Orzińska Agnieszka, Guz Katarzyna, Dębska Marzena, Uhrynowska Małgorzata, Celewicz Zbigniew, Wielgo Mirosław, Brojer Ewa
Institute of Haematology and Transfusion Medicine, Warsaw, Poland.
2nd Department of Obstetrics and Gynaecology Medical Centre of Postgraduate Education, Warsaw, Poland.
Transfus Med Hemother. 2015 Nov;42(6):361-4. doi: 10.1159/000440821. Epub 2015 Nov 3.
Blood cell antigens may cause maternal alloimmunization leading to fetal/newborn disorders. Non-invasive prenatal diagnostics (NIPD) of the blood group permits the determination of feto-maternal incompatibility.
To evaluate 14 years of blood group NIPD at the Institute of Hematology and Transfusion Medicine (IHTM) in Warsaw.
Plasma DNA from 536 RhD-negative, 24 Rhc-negative, 26 RhE-negative, 43 K-negative, and 42 HPA-1a-negative pregnant women was examined by real-time PCR to detect RHD, RHCEc, RHCEE, RHCEC, KEL01 and HPA*1A, respectively. We tested for CCR5, SRY or bi-allelic polymorphisms and quantified the total or fetal DNA.
The results of fetal antigen status prediction by NIPD in all but one case (false-positive result of KEL*01) were correct taking neonate serology as a reference. It was confirmed that all negative results of NIPD contained fetal DNA except for four cases where there was no difference between the parents' polymorphisms.
A fetal genotype compatible with the mother was determined in 25% of all pregnancies tested at the IHTM for the fetal blood group. These cases were not at risk of disease, so it was possible to avoid invasive procedures.
血细胞抗原可能导致母体同种免疫，进而引发胎儿/新生儿疾病。血型的非侵入性产前诊断（NIPD）可确定母婴血型不合情况。
评估华沙血液学与输血医学研究所（IHTM）14年来的血型NIPD情况。
采用实时聚合酶链反应（PCR）检测536例RhD阴性、24例Rhc阴性、26例RhE阴性、43例K阴性和42例HPA-1a阴性孕妇的血浆DNA，分别检测RHD、RHCEc、RHCEE、RHCEC、KEL01和HPA*1A。我们检测了CCR5、SRY或双等位基因多态性，并对总DNA或胎儿DNA进行定量分析。
以新生儿血清学为参考，除1例（KEL*01假阳性结果）外，NIPD预测胎儿抗原状态的结果均正确。已证实，除4例父母多态性无差异的情况外，NIPD的所有阴性结果均含有胎儿DNA。
在IHTM检测的所有胎儿血型的妊娠中，25%确定胎儿基因型与母亲相容。这些病例无患病风险，因此有可能避免侵入性操作。
