Multiplexed Maternal Plasma Dna Sequencing

From Anvita Health Wiki

Contents 1 Indications 2 Principle 3 Clinical-significance 4 More General Terms 5 Additional Terms 6 References

Indications

• identification of fetal genetic disease, including Down's syndrome (may eliminate need for amniocentesis)

Principle

• cell-free DNA from the fetus has been found in the plasma of pregnant women
• the basis of these tests is the detection of fetal-specific DNA sequences in maternal plasma
• fetal-specific nucleic acids, such as DNA methylation & mRNA markers in maternal plasma, has been proposed for detection of fetal aneuploidies

Clinical-significance

• non-invasive maternal plasma sampling
• this test has facilitated determination of fetal sex & fetal RhD genotype in RhD negative women
• trisomy 21 fetuses can be detected with 100% sensitivity & 97.9% specificity, with a positive predictive value of 96.6% & a negative predictive value of 100% [1]

More General Terms

• molecular diagnostic test

Additional Terms

• amniocentesis
• chorionic villus sampling

References

1. Chiu RWK et al Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study BMJ 2011; 342:c7401 <PubMed> PMID: [1] <Internet> [2]
2. Chiu RWK, Cantor CR, Lo YMD. Non-invasive prenatal diagnosis by single molecule counting technologies. Trends Genet 2009;25:324-31 PMID: [3]

multiplexed maternal plasma DNA sequencing