Noninvasive prenatal diagnosis of aneuploidy using cell‐free nucleic acids in maternal blood: promises and unanswered questions

Puszyk, William; Crea, Francesco; Old, Robert

doi:10.1002/pd.1902

Cited by 15 publications

(10 citation statements)

References 80 publications

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“…Some researchers are claiming that the most common genetic variation of DS – trisomy 21 – can be identified by isolating cell-free fetal DNA or RNA in the maternal serum and using a method called “allele ratio analysis” 13 14 15 16 17. In this method, researchers first identify genes expressed exclusively on chromosome 21 and specific to the fetus.…”

mentioning

confidence: 99%

With new prenatal testing, will babies with Down syndrome slowly disappear?

Skotko

2009

Archives of Disease in Childhood

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mentioning

confidence: 99%

With new prenatal testing, will babies with Down syndrome slowly disappear?

Skotko

2009

Archives of Disease in Childhood

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“…Cell-free fetal nucleic acids in maternal blood include the fragments of cell-free fetal DNA (cff DNA) and cell-free fetal RNA (cff RNA), which can be both detected in all three trimesters of pregnancy (Puszyk et al, 2008). Recently, several methods for noninvasive prenatal diagnosis of chromosomal aneuploidy have been reported that made use of cell-free fetal nucleic acids in maternal plasma (Lo et al, 2007a(Lo et al, , 2007bFan et al, 2008;Tsui et al, 2010).…”

mentioning

confidence: 99%

Noninvasive Prenatal Diagnosis of Down Syndrome in Samples from Southwest Chinese Gravidas Using Pregnant Plasma Placental RNA Allelic Ratio

Zhang

Liu²,

Chen³

et al. 2012

Genetic Testing and Molecular Biomarkers

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Objective: The purpose of this research was to attempt a preliminary study of noninvasive prenatal diagnosis of Down syndrome in Southwest Chinese gravidas by using the plasma placental RNA allelic ratio. Methods: The genotypes of the single-nucleotide polymorphisms (SNPs) located in the transcribed regions of the gene PLAC4 were detected in population samples collected in Southwest China by using polymerase chain reactionrestriction fragment length polymorphism, and SNPs with a higher heterozygosity were selected. Mass spectrometer analysis was adopted, and cases with the heterozygous SNPs on PLAC4 mRNA in maternal plasma were selected from 29 pregnancies with a euploid fetus and from 21 pregnancies with a trisomy-21 fetus, and then their RNA-SNP allelic ratios were further determined for noninvasive prenatal diagnosis of Down syndrome. Results: Of all 50 singleton pregnancies, 37 gravidas were found with at least one heterozygous SNP on PLAC4 mRNA in maternal plasma. Among them, 13 pregnancies with a trisomy-21 fetus were detected by the analysis of the RNA-SNP allelic ratio. Conclusion: The plasma placental RNA allelic ratio can be used for noninvasive prenatal diagnosis of Down syndrome, if SNPs on PLAC4 mRNA in maternal plasma are heterozygous.

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“…Using a sex-mismatched bone marrow transplantation model, researchers have showed that most of the plasma cfDNA molecules of the recipient show the sex genotype of the transplant donor [22]. This conclusion has been extrapolated to the scenario of maternal plasma cffDNA in pregnancy and appears to be accepted by many workers in the field [23][24][25].…”

Section: Circulating Cffdnamentioning

confidence: 91%

Fetal CNAPS – DNA/RNA

2014

Advances in Predictive, Preventive and Personalised Medicine

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The discovery of fetal circulating nucleic acids in maternal plasma and serum has revolutionized prenatal genetic testing by providing a non-invasive source of fetal genetic material. Since fetal DNA coexists with a high background of maternal DNA in the maternal plasma, early studies in the field have been focused on the detection of paternally inherited sequences that are absent from the maternal genome. This approach has been applied to fetal sex and blood type determination, as well as the detection of paternally inherited mutations causing single-gene disorders. The emergence of single molecule counting technologies, such as digital PCR and massively parallel sequencing, have allowed the detection of subtle allelic imbalances and the precise quantification of sequences in the maternal plasma. This precise quantification has enabled the deduction of maternally inherited fetal monogenic diseases, as well as the accurate detection of fetal chromosomal aneuploidies. While some of the applications of fetal circulating nucleic acid have been rapidly incorporated into clinical practice, a number of ethical, legal and social issues have been raised regarding the current and potential use of this technology. Overall, research on fetal circulating nucleic acids in maternal plasma and serum is a rapidly developing and exciting area. It is envisioned that the use of fetal circulating nucleic acids in maternal plasma and serum will play an increasingly important role in prenatal care.

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Noninvasive prenatal diagnosis of aneuploidy using cell‐free nucleic acids in maternal blood: promises and unanswered questions

Cited by 15 publications

References 80 publications

With new prenatal testing, will babies with Down syndrome slowly disappear?

With new prenatal testing, will babies with Down syndrome slowly disappear?

Noninvasive Prenatal Diagnosis of Down Syndrome in Samples from Southwest Chinese Gravidas Using Pregnant Plasma Placental RNA Allelic Ratio

Fetal CNAPS – DNA/RNA

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