Circulating fetal DNA: its origin and diagnostic potential-a review.

  title={Circulating fetal DNA: its origin and diagnostic potential-a review.},
  author={Diana W. Bianchi},
  volume={25 Suppl A},
  • D. Bianchi
  • Published 1 April 2004
  • Medicine, Biology
  • Placenta
Cell‐free fetal DNA in maternal plasma: an important advance to link fetal genetics to obstetric ultrasound
  • S. IllanesN. AventP. Soothill
  • Medicine, Biology
    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
  • 2005
The origin and clearance of fetal genetic material in the maternal circulation, its presence in urine, circulating RNA, prediction of D blood group, fetal sex and new single gene disorders are discussed.
Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research
Fruitful research efforts resulted in the clinical implementation of a number of non-invasive prenatal tests based on maternal plasma DNA analysis and included tests for fetal sex assessment, fetal rhesus D blood group genotyping and fetal chromosomal aneuploidy detection.
Fetal DNA in maternal plasma in preeclamptic pregnancies
If once fetal DNA should be used as a marker for determining preeclampsia at early stage, it is necessary to reduce variations via standardized protocols for the quantification of cell-free fetal DNA as well as its reporting in the publications.
Fetal Nucleic Acids in Maternal Circulation: A Genetic Resource for Noninvasive Prenatal Diagnosis
The 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.
Maternal levels of free fetal DNA are elevated in pregnancies with growth restriction due to placental dysfunction: A preliminary study
The level of ffDNA in maternal plasma is increased in pregnancies complicated by FGR secondary to placental dysfunction but not in those with small fetuses with normal placental function.
Prenatal diagnosis using cell‐free nucleic acids in maternal body fluids: A decade of progress
  • J. MaronD. Bianchi
  • Biology, Medicine
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2007
Prenatal diagnosis is poised to evolve from detection of aneuploidy to detection of deviation from normal development, which should provide novel opportunities for fetal treatment.
Quantification of Cell-Free DNA in Normal and Complicated Pregnancies: Overcoming Biological and Technical Issues
The characterization of cell-free DNA (cfDNA) originating from placental trophoblast in maternal plasma provides a powerful tool for non-invasive diagnosis of fetal and obstetrical complications. Due


Fetomaternal Cellular and Plasma DNA Trafficking
It is believed that fetal cells and fetal DNA transfer are closely related and should be studied and applied in a synergistic manner and opens up a new field of investigation and raises new physiologic and pathogenic implications.
Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia.
The results suggest that preeclampsia is associated with disturbances in the liberation and/or clearance mechanisms of circulating DNA and raise the possibility that measurement of circulatingDNA may prove useful as a marker for the diagnosis and/ or monitoring of preeClampsia.
Fetal DNA in maternal plasma: biology and diagnostic applications.
  • Y. Lo
  • Medicine
    Clinical chemistry
  • 2000
It has been only 3 years since fetal DNA was first detected in maternal plasma, and much remains to be learned about the biology of this phenomenon.
Correlation of fetal DNA and human chorionic gonadotropin concentrations in second-trimester maternal serum.
The present study examined the association between fetal DNA and hCG concentrations in maternal serum by simultaneously measuring fetalDNA and h CG concentrations in healthy pregnant women.
Presence of fetal DNA in maternal plasma decades after pregnancy
Not only fetal cells, but also fragments of fetal DNA can be present in the maternal circulation indefinitely after pregnancy, and this finding has practical implications for non-invasive prenatal diagnoses based on maternal blood, and may be considered for possible pathophysiological correlations.
Large amounts of cell-free fetal DNA are present in amniotic fluid.
The detection and/or quantification of fetal DNA sequences in maternal plasma have been used for a variety of clinical applications, including diagnosis of gender, Rhesus D genotype, single gene disorders, aneuploidy, and preeclampsia.
Down syndrome and cell-free fetal DNA in archived maternal serum.
Archived serum appears to be a useful source of clinical material for retrospective analyses but may require controlling for the duration of sample storage, and increased levels of cell-free fetal DNA in the maternal circulation are a potential noninvasive marker for fetal Down syndrome.
Fetal DNA in Maternal Plasma: Emerging Clinical Applications
Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses
The data suggest that a quantitative analysis of such fetal DNA levels may serve as an additional marker for certain fetal chromosomal abnormalities, in particular for trisomy 21.
Cell-free fetal DNA in the maternal circulation does not stem from the transplacental passage of fetal erythroblasts.
It appears that the release of cell-free fetal DNA from this cell type is affected by pathological placental conditions which are not associated with an increase in fetal cell trafficking, which is most evident in pregnancies affected by onset of preterm labour.