Recent developments in fetal nucleic acids in maternal plasma: implications to noninvasive prenatal fetal blood group genotyping

The discovery of circulating cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Fetal DNA in maternal plasma has been used for the noninvasive prenatal determination of the RhD status of fetuses carried by RhD-negative pregnant women. In such a...

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Veröffentlicht in:Transfusion clinique et biologique (Paris) 2006-03, Vol.13 (1), p.50-52
1. Verfasser: Lo, Y.M.D.
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description The discovery of circulating cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Fetal DNA in maternal plasma has been used for the noninvasive prenatal determination of the RhD status of fetuses carried by RhD-negative pregnant women. In such analysis, the possible need of an internal control for the presence of detectable amounts of fetal DNA in a particular maternal plasma sample has been actively discussed. Recently, the development of a robust method for discriminating single nucleotide differences in plasma DNA using single allele base extension reaction (SABER) followed by matrix-assisted laser-desorption and ionization time-of-flight mass spectrometry (MALDI-TOF MS) has opened up the possibilities of using a panel of single nucleotide polymorphisms as such a positive control. A second approach is the recent successful development of fetal epigenetic markers which can be developed into universal fetal DNA markers. These developments hold promise to allow the eventual widespread utilization of maternal plasma DNA analysis for the noninvasive prenatal diagnosis of blood group mismatches between the mother and fetus.
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Fetal DNA in maternal plasma has been used for the noninvasive prenatal determination of the RhD status of fetuses carried by RhD-negative pregnant women. In such analysis, the possible need of an internal control for the presence of detectable amounts of fetal DNA in a particular maternal plasma sample has been actively discussed. Recently, the development of a robust method for discriminating single nucleotide differences in plasma DNA using single allele base extension reaction (SABER) followed by matrix-assisted laser-desorption and ionization time-of-flight mass spectrometry (MALDI-TOF MS) has opened up the possibilities of using a panel of single nucleotide polymorphisms as such a positive control. A second approach is the recent successful development of fetal epigenetic markers which can be developed into universal fetal DNA markers. These developments hold promise to allow the eventual widespread utilization of maternal plasma DNA analysis for the noninvasive prenatal diagnosis of blood group mismatches between the mother and fetus.</description><subject>acides nucléiques circulants</subject><subject>ADN plasmatique</subject><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</subject><subject>Biological and medical sciences</subject><subject>Blood Group Antigens - genetics</subject><subject>Blood Group Incompatibility - diagnosis</subject><subject>Blood Group Incompatibility - embryology</subject><subject>Blood Grouping and Crossmatching - methods</subject><subject>Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis</subject><subject>Circulating nucleic acids</subject><subject>Diagnostic prénatal non invasif</subject><subject>DNA - blood</subject><subject>DNA Methylation</subject><subject>Emergency and intensive respiratory care</subject><subject>Epigenesis, Genetic</subject><subject>Erythroblastosis, Fetal - prevention &amp; control</subject><subject>Female</subject><subject>Fetal Blood - immunology</subject><subject>Fetal DNA in maternal plasma</subject><subject>Fetomaternal Transfusion</subject><subject>Genotype</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Intensive care medicine</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Noninvasive prenatal diagnosis</subject><subject>Plasma DNA</subject><subject>Plasma maternel</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Diagnosis - methods</subject><subject>Rh Isoimmunization</subject><subject>Rh-Hr Blood-Group System - genetics</subject><subject>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization</subject><subject>Transfusions. Complications. Transfusion reactions. 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Intensive care medicine. Transfusions. Cell therapy and gene therapy</topic><topic>Biological and medical sciences</topic><topic>Blood Group Antigens - genetics</topic><topic>Blood Group Incompatibility - diagnosis</topic><topic>Blood Group Incompatibility - embryology</topic><topic>Blood Grouping and Crossmatching - methods</topic><topic>Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis</topic><topic>Circulating nucleic acids</topic><topic>Diagnostic prénatal non invasif</topic><topic>DNA - blood</topic><topic>DNA Methylation</topic><topic>Emergency and intensive respiratory care</topic><topic>Epigenesis, Genetic</topic><topic>Erythroblastosis, Fetal - prevention &amp; control</topic><topic>Female</topic><topic>Fetal Blood - immunology</topic><topic>Fetal DNA in maternal plasma</topic><topic>Fetomaternal Transfusion</topic><topic>Genotype</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Intensive care medicine</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Noninvasive prenatal diagnosis</topic><topic>Plasma DNA</topic><topic>Plasma maternel</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis - methods</topic><topic>Rh Isoimmunization</topic><topic>Rh-Hr Blood-Group System - genetics</topic><topic>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization</topic><topic>Transfusions. Complications. Transfusion reactions. 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Fetal DNA in maternal plasma has been used for the noninvasive prenatal determination of the RhD status of fetuses carried by RhD-negative pregnant women. In such analysis, the possible need of an internal control for the presence of detectable amounts of fetal DNA in a particular maternal plasma sample has been actively discussed. Recently, the development of a robust method for discriminating single nucleotide differences in plasma DNA using single allele base extension reaction (SABER) followed by matrix-assisted laser-desorption and ionization time-of-flight mass spectrometry (MALDI-TOF MS) has opened up the possibilities of using a panel of single nucleotide polymorphisms as such a positive control. A second approach is the recent successful development of fetal epigenetic markers which can be developed into universal fetal DNA markers. 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subjects acides nucléiques circulants
ADN plasmatique
Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy
Biological and medical sciences
Blood Group Antigens - genetics
Blood Group Incompatibility - diagnosis
Blood Group Incompatibility - embryology
Blood Grouping and Crossmatching - methods
Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis
Circulating nucleic acids
Diagnostic prénatal non invasif
DNA - blood
DNA Methylation
Emergency and intensive respiratory care
Epigenesis, Genetic
Erythroblastosis, Fetal - prevention & control
Female
Fetal Blood - immunology
Fetal DNA in maternal plasma
Fetomaternal Transfusion
Genotype
Gynecology. Andrology. Obstetrics
Humans
Intensive care medicine
Management. Prenatal diagnosis
Medical sciences
Noninvasive prenatal diagnosis
Plasma DNA
Plasma maternel
Polymorphism, Single Nucleotide
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis - methods
Rh Isoimmunization
Rh-Hr Blood-Group System - genetics
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Transfusions. Complications. Transfusion reactions. Cell and gene therapy
title Recent developments in fetal nucleic acids in maternal plasma: implications to noninvasive prenatal fetal blood group genotyping
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