Schimanski Bernd, Kräuchi Rahel, Stettler Jolanda, Lejon Crottet Sofia, Niederhauser Christoph, Clausen Frederik Banch, Fontana Stefano, Hodel Markus, Amylidi-Mohr Sofia, Raio Luigi, Abbal Claire, Henny Christine
Interregional Blood Transfusion SRC Berne Ltd., 3008 Berne, Switzerland.
Institute for Infectious Diseases, University of Berne,3010 Berne, Switzerland.
Biomedicines. 2023 Sep 27;11(10):2646. doi: 10.3390/biomedicines11102646.
RH1 incompatibility between mother and fetus can cause hemolytic disease of the fetus and newborn. In Switzerland, fetal genotyping from maternal blood has been recommended from gestational age 18 onwards since the year 2020. This facilitates tailored administration of RH immunoglobulin (RHIG) only to RH1 negative women carrying a RH1 positive fetus. Data from 30 months of noninvasive fetal screening is presented. Cell-free DNA was extracted from 7192 plasma samples using a commercial kit, followed by an in-house qPCR to detect exons 5 and 7, in addition to an amplification control. Valid results were obtained from 7072 samples, with 4515 (64%) fetuses typed positive and 2556 (36%) fetuses being negative. A total of 120 samples led to inconclusive results due to the presence of maternal or fetal variants (46%), followed by women being serologically RH1 positive (37%), and technical issues (17%). One sample was typed false positive, possibly due to contamination. No false negative results were observed. We show that unnecessary administration of RHIG can be avoided for more than one third of RH1 negative pregnant women in Switzerland. This reduces the risks of exposure to a blood-derived product and conserves this limited resource to women in actual need.
母亲与胎儿之间的RH1血型不相容可导致胎儿及新生儿溶血病。在瑞士，自2020年起建议从孕18周起对母血进行胎儿基因分型。这有助于仅对怀有RH1阳性胎儿的RH1阴性女性进行针对性的RH免疫球蛋白（RHIG）给药。本文展示了30个月的无创胎儿筛查数据。使用商用试剂盒从7192份血浆样本中提取游离DNA，随后进行内部定量聚合酶链反应（qPCR）以检测外显子5和7，同时设有扩增对照。7072份样本获得了有效结果，其中4515例（64%）胎儿分型为阳性，2556例（36%）胎儿为阴性。共有120份样本因存在母体或胎儿变异（46%）、女性血清学RH1阳性（37%）以及技术问题（17%）而导致结果不确定。1份样本分型为假阳性，可能是由于污染。未观察到假阴性结果。我们表明，瑞士超过三分之一的RH1阴性孕妇可避免不必要的RHIG给药。这降低了接触血液制品的风险，并将这种有限的资源保留给实际需要的女性。
