Xiong Yali, Jeronis Stacey, Hoffman Barbara, Liebermann Dan A, Geifman-Holtzman Ossie
Fels Institute for Cancer Research and Molecular Biology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.
Department of Obstetrics, Gynecology and Reproductive Sciences, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.
Prenat Diagn. 2017 Apr;37(4):311-317. doi: 10.1002/pd.5006. Epub 2017 Mar 6.
This study was aimed to evaluate whether maternal dried blood spots could be a potential source for the noninvasive fetal RHD genotyping, serving as a combined one-step test for both the First Trimester Screen and the fetal RHD genotyping.
Both the maternal dried blood spots and the peripheral blood samples from 19 RhD-negative pregnant women were obtained during the First Trimester Screen. DNA was extracted and sequential real-time PCRs were performed to determine the fetal RHD genotypes. Fetal RhD serological types were obtained after delivery. This study was approved by the Institutional Review Board, and informed consents were obtained.
A total of 19/19 fetal RHD genotyping with maternal DBS were consistent with the follow-up serological RhD test results after birth. Eleven were RhD positive, and eight were RhD negative (RHD deletion or RHD-CE-D = 6, RHD pseudogene = 1, RHDVI = 1). Sensitivity = 100%, specificity = 100%, positive predictive value = 100%, negative predictive value = 100%. A total of 18/19 fetal gender were determined correctly with maternal DBS. One female fetus was falsely determined as male. Sensitivity = 100%, specificity = 91.6%, positive predictive value = 87.5%, negative predictive value = 100%.
Maternal dried blood spots, with the benefits of flexible sample transportation and processing, could be utilized for the noninvasive prenatal fetal RHD genotyping and potentially be incorporated into the routine First Trimester Screen. Larger scale study is in progress to implement fetal RHD genotyping in routine prenatal care. © 2017 John Wiley & Sons, Ltd.
本研究旨在评估孕妇干血斑是否可作为无创胎儿RHD基因分型的潜在来源，作为孕早期筛查和胎儿RHD基因分型的联合一步检测法。
在孕早期筛查期间采集了19名RhD阴性孕妇的孕妇干血斑和外周血样本。提取DNA并进行序列实时PCR以确定胎儿RHD基因型。分娩后获得胎儿RhD血清学类型。本研究经机构审查委员会批准，并获得了知情同意书。
19例通过孕妇干血斑进行的胎儿RHD基因分型结果与出生后随访的血清学RhD检测结果一致。11例为RhD阳性，8例为RhD阴性（RHD缺失或RHD-CE-D = 6例，RHD假基因 = 1例，RHDVI = 1例）。灵敏度 = 100%，特异性 = 100%，阳性预测值 = 100%，阴性预测值 = 100%。19例中有18例通过孕妇干血斑正确确定了胎儿性别。1例女胎被错误判定为男胎。灵敏度 = 100%，特异性 = 91.6%，阳性预测值 = 87.5%，阴性预测值 = 100%。
孕妇干血斑具有样本运输和处理灵活的优点，可用于无创产前胎儿RHD基因分型，并有可能纳入常规孕早期筛查。正在进行更大规模的研究，以在常规产前护理中实施胎儿RHD基因分型。© 2017约翰威立父子有限公司
