Sesarini Carla, Giménez María Laura, Redal María Ana, Izbizky Gustavo, Aiello Horacio, Argibay Pablo, Otaño Lucas
Unidad de Medicina Molecular y Genómica, Instituto de Ciencias Básicas y Medicina Experimental.
Arch Argent Pediatr. 2009 Oct;107(5):405-9. doi: 10.1590/S0325-00752009000500006.
The analysis of free fetal DNA in maternal plasma allows the assessment of fetal genetic material avoiding the necessity of invasive procedures during pregnancy.
To evaluate the feasibility and the diagnostic performance of fetal sex and fetal RhD detection through the analysis of free fetal DNA in maternal plasma using standard reagents in molecular biology.
A hundred and nine blood samples of pregnant women were obtained. Amplification by real time PCR a sequence from the RhD gene in Rh negative patients and a Y-chromosome sequence, for the diagnosis of fetal Rh and sex respectively, were performed. Results were compared with neonatal outcomes.
From the 109 samples, 26 are still ongoing, 4 ended in spontaneous abortions and in 3 were lost to follow up. From the remaining 76 samples with neonatal result, the determination of fetal Rh from the RhD gene was performed in 65 Rh negative women, whereas in 66 samples the fetal sex analysis was evaluated. Overall, 15 samples had not conclusive results and were excluded from the study. The predictive values for RhD positive and negative were 85% and 90%, respectively, while the prediction for male sex was 94.3% and for female sex 95%.
The non invasive determination of fetal RhD and sex in maternal plasma using standard reagents in molecular biology was feasible in the majority of the samples, with a diagnostic performance similar to the reported in the literature.
对母血中游离胎儿DNA进行分析，可在无需孕期侵入性操作的情况下评估胎儿遗传物质。
通过使用分子生物学标准试剂分析母血中游离胎儿DNA，评估胎儿性别和胎儿RhD检测的可行性及诊断性能。
采集109例孕妇血样。对Rh阴性患者采用实时PCR扩增RhD基因序列，对Y染色体序列进行扩增，分别用于诊断胎儿Rh和性别。将结果与新生儿结局进行比较。
109份样本中，26例仍在进行中，4例以自然流产告终，3例失访。在其余76份有新生儿结果的样本中，对65例Rh阴性女性进行了RhD基因胎儿Rh检测，对66份样本进行了胎儿性别分析。总体而言，15份样本结果不明确，被排除在研究之外。RhD阳性和阴性的预测值分别为85%和90%，男性性别的预测值为94.3%，女性性别的预测值为95%。
在大多数样本中，使用分子生物学标准试剂对母血中胎儿RhD和性别进行非侵入性检测是可行的，诊断性能与文献报道相似。
