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Issue 1075 coverCirculating Nucleic Acids in Plasma and Serum IV Volume 1075 published September 2006
Ann. N.Y. Acad. Sci. 1075: 88–95 (2006). doi: 10.1196/annals.1368.011
Copyright © 2006 by the New York Academy of Sciences
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Articles by DANIELS, G.
Articles by SUMMERS, J.

Fetal Blood Group Genotyping

Present and Future

GEOFF DANIELSa, KIRSTIN FINNINGa, PETE MARTINa AND JO SUMMERSa

a International Blood Group Reference Laboratory, National Blood Service, Bristol, United Kingdom

Key Words: blood groups • Rh • RhD • Kell • hemolytic disease of the fetus and newborn • free fetal DNA in maternal plasma

Author for correspondence: Dr. Geoff Daniels, International Blood Group of Reference Laboratory, National Blood Service, Southmead Road, Bristol, BS10 5ND, United Kingdom. Voice: +44-(0)117-991-2116; fax: +44-(0)117-959-1660.  e-mail: geoff.daniels{at}nbs.nhs.uk

Prediction of fetal blood group from DNA is usually performed when the mother has antibodies to RhD, to assess whether the fetus is at risk from hemolytic disease of the fetus and newborn (HDFN). Over the last five years RhD testing on fetal DNA in maternal plasma has been introduced. At the International Blood Group Reference Laboratory (IBGRL) we employ real-time quantitative polymerase chain reaction (RQ-PCR) to detect RHD exons 4, 5, and 10, which also reveals RHD{psi}. SRY and, in RhD-negative (RhD–) females, eight biallelic polymorphisms are incorporated in an attempt to provide an internal positive control. Since 2000 we have tested 533 pregnancies for RhD. In 327 pregnancies where the RhD of the infant is known, we had one false-positive and one false-negative result. In 2004 we introduced fetal typing from DNA in maternal plasma for K, Rhc, and RhE, which represent single nucleotide polymorphisms (SNPs) on the KEL and RHCE genes.

We have begun trials on an automated method for fetal RhD typing from DNA in maternal plasma. This is designed to test fetal RhD in all pregnant RhD– women, to identify the 40% with an RhD– fetus so that antenatal RhD immunoglobulin (Ig) prophylaxis can be avoided. Similar trials have already been reported by Sanquin Research Laboratories in Amsterdam.




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K. Finning, P. Martin, J. Summers, E. Massey, G. Poole, and G. Daniels
Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study
BMJ, April 12, 2008; 336(7648): 816 - 818.
[Abstract] [Full Text] [PDF]



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