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Transfusionsmedizin 2014; 4(2): 73-78
DOI: 10.1055/s-0034-1368224
Übersicht
Georg Thieme Verlag KG Stuttgart · New York

Fetale molekulargenetische Blutgruppenbestimmung aus mütterlichem Plasma

Fetal Molecular Blood Group Determination From Maternal Plasma
T. J. Legler
Abteilung Transfusionsmedizin, Universitätsmedizin Göttingen, Göttingen
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Publication History

Publication Date:
14 May 2014 (online)

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Zusammenfassung

Die fetale molekulargenetische Blutgruppenbestimmung aus mütterlichem Plasma ermöglicht bei einer Patientin mit irregulären Antikörpern in der Schwangerschaft eine Risikoabschätzung und eine individualisierte Überwachung. Nach Analyse zellfreier fetaler DNA im mütterlichen Plasma und Nachweis von Nukleinsäurepolymorphismen, die mit dem betreffenden Blutgruppenantigen assoziiert sind, kann von einer besonderen Gefährdung des Fetus ausgegangen werden. Weist der Test dahingegen darauf hin, dass dem Feten das entsprechende erythrozytäre Antigen fehlt, können die Überwachungsintervalle deutlich verlängert werden. Eine Kontrollreaktion, mit der spezifisch fetale DNA nachgewiesen wird, führt zu einer hohen Genauigkeit des Testverfahrens. Die fetale molekulargenetische Blutgruppenbestimmung könnte zukünftig auch in Deutschland dazu dienen, die präpartale Anti-D-Prophylaxe bei nicht immunisierten Rh-negativen Frauen auf die Fälle zu beschränken, bei denen ein Rh-positives Neugeborenes erwartet wird.

Abstract

Molecular determination of the fetal blood group from maternal plasma in women with irregular red cell antibodies allows a risk assessment and a targeted monitoring regimen. Cell-free fetal DNA in maternal plasma is analyzed and if certain nucleic acid polymorphisms are detected which are associated with the respective blood group antigen, the fetus is at risk to develop a hemolytic disease. If in contrast the test indicates that the respective blood group antigen has not been inherited from the father and is absent on fetal red cells, monitoring can be performed in larger intervals or even stopped. A control reaction is available which indicates that cell-free fetal DNA has been present after nucleic acid extraction. This information is especially important when the blood group allele specific reaction gives a negative result. Thus molecular determination of the fetal blood group from maternal plasma is highly accurate. In future this technology might be applied also in Germany to restrict routine antenatal anti-D prophylaxis to only those Rh-negative women who carry a D-positive fetus.

Schlüsselwörter

Morbus haemolyticus neonatorum - Alloimmunisierung - nicht invasiv - Anti-D-Prophylaxe

Key words

hemolytic disease of the newborn - alloimmunization - non-invasive - anti-D prophylaxis
 

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