Al-Yatama M K, Mustafa A S, Ali S, Abraham S, Khan Z, Khaja N
Department of Obstetrics and Gynecology, Faculty of Medicine, Kuwait University, Kuwait.
Prenat Diagn. 2001 May;21(5):399-402. doi: 10.1002/pd.69.
The present study was undertaken to evaluate a nested polymerase chain reaction (PCR) for detection of Y chromosome-specific fetal DNA in maternal plasma and urine of pregnant women during different gestational stages. DNA isolated from plasma and urine samples of 80 pregnant women (between 7 and 40 weeks' gestation) underwent amplification for Y chromosome-specific 198 bp DNA by nested PCR. The postpartum analysis of fetal gender showed that 55 women carried male and 25 female fetuses. Among the 55 women bearing male fetuses, Y chromosome-specific signals were detected in 53 (96%) plasma and 21 (38%) urine samples. Moreover, out of 25 women bearing female fetuses, 3 (12%) and 1 (4%) women had Y chromosome-specific signal in plasma and urine, respectively. Analysis of results with respect to gestational age revealed that there was no significant difference in the detection of Y chromosome-specific DNA between different trimesters in maternal plasma of women bearing male fetuses. These results showed that fetus-specific DNA was detected with high sensitivity (96%) and specificity (88%) in the maternal plasma by nested PCR, and therefore the method could be useful as a non-invasive procedure for fetal sex determination and prenatal diagnosis.
本研究旨在评估一种巢式聚合酶链反应（PCR），用于检测不同孕周孕妇母血和尿液中Y染色体特异性胎儿DNA。从80名孕妇（妊娠7至40周）的血样和尿样中提取的DNA，通过巢式PCR对Y染色体特异性198 bp DNA进行扩增。产后胎儿性别分析显示，55名孕妇怀有男胎，25名怀有女胎。在55名怀有男胎的孕妇中，53份（96%）血样和21份（38%）尿样检测到Y染色体特异性信号。此外，在25名怀有女胎的孕妇中，分别有3名（12%）和1名（4%）孕妇的血样和尿样检测到Y染色体特异性信号。对孕周结果的分析显示，怀有男胎孕妇的母血中，不同孕期Y染色体特异性DNA的检测无显著差异。这些结果表明，通过巢式PCR在母血中检测胎儿特异性DNA具有高灵敏度（96%）和特异性（88%），因此该方法可作为一种非侵入性的胎儿性别鉴定和产前诊断方法。
