TY - JOUR
T1 - Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation
AU - Liao, Gary J.W.
AU - Gronowski, Ann M.
AU - Zhao, Zhen
PY - 2014/1/20
Y1 - 2014/1/20
N2 - The identification of cell-free fetal DNA (cffDNA) in maternal circulation has made non-invasive prenatal testing (NIPT) possible. Maternal plasma cell free DNA is a mixture of maternal and fetal DNA, of which, fetal DNA represents a minor population in maternal plasma. Therefore, methods with high sensitivity and precision are required to detect and differentiate fetal DNA from the large background of maternal DNA. In recent years, technical advances in the molecular analysis of fetal DNA (e.g., digital PCR and massively parallel sequencing (MPS)) has enabled the successful implementation of noninvasive testing into clinical practice, such as fetal sex assessment, RhD genotyping, and fetal chromosomal aneuploidy detection. With the ability to decipher the entire fetal genome from maternal plasma DNA, we foresee that an increased number of non-invasive prenatal tests will be available for detecting many single-gene disorders in the near future. This review briefly summarizes the technical aspects of the NIPT and application of NIPT in clinical practice.
AB - The identification of cell-free fetal DNA (cffDNA) in maternal circulation has made non-invasive prenatal testing (NIPT) possible. Maternal plasma cell free DNA is a mixture of maternal and fetal DNA, of which, fetal DNA represents a minor population in maternal plasma. Therefore, methods with high sensitivity and precision are required to detect and differentiate fetal DNA from the large background of maternal DNA. In recent years, technical advances in the molecular analysis of fetal DNA (e.g., digital PCR and massively parallel sequencing (MPS)) has enabled the successful implementation of noninvasive testing into clinical practice, such as fetal sex assessment, RhD genotyping, and fetal chromosomal aneuploidy detection. With the ability to decipher the entire fetal genome from maternal plasma DNA, we foresee that an increased number of non-invasive prenatal tests will be available for detecting many single-gene disorders in the near future. This review briefly summarizes the technical aspects of the NIPT and application of NIPT in clinical practice.
KW - Cell-free fetal DNA
KW - Fetal chromosomal aneuploidy
KW - Fetal sex assessment
KW - Non-invasive prenatal testing
KW - RhD genotyping
KW - Single-gene disorders
UR - http://www.scopus.com/inward/record.url?scp=84888067933&partnerID=8YFLogxK
U2 - 10.1016/j.cca.2013.10.007
DO - 10.1016/j.cca.2013.10.007
M3 - Review article
C2 - 24482806
AN - SCOPUS:84888067933
SN - 0009-8981
VL - 428
SP - 44
EP - 50
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
ER -