正常胎儿的样本提供了21号、18号、13号染色体和X染色体的二体QF-PCR模式。我们的研究表明，QF-PCR是一种检测常见染色体数目疾病的快速方法，它可能在胎儿非整倍体高风险女性的产前诊断中发挥重要作用。
