Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art

@article{Lo2009NoninvasivePD,
  title={Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art},
  author={Yuk Ming Dennis Lo},
  journal={BJOG: An International Journal of Obstetrics \& Gynaecology},
  year={2009},
  volume={116}
}
  • Y. Lo
  • Published 1 January 2009
  • Medicine
  • BJOG: An International Journal of Obstetrics & Gynaecology
Fetal nucleic acids in maternal plasma have opened up new possibilities for noninvasive prenatal diagnosis of chromosomal aneuploidies. One approach is based on the measurement of the allelic ratio of single nucleotide polymorphisms in the coding region of placental mRNA. Another approach is through the analysis of DNA fragments with different patterns of DNA methylation between fetal and maternal DNA. One other alternative is to enrich the fractional concentration of fetal DNA in maternal… 
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References

SHOWING 1-10 OF 57 REFERENCES
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
TLDR
This work achieved noninvasive prenatal diagnosis of fetal trisomy 21 by determining the ratio between alleles of a single-nucleotide polymorphism (SNP) in PLAC4 mRNA, which is transcribed from chromosome 21 and expressed by the placenta, in maternal plasma.
Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations.
TLDR
Epigenetic allelic ratio analysis of maternal plasma DNA represents a promising approach for noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.
Digital PCR for the molecular detection of fetal chromosomal aneuploidy
TLDR
This work demonstrates the use of digital PCR to determine the allelic imbalance of a SNP on PLAC4 mRNA, a placenta-expressed transcript on chromosome 21, in the maternal plasma of women bearing trisomy 21 fetuses, and developed a nonpolymorphism-based method for the noninvasive prenatal detection of trisome 21.
Systematic microarray based identification of placental mRNA in maternal plasma : towards non-invasive prenatal gene expression profiling
TLDR
This study investigated the feasibility of an approach based on an oligonucleotide microarray for the efficient development of new placental specific mRNA markers that could be detected in maternal plasma, and provided direct empirical evidence that maternal plasma RNA analysis did indeed allow the performance of non-invasive prenatal gene expression profiling.
Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling
TLDR
The detection in maternal plasma of mRNA transcripts derived from the plasma offers new avenues for the development of fetal specific nucleic acid markers that are independent of sex and polymorphism for the non-invasive prenatal assessment of all pregnancies.
Prenatal exclusion of beta thalassaemia major by examination of maternal plasma.
TLDR
An allele-specific primers and a fluorescent probe were designed for detection of the codon 41/42 (-CTTT) mutation in the beta globin gene from maternal plasma by real-time PCR and the fetal genotype was completely concordant with conventional analysis and beta thalassaemia major was excluded in two of the pregnancies non-invasively.
Presence of fetal RNA in maternal plasma.
TLDR
Using a two-step reverse transcription (RT)-PCR assay, it is demonstrated the presence of fetal-derived, male-specific mRNA in plasma of pregnant women carrying male fetuses.
Detection of the placental epigenetic signature of the maspin gene in maternal plasma.
  • S. S. Chim, Y. Tong, Y. Lo
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 2005
TLDR
Hypomethylated maspin DNA is the first universal marker for fetal DNA in maternal plasma, thus allowing the measurement of fetal DNA concentrations in pregnancy-associated disorders, irrespective of fetal gender and genetic polymorphisms.
mRNA of placental origin is readily detectable in maternal plasma
  • E. Ng, N. B. Tsui, Y. Lo
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 2003
TLDR
Direct evidence that the placenta is an important source of fetal nucleic acid release into maternal plasma is provided by demonstrating that mRNA transcripts from placentA-expressed genes are readily detectable in maternal plasma.
...
1
2
3
4
5
...