Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service
BACKGROUND : Invasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell‐free fetal DNA is present in maternal blood. The detection of RHD sequences in maternal plasma has been used to predict fetal D status, based on the assumption that RH...
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| Published in | Transfusion (Philadelphia, Pa.) Vol. 42; no. 8; pp. 1079 - 1085 |
|---|---|
| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
Boston, MA, USA
Blackwell Science Inc
01.08.2002
Blackwell Publishing |
| Subjects | |
| Online Access | Get full text |
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| Abstract | BACKGROUND
: Invasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell‐free fetal DNA is present in maternal blood. The detection of
RHD
sequences in maternal plasma has been used to predict fetal D status, based on the assumption that
RHD is absent in D– genomes.
STUDY DESIGN AND METHODS
: Real‐time PCR assays were designed to distinguish
RHD
from
RHD
Ψ (possessed by the majority of D– black Africans). Plasma‐derived DNA from 137 D– women was subjected to real‐time PCR to detect fetal
RHD
and Y chromosome‐associated
SRY
sequences. The accuracy of
RHD
genotyping from maternal plasma was investigated by comparing results with those obtained by conventional
RHD genotyping from fetal tissue or serologic tests on the infant's RBCs. The quantity of fetal DNA in maternal plasma was investigated in 94 pregnancies.
RESULTS : Fetal D status was predicted with 100‐ percent accuracy from maternal plasma. The number of copies of fetal DNA in maternal plasma was found to increase with gestation.
CONCLUSION
: Combination of the sensitivity of real‐time PCR with an improved
RHD
typing assay to distinguish
RHD
from
RHD
Ψ enables highly accurate prediction of fetal D status from maternal plasma. This has resulted in the implementation of a clinical noninvasive fetal
RHD genotyping service. |
|---|---|
| AbstractList | Invasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell-free fetal DNA is present in maternal blood. The detection of RHD sequences in maternal plasma has been used to predict fetal D status, based on the assumption that RHD is absent in D- genomes.
Real-time PCR assays were designed to distinguish RHD from RHDpsi (possessed by the majority of D- black Africans). Plasma-derived DNA from 137 D- women was subjected to real-time PCR to detect fetal RHD and Y chromosome-associated SRY sequences. The accuracy of RHD genotyping from maternal plasma was investigated by comparing results with those obtained by conventional RHD genotyping from fetal tissue or serologic tests on the infant's RBCs. The quantity of fetal DNA in maternal plasma was investigated in 94 pregnancies.
Fetal D status was predicted with 100-percent accuracy from maternal plasma. The number of copies of fetal DNA in maternal plasma was found to increase with gestation.
Combination of the sensitivity of real-time PCR with an improved RHD typing assay to distinguish RHD from RHDpsi enables highly accurate prediction of fetal D status from maternal plasma. This has resulted in the implementation of a clinical noninvasive fetal RHD genotyping service. BACKGROUND : Invasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell‐free fetal DNA is present in maternal blood. The detection of RHD sequences in maternal plasma has been used to predict fetal D status, based on the assumption that RHD is absent in D– genomes. STUDY DESIGN AND METHODS : Real‐time PCR assays were designed to distinguish RHD from RHD Ψ (possessed by the majority of D– black Africans). Plasma‐derived DNA from 137 D– women was subjected to real‐time PCR to detect fetal RHD and Y chromosome‐associated SRY sequences. The accuracy of RHD genotyping from maternal plasma was investigated by comparing results with those obtained by conventional RHD genotyping from fetal tissue or serologic tests on the infant's RBCs. The quantity of fetal DNA in maternal plasma was investigated in 94 pregnancies. RESULTS : Fetal D status was predicted with 100‐ percent accuracy from maternal plasma. The number of copies of fetal DNA in maternal plasma was found to increase with gestation. CONCLUSION : Combination of the sensitivity of real‐time PCR with an improved RHD typing assay to distinguish RHD from RHD Ψ enables highly accurate prediction of fetal D status from maternal plasma. This has resulted in the implementation of a clinical noninvasive fetal RHD genotyping service. BACKGROUND : Invasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell‐free fetal DNA is present in maternal blood. The detection of RHD sequences in maternal plasma has been used to predict fetal D status, based on the assumption that RHD is absent in D– genomes. STUDY DESIGN AND METHODS : Real‐time PCR assays were designed to distinguish RHD from RHD Ψ (possessed by the majority of D– black Africans). Plasma‐derived DNA from 137 D– women was subjected to real‐time PCR to detect fetal RHD and Y chromosome‐associated SRY sequences. The accuracy of RHD genotyping from maternal plasma was investigated by comparing results with those obtained by conventional RHD genotyping from fetal tissue or serologic tests on the infant's RBCs. The quantity of fetal DNA in maternal plasma was investigated in 94 pregnancies. RESULTS : Fetal D status was predicted with 100‐ percent accuracy from maternal plasma. The number of copies of fetal DNA in maternal plasma was found to increase with gestation. CONCLUSION : Combination of the sensitivity of real‐time PCR with an improved RHD typing assay to distinguish RHD from RHD Ψ enables highly accurate prediction of fetal D status from maternal plasma. This has resulted in the implementation of a clinical noninvasive fetal RHD genotyping service. BACKGROUNDInvasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell-free fetal DNA is present in maternal blood. The detection of RHD sequences in maternal plasma has been used to predict fetal D status, based on the assumption that RHD is absent in D- genomes.STUDY DESIGN AND METHODSReal-time PCR assays were designed to distinguish RHD from RHDpsi (possessed by the majority of D- black Africans). Plasma-derived DNA from 137 D- women was subjected to real-time PCR to detect fetal RHD and Y chromosome-associated SRY sequences. The accuracy of RHD genotyping from maternal plasma was investigated by comparing results with those obtained by conventional RHD genotyping from fetal tissue or serologic tests on the infant's RBCs. The quantity of fetal DNA in maternal plasma was investigated in 94 pregnancies.RESULTSFetal D status was predicted with 100-percent accuracy from maternal plasma. The number of copies of fetal DNA in maternal plasma was found to increase with gestation.CONCLUSIONCombination of the sensitivity of real-time PCR with an improved RHD typing assay to distinguish RHD from RHDpsi enables highly accurate prediction of fetal D status from maternal plasma. This has resulted in the implementation of a clinical noninvasive fetal RHD genotyping service. |
| Author | Finning, K.M. Martin, P.G. Soothill, P.W. Avent, N.D. |
| Author_xml | – sequence: 1 givenname: K.M. surname: Finning fullname: Finning, K.M. organization: From the International Blood Group Reference Laboratory, National Blood Service – sequence: 2 givenname: P.G. surname: Martin fullname: Martin, P.G. organization: From the International Blood Group Reference Laboratory, National Blood Service – sequence: 3 givenname: P.W. surname: Soothill fullname: Soothill, P.W. organization: From the International Blood Group Reference Laboratory, National Blood Service – sequence: 4 givenname: N.D. surname: Avent fullname: Avent, N.D. organization: From the International Blood Group Reference Laboratory, National Blood Service |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13867687$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/12385421$$D View this record in MEDLINE/PubMed |
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| References_xml | – volume: 23 start-page: 394 year: 2001 end-page: 402 article-title: Molecular biology of the Rh blood group system. publication-title: J Pediat Hematol Oncol – volume: 78 start-page: 0026 issue: Suppl year: 2000 article-title: Fetal RHD typing using DNA from maternal plasma: a prediagnosis study on 182 cases (abstract). publication-title: Vox Sang – volume: 16 start-page: 527 year: 1983 end-page: 34 article-title: Rh isoimmunization related to amniocentesis. publication-title: Am J Med Genet – volume: 89 start-page: 2347 year: 1997 end-page: 58 article-title: Frequency of fetal cells in sorted subpopulations of nucleated erythroid and CD34+ hematopoietic progenitor cells from maternal peripheral blood. publication-title: Blood – volume: 95 start-page: 12 year: 2000 end-page: 18 article-title: The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the RhD‐negative blood group phenotype. publication-title: 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Clin Chem doi: 10.1093/clinchem/47.9.1607 contributor: fullname: Chiu RW – volume: 95 start-page: 375 year: 2000 ident: e_1_2_6_19_2 article-title: The Rh blood group system: a review. publication-title: Blood doi: 10.1182/blood.V95.2.375 contributor: fullname: Avent ND – ident: e_1_2_6_20_2 doi: 10.1097/00043426-200108000-00018 |
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| Snippet | BACKGROUND
: Invasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell‐free fetal DNA is present... Invasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell-free fetal DNA is present in maternal... BACKGROUNDInvasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell-free fetal DNA is present in... |
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| SubjectTerms | Biological and medical sciences DNA - blood Female Fetal Blood Fetus - metabolism Forecasting Gene Dosage Genotype Humans Immunological methods for diagnosis and exploration Immunopathology Male Medical sciences Other methods Pregnancy - blood Pregnancy, Multiple Rho(D) Immune Globulin - blood Rho(D) Immune Globulin - genetics Sensitivity and Specificity Sex Characteristics Twins |
| Title | Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service |
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