| Non-invasive fetal RHD genotyping in the first trimester of pregnancy. | |
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MedLine Citation:
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PMID: 20482298 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Hemolytic disease of the fetus and newborn (HDN) is caused primarily by feto-maternal RhD incompatibility. Although all RhD negative pregnant women undergo routine antenatal RhD prophylaxis at 28 weeks of gestation, and following delivery if the newborn is RhD positive, HDN has not been eradicated. Here, we investigated fetal Rhesus D (RHD) genotype in maternal plasma during the first trimester of pregnancy in our area. METHODS: Plasma samples were obtained from 111 RhD negative pregnant women, between 9 and 13 weeks of gestation. DNA from maternal plasma containing cell-free fetal DNA (cffDNA) was analyzed by quantitative PCR (qPCR) to detect RHD exons 5 and 7. A beta-globin (HBB) sequence was quantified to estimate total DNA concentration. qPCR results were compared with newborn RhD determined in cord blood serum. The influence of several gestational parameters on DNA concentration was also analyzed. RESULTS: The specificity and sensitivity of the assay was 93% and 100%, respectively, with 97% diagnostic accuracy. Cell-free DNA concentrations during the first trimester of pregnancy were not affected by the gestational parameters studied (free-beta fraction of human chorionic gonadotropin and pregnancy-associated plasma protein A concentrations, fetal sex, materno-fetal ABO blood group incompatibility, maternal weight and gestational age). CONCLUSIONS: Non-invasive fetal RHD genotyping during the first trimester of pregnancy can be determined with a high specificity, thus representing a valuable tool for improving the management of RhD negative pregnant women. As a high percentage of pregnant women participate in the routine first trimester combined screening program for aneuploidies, the fetal RHD study could be of immediate implementation, since the same blood collection could be used. |
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Authors:
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Leyre Cardo; Belén Prieto García; Francisco V Alvarez |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical chemistry and laboratory medicine : CCLM / FESCC Volume: 48 ISSN: 1434-6621 ISO Abbreviation: Clin. Chem. Lab. Med. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-04 Completed Date: 2010-11-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9806306 Medline TA: Clin Chem Lab Med Country: Germany |
Other Details:
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Languages: eng Pagination: 1121-6 Citation Subset: IM |
Affiliation:
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Hospital Universitario Central de Asturias, Servicio de Bioquímica, Oviedo, Spain. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Exons Female Fetal Diseases / blood, genetics* Genotype Gestational Age Humans Maternal-Fetal Exchange Polymerase Chain Reaction Pregnancy Pregnancy Trimester, First Prenatal Diagnosis Rh-Hr Blood-Group System / blood, genetics* Sensitivity and Specificity beta-Globins / genetics |
| Chemical | |
Reg. No./Substance:
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0/Rh-Hr Blood-Group System; 0/Rho(D) antigen; 0/beta-Globins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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