PLAC4 and β‐HCG mRNA levels are not altered in the maternal circulation of pregnancies with trisomy 21

Banzola, Irina; Rusterholz, Corinne; Zannoni, Letizia; Rizzo, Nicola; Zhong, Xiao Yan; Caramelli, Elisabetta; Holzgreve, Wolfgang; Farina, Antonio; Hahn, Sinuhe

doi:10.1002/pd.2163

Cited by 7 publications

(8 citation statements)

References 40 publications

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“…The discoveries of cell-free fetal DNA [4] and later placental mRNA [5] in maternal plasma have offered new opportunities for the development of noninvasive prenatal diagnosis [9]. More recently, placental expressed and pregnancy-associated transcripts have been reported to be detectable in maternal whole blood [10]–[14]. As the RNA yield in whole blood far exceeds that of plasma, we explored in this study if maternal whole blood might represent a better specimen type for the detection of fetal specific placenta-derived mRNA.…”

Section: Discussionmentioning

confidence: 99%

“…CSH1 , CGB and placenta-specific 4 ( PLAC4 , NM_182832) mRNA concentrations were reported to be much higher in maternal whole blood than plasma [12], [14]. Indeed, the total RNA content of whole blood is higher than plasma.…”

Section: Introductionmentioning

confidence: 99%

“…Besides maternal plasma, maternal whole blood has been reported to be another medium for fetal mRNA detection [10]–[14]. CSH1 , CGB and placenta-specific 4 ( PLAC4 , NM_182832) mRNA concentrations were reported to be much higher in maternal whole blood than plasma [12], [14].…”

Section: Introductionmentioning

confidence: 99%

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Placenta-Derived Fetal Specific mRNA Is More Readily Detectable in Maternal Plasma than in Whole Blood

et al. 2009

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BackgroundPlacental mRNA was detected in maternal whole blood, raising the possibility of using maternal blood for noninvasive prenatal diagnosis. We investigated fetal mRNA detection in maternal whole blood and determined if it offered advantages over maternal plasma analysis.MethodologyThe concentrations of placental expressed genes, CSH1, KISS1, PLAC4 and PLAC1 in plasma and whole blood from healthy pregnant and non-pregnant individuals were compared by real-time quantitative reverse-transcriptase polymerase chain reaction analysis. Their fetal specificity was investigated by comparing the transcript concentrations in pre- and post-delivery samples and through SNP genotyping by matrix-assisted laser-desorption and ionization time-of-flight mass spectrometry. The gene expression profiles of pregnant and non-pregnant whole blood were investigated by microarray analysis. Upregulated genes in pregnant whole blood were selected for further quantitative analysis.Principal FindingsThe concentrations of the four transcripts were significantly higher in third trimester maternal whole blood than corresponding plasma without significant correlations. KISS1, PLAC4 and PLAC1 were detected in non-pregnant whole blood but not plasma. The transcripts remained detectable in some postpartum whole blood samples. The PLAC4 mRNA in maternal plasma showed fetal genotype while that in corresponding whole blood indicated both fetal and maternal contributions. Microarray analysis revealed upregulation of genes involved in neutrophil functions in pregnant whole blood including DEFA4, CEACAM8, OLFM4, ORM1, MMP8 and MPO. Though possibly pregnancy-related, they were not pregnancy-specific as suggested by the lack of post-delivery reduction in concentrations.ConclusionsMaternal plasma is preferred over maternal whole blood for placenta-derived fetal RNA detection. Most studied ‘placental’ mRNA molecules in maternal whole blood were of maternal origin and might be derived from processes such as ‘illegitimate transcription’.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Placenta-Derived Fetal Specific mRNA Is More Readily Detectable in Maternal Plasma than in Whole Blood

et al. 2009

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“…Of the chromosome 21 identified candidate genes, PLAC-4 was the most abundant and was later shown to be polymorphic. Furthermore, it has recently been shown that the expression of PLAC-4 is unaltered in trisomy 21 fetuses [26].…”

Section: Determination Of Fetal Aneuploidy By Allelic Ratio Discriminmentioning

confidence: 99%

Cell-free fetal DNA in the maternal serum and plasma: current and evolving applications

Avent

Madgett²,

Maddocks³

et al. 2009

Current Opinion in Obstetrics &Amp; Gynecology

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“…It has been further proposed that the SNPs associated with such candidate genes need to be different between mother and father in order to achieve allelic discrimination [16,37]. However, one group showed that the expression of PLAC4 is unaltered in trisomy 21 fetuses [72].…”

Section: Determination Of Fetal Aneuploidy By Allelic Ratio Discriminmentioning

confidence: 99%

Fetal Nucleic Acids in Maternal Circulation: A Genetic Resource for Noninvasive Prenatal Diagnosis

Banerjee

Misra

2013

ISRN Genetics

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Invasive prenatal diagnosis (PND) holds a multitude of psychological considerations for women, their partners, family and community as a whole. Earlier, the non-invasive screening methods for certain disorders were serum analytes or ultrasound with low sensitivity and high false positivity. e discovery of fetal DNA in maternal plasma has opened up an approach for noninvasive PND (NIPD). Presence of fetal cells and cell-free fetal DNA (cffDNA) in the blood of pregnant women has been accepted universally and constant efforts are being made to enrich fetal DNA from maternal blood/plasma. Real-time quantitative polymerase chain reaction (qrt-PCR) has enabled fetal DNA to serve as a marker for chromosomal abnormalities, for example, trisomy 21, preterm labor, and preeclampsia. In India, PND is provided in few centers since invasive methods require trained gynecologists, this limits investigation and therefore NIPD with cffDNA from mother's blood will revolutionize fetal medicine. e present paper deals with the latest developments in procurement of cffDNA, the probable source and enrichment of fetal DNA in maternal plasma, and the current status of its detection methodologies, applications, and its potential to be used as a powerful diagnostic tool.

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PLAC4 and β‐HCG mRNA levels are not altered in the maternal circulation of pregnancies with trisomy 21

Abstract: Maternal blood levels of beta-HCG-, PLAC4- and PAPP-A mRNAs are not useful markers for the screening of pregnancies with trisomy 21 as their concentrations are either not significantly altered (beta-HCG and PLAC4) or too low to be detected (PAPP-A).

Cited by 7 publications

References 40 publications

Placenta-Derived Fetal Specific mRNA Is More Readily Detectable in Maternal Plasma than in Whole Blood

Placenta-Derived Fetal Specific mRNA Is More Readily Detectable in Maternal Plasma than in Whole Blood

Cell-free fetal DNA in the maternal serum and plasma: current and evolving applications

Fetal Nucleic Acids in Maternal Circulation: A Genetic Resource for Noninvasive Prenatal Diagnosis

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