Fetal nucleic acids in maternal blood: the promises

Fetal DNA is present at an approximate mean fractional concentration of 10% in the plasma of pregnant women. The detection of paternally-inherited DNA sequences that are absent in the maternal genome, e.g., Y chromosomal sequences for fetal sexing and the gene for blood group genotyping, is well est...

Full description

Saved in:
Bibliographic Details
Published inClinical chemistry and laboratory medicine Vol. 50; no. 6; pp. 995 - 998
Main Author Dennis Lo, Yuk Ming
Format Journal Article
LanguageEnglish
Published Germany Walter de Gruyter 01.06.2012
Subjects
Aneuploidy
circulating nucleic acids
DNA - blood
DNA - genetics
Down syndrome
Fetus - metabolism
Humans
Mothers
next-generation sequencing
noninvasive prenatal diagnosis
plasma DNA
prenatal screening
Online AccessGet full text

Cover

More Information
Summary:Fetal DNA is present at an approximate mean fractional concentration of 10% in the plasma of pregnant women. The detection of paternally-inherited DNA sequences that are absent in the maternal genome, e.g., Y chromosomal sequences for fetal sexing and the gene for blood group genotyping, is well established. The recent emergence of single molecule counting technologies, such as digital polymerase chain reaction and massively parallel sequencing has allowed circulating fetal DNA to be used for the non-invasive prenatal diagnosis of fetal chromosomal aneuploidies and monogenic diseases. With large scale clinical validation and further reduction in costs, it is expected that the analysis of circulating fetal DNA will play an increasingly important role in the future practice of prenatal diagnosis.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-1
ISSN:1434-6621
1437-4331
DOI:10.1515/cclm.2011.765