Document Detail


Evaluation of non-invasive prenatal RHD genotyping of the fetus.
MedLine Citation:
PMID:  19580531     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To evaluate a non-invasive molecular test using free circulating fetal DNA in maternal plasma to predict the fetal RHD type. DESIGN: A prospective cohort study. PARTICIPANTS AND SETTING: Venous blood samples were collected from 140 Rhesus (Rh) D-negative women booked for antenatal care in two tertiary maternity hospitals in Sydney and Brisbane between November 2006 and April 2008. Cell-free DNA, including free maternal and fetal DNA, was extracted from maternal plasma in the tertiary Australian Red Cross Blood Service laboratory, and three exon regions of the RHD gene were amplified. MAIN OUTCOME MEASURES: Comparison of the predicted fetal RHD status and the infant's RhD serotype. Secondary analysis involved using SRY and RASSF1A assays as internal controls to confirm the presence of fetal DNA in RHD-negative samples. RESULTS: Of 140 samples tested, results for RHD status were assigned for 135, and all 135 predictions were correct. A result was not assigned in five cases: three did not meet strict threshold criteria for classification, and two were due to RHD variants. Fetal SRY status was correctly predicted in 137 of 140 cases. In 16 samples typed both RHD- and SRY-negative, a positive RASSF1A result verified the presence of fetal DNA. CONCLUSIONS: Non-invasive testing of multiple exons provides a robust method of assessing fetal RHD status, and provides a safer alternative to amniocentesis for the management of RhD-negative pregnant women who are isoimmunised.
Authors:
Catherine A Hyland; Glenn J Gardener; Helen Davies; Minna Ahvenainen; Robert L Flower; Darryl Irwin; Jonathan M Morris; Christopher M Ward; Jonathan A Hyett
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Medical journal of Australia     Volume:  191     ISSN:  0025-729X     ISO Abbreviation:  Med. J. Aust.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-07-07     Completed Date:  2009-08-28     Revised Date:  2009-11-06    
Medline Journal Info:
Nlm Unique ID:  0400714     Medline TA:  Med J Aust     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  21-5     Citation Subset:  IM    
Affiliation:
Research and Business Development, Australian Red Cross Blood Service, Brisbane, QLD, Australia. chyland@arcbs.redcross.org.au
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MeSH Terms
Descriptor/Qualifier:
Adult
Cohort Studies
DNA / blood*
Exons / genetics
Female
Fetal Diseases / blood,  genetics*
Genotype
Humans
Maternal-Fetal Exchange / genetics*
Pregnancy
Prenatal Care / methods
Prenatal Diagnosis / methods*
Prospective Studies
Quality Assurance, Health Care / organization & administration
Queensland
Reverse Transcriptase Polymerase Chain Reaction
Rh-Hr Blood-Group System / blood,  genetics*
Sensitivity and Specificity
Young Adult
Chemical
Reg. No./Substance:
0/Rh-Hr Blood-Group System; 0/Rho(D) antigen; 9007-49-2/DNA
Comments/Corrections
Comment In:
Med J Aust. 2009 Oct 5;191(7):414   [PMID:  19807645 ]
Med J Aust. 2009 Jul 6;191(1):5-6   [PMID:  19580526 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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