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利用游离胎儿DNA进行胎儿RhD血型的无创产前诊断。

Non-invasive prenatal diagnosis of fetal RhD by using free fetal DNA.

作者信息

Gönenç G, Işçi H, Yiğiter A B, Hançer V, Büyükdoğan M, Güdücü N, Dünder I

出版信息

Clin Exp Obstet Gynecol. 2015;42(3):344-6.

Abstract

OBJECTIVE

Anti-D immunoglobulin is applied to all pregnant women having RhD incompatibility to prevent hemolytic disease of the newborn. The aim of this study is to determine fetal RhD status in the Rh incompatible pregnancies with an non-invasive technique; free fetal DNA isolation from maternal circulation. In the case of Rh incompatibility especially with a history of previous fetal anemia, it can be beneficial to know Rh status antenatally in terms of monitoring fetuses with Rh positive [RhD(+)] status consciously.

MATERIALS AND METHODS

Total free DNA was isolated in 50 Rh negative [RhD(-)] pregnant women, who had RhD alloimmunisation with their husbands. The gene in isolated DNA was investigated with TagMan prob and real time PCR by using primers belonging to exon 7 of the RhD gene.

RESULTS

The authors analyzed 50 RhD(-) women by using quantitative real time PCR technique. Five of them were RhD(-) and the rest of them were found to be RhD(+). After birth one of the infants who were analyzed as RhD(+) were found to be RhD(-).

CONCLUSION

The detection of fetal RhD status by using a non-invasive method from maternal circulation was found to be possible. Assessing fetal RhD status non-invasively by using free fetal DNA in maternal blood will be cost-efficient, avoiding unnecessary indirect Coombs test and unnecessary Rhogam applications that is used in RH incompatible pregnancies. This study will throw a fresh light on prenatal diagnosis.

摘要

目的

对所有RhD血型不合的孕妇应用抗-D免疫球蛋白,以预防新生儿溶血病。本研究的目的是采用一种非侵入性技术,即从母体循环中分离游离胎儿DNA,来确定Rh血型不合妊娠中的胎儿RhD状态。在Rh血型不合的情况下,尤其是有既往胎儿贫血病史时,产前了解Rh状态对于有意识地监测Rh阳性[RhD(+)]状态的胎儿可能有益。

材料与方法

从50名与其丈夫存在RhD血型同种免疫的Rh阴性[RhD(-)]孕妇中分离出总游离DNA。使用属于RhD基因外显子7的引物,通过TaqMan探针和实时荧光定量PCR对分离出的DNA中的基因进行研究。

结果

作者采用实时荧光定量PCR技术对50名RhD(-)女性进行了分析。其中5名是RhD(-),其余被发现是RhD(+)。出生后,经分析为RhD(+)的婴儿中有1名被发现是RhD(-)。

结论

发现通过从母体循环中采用非侵入性方法检测胎儿RhD状态是可行的。利用母体血液中的游离胎儿DNA非侵入性地评估胎儿RhD状态将具有成本效益,避免了不必要的间接抗人球蛋白试验以及在Rh血型不合妊娠中使用的不必要的Rh免疫球蛋白应用。本研究将为产前诊断带来新的启示。

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