Y chromosome detection by Real Time PCR and pyrophosphorolysis‐activated polymerisation using free fetal DNA isolated from maternal plasma

Objectives To validate the use of Real Time PCR, a widely used technique that can detect very low levels of Y chromosomal sequence, and to assess the use of a highly sensitive PCR technique, pyrophosphorolysis‐activated polymerisation (PAP), for fetal sex determination using free fetal DNA (ffDNA).

[1]  D. Maddocks,et al.  Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast , 2007, Prenatal diagnosis.

[2]  S. Sommer,et al.  Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis‐activated polymerization allele‐specific amplification , 2007, Human mutation.

[3]  Chunming Ding,et al.  Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. , 2006, Clinical chemistry.

[4]  R. Bertorelli,et al.  Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe. , 2006, Molecular human reproduction.

[5]  C. Rodeck,et al.  Reduction in diagnostic and therapeutic interventions by non‐invasive determination of fetal sex in early pregnancy , 2005, Prenatal diagnosis.

[6]  Chunming Ding,et al.  Detection of the placental epigenetic signature of the maspin gene in maternal plasma. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[7]  S. Sommer,et al.  PAP: Detection of ultra rare mutations depends on P* oligonucleotides: “Sleeping Beauties” awakened by the kiss of pyrophosphorolysis , 2004, Human mutation.

[8]  R. B. van der Luijt,et al.  Earliest gestational age for fetal sexing in cell‐free maternal plasma , 2003, Prenatal diagnosis.

[9]  N. Avent,et al.  Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service , 2002, Transfusion.

[10]  M. Bernard,et al.  Quantitative assessment of hematopoietic chimerism after bone marrow transplantation by real-time quantitative polymerase chain reaction. , 2002, Blood.

[11]  S. Sommer,et al.  Pyrophosphorolysis-activatable oligonucleotides may facilitate detection of rare alleles, mutation scanning and analysis of chromatin structures. , 2002, Nucleic acids research.

[12]  A. Benachi,et al.  First‐trimester fetal sex determination in maternal serum using real‐time PCR , 2001, Gynecologie, obstetrique & fertilite.

[13]  S. Sommer,et al.  Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification. , 2000, BioTechniques.

[14]  A. Borne,et al.  Detection of fetal RHD-specific sequences in maternal plasma , 1998, The Lancet.

[15]  T K Lau,et al.  Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. , 1998, American journal of human genetics.

[16]  D. Bianchi.  Fetal DNA in maternal plasma: the plot thickens and the placental barrier thins. , 1998, American journal of human genetics.

[17]  I. Sargent,et al.  Presence of fetal DNA in maternal plasma and serum , 1997, The Lancet.

[18]  K. Nicolaides,et al.  Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13 weeks' gestation , 1994, The Lancet.

[19]  R. Chiu,et al.  Prenatal diagnosis: progress through plasma nucleic acids. , 2007, Nature reviews. Genetics.

[20]  F. Bischoff,et al.  Cell-free fetal DNA in maternal blood: kinetics, source and structure. , 2005, Human reproduction update.

[21]  A. Hui,et al.  Size distributions of maternal and fetal DNA in maternal plasma. , 2004, Clinical chemistry.

[22]  P. Underhill,et al.  Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny. , 2002, American journal of human genetics.

[23]  L. Poon,et al.  Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. , 2002, Clinical chemistry.

[24]  D. Bianchi,et al.  Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats , 2000, Human Genetics.

[25]  Y. Lo,et al.  Rapid clearance of fetal DNA from maternal plasma. , 1999, American journal of human genetics.