Prenatal genotyping for the RhD blood group antigen: Considerations in developing an accurate test

Robert Allen, Sean Ward, Rachel Harris

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Experience performing prenatal genotyping for RHD has shown that consideration must be given to developing a molecular test capable of detecting recombination/gene conversion events involving the RHD and RHCE genes that can lead to erroneous results. Out of 50 prenatal RHD tests performed over the past 5 years four samples were encountered that gave false-positive results. In only one of the tests incorrect results were issued to the physician. In the other three instances the erroneous nature of the test results was revealed through the analysis of multiple regions of the RHD gene and more importantly because the mother and sometimes the father were tested in parallel with the fetus. In an extension of the observations obtained from the prenatal testing program a large panel of RhD-negative blood donors were subjected to molecular analysis of the RHD gene. Of 1, 183 donors screened 187 were found to phenotype as RhD negative. Of the 187 donors confirmed RhD negative serologically 22 (11.8%) were found to retain remnants of the RHD gene that depending upon the characteristics of the molecular assay performed could lead to a false-positive result in a genotyping assay. On the basis of the experience presented here it is recommended that any molecular RHD assay include an analysis of multiple areas of the RHD gene so as to allow for the detection of recombination/gene conversion events between the RHD and RHCE genes. Moreover it is strongly recommended that the mother (at a minimum) and father be subjected to molecular analysis simultaneously with the fetus to confirm that the known phenotypes of the parent(s) are consistent with their respective genotypes.

Original languageEnglish
Pages (from-to)377-382
Number of pages6
JournalGenetic Testing
Volume4
Issue number4
DOIs
StatePublished - 1 Jan 2000

Fingerprint

Blood Group Antigens
Genes
Gene Conversion
Fathers
Genetic Recombination
Fetus
Mothers
Tissue Donors
Phenotype
Blood Donors
Genotype
Physicians

Cite this

@article{cd39d1d90e4b44c9a09f19a2292db09a,
title = "Prenatal genotyping for the RhD blood group antigen: Considerations in developing an accurate test",
abstract = "Experience performing prenatal genotyping for RHD has shown that consideration must be given to developing a molecular test capable of detecting recombination/gene conversion events involving the RHD and RHCE genes that can lead to erroneous results. Out of 50 prenatal RHD tests performed over the past 5 years four samples were encountered that gave false-positive results. In only one of the tests incorrect results were issued to the physician. In the other three instances the erroneous nature of the test results was revealed through the analysis of multiple regions of the RHD gene and more importantly because the mother and sometimes the father were tested in parallel with the fetus. In an extension of the observations obtained from the prenatal testing program a large panel of RhD-negative blood donors were subjected to molecular analysis of the RHD gene. Of 1, 183 donors screened 187 were found to phenotype as RhD negative. Of the 187 donors confirmed RhD negative serologically 22 (11.8{\%}) were found to retain remnants of the RHD gene that depending upon the characteristics of the molecular assay performed could lead to a false-positive result in a genotyping assay. On the basis of the experience presented here it is recommended that any molecular RHD assay include an analysis of multiple areas of the RHD gene so as to allow for the detection of recombination/gene conversion events between the RHD and RHCE genes. Moreover it is strongly recommended that the mother (at a minimum) and father be subjected to molecular analysis simultaneously with the fetus to confirm that the known phenotypes of the parent(s) are consistent with their respective genotypes.",
author = "Robert Allen and Sean Ward and Rachel Harris",
year = "2000",
month = "1",
day = "1",
doi = "10.1089/109065700750065126",
language = "English",
volume = "4",
pages = "377--382",
journal = "Genetic Testing",
issn = "1090-6576",
publisher = "Mary Ann Liebert Inc.",
number = "4",

}

Prenatal genotyping for the RhD blood group antigen : Considerations in developing an accurate test. / Allen, Robert; Ward, Sean; Harris, Rachel.

In: Genetic Testing, Vol. 4, No. 4, 01.01.2000, p. 377-382.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Prenatal genotyping for the RhD blood group antigen

T2 - Considerations in developing an accurate test

AU - Allen, Robert

AU - Ward, Sean

AU - Harris, Rachel

PY - 2000/1/1

Y1 - 2000/1/1

N2 - Experience performing prenatal genotyping for RHD has shown that consideration must be given to developing a molecular test capable of detecting recombination/gene conversion events involving the RHD and RHCE genes that can lead to erroneous results. Out of 50 prenatal RHD tests performed over the past 5 years four samples were encountered that gave false-positive results. In only one of the tests incorrect results were issued to the physician. In the other three instances the erroneous nature of the test results was revealed through the analysis of multiple regions of the RHD gene and more importantly because the mother and sometimes the father were tested in parallel with the fetus. In an extension of the observations obtained from the prenatal testing program a large panel of RhD-negative blood donors were subjected to molecular analysis of the RHD gene. Of 1, 183 donors screened 187 were found to phenotype as RhD negative. Of the 187 donors confirmed RhD negative serologically 22 (11.8%) were found to retain remnants of the RHD gene that depending upon the characteristics of the molecular assay performed could lead to a false-positive result in a genotyping assay. On the basis of the experience presented here it is recommended that any molecular RHD assay include an analysis of multiple areas of the RHD gene so as to allow for the detection of recombination/gene conversion events between the RHD and RHCE genes. Moreover it is strongly recommended that the mother (at a minimum) and father be subjected to molecular analysis simultaneously with the fetus to confirm that the known phenotypes of the parent(s) are consistent with their respective genotypes.

AB - Experience performing prenatal genotyping for RHD has shown that consideration must be given to developing a molecular test capable of detecting recombination/gene conversion events involving the RHD and RHCE genes that can lead to erroneous results. Out of 50 prenatal RHD tests performed over the past 5 years four samples were encountered that gave false-positive results. In only one of the tests incorrect results were issued to the physician. In the other three instances the erroneous nature of the test results was revealed through the analysis of multiple regions of the RHD gene and more importantly because the mother and sometimes the father were tested in parallel with the fetus. In an extension of the observations obtained from the prenatal testing program a large panel of RhD-negative blood donors were subjected to molecular analysis of the RHD gene. Of 1, 183 donors screened 187 were found to phenotype as RhD negative. Of the 187 donors confirmed RhD negative serologically 22 (11.8%) were found to retain remnants of the RHD gene that depending upon the characteristics of the molecular assay performed could lead to a false-positive result in a genotyping assay. On the basis of the experience presented here it is recommended that any molecular RHD assay include an analysis of multiple areas of the RHD gene so as to allow for the detection of recombination/gene conversion events between the RHD and RHCE genes. Moreover it is strongly recommended that the mother (at a minimum) and father be subjected to molecular analysis simultaneously with the fetus to confirm that the known phenotypes of the parent(s) are consistent with their respective genotypes.

UR - http://www.scopus.com/inward/record.url?scp=0034496154&partnerID=8YFLogxK

U2 - 10.1089/109065700750065126

DO - 10.1089/109065700750065126

M3 - Article

C2 - 11216662

AN - SCOPUS:0034496154

VL - 4

SP - 377

EP - 382

JO - Genetic Testing

JF - Genetic Testing

SN - 1090-6576

IS - 4

ER -