Presence of fetal DNA in maternal plasma and serum

  title={Presence of fetal DNA in maternal plasma and serum},
  author={Yuk Ming Dennis Lo and Noemi Corbetta and Paul F. Chamberlain and Vik Rai and Ian L. Sargent and Christopher W. G. Redman and J. S. Wainscoat},
  journal={The Lancet},
Evaluation of different approaches for fetal DNA analysis from maternal plasma and nucleated blood cells.
The present work compares single PCR on plasma DNA with nested PCR on DNA extracted from plasma or nucleated blood cells with established methodologies of nested amplification of DNA prepared from intact cells to study the release and clearance of fetal DNA from maternal plasma.
High Sensitivity of Fetal DNA in Plasma Compared to Serum and Nucleated Cells Using Unnested PCR in Maternal Blood
It is concluded that optimal sensitivity requires two methods of DNA extraction and that the use of plasma is preferred to that of serum, while fetal gender could not reliably be determined from DNA extracted from maternal nucleated blood cells.
Successful diagnosis of fetal gender using conventional PCR analysis of maternal serum.
PCR analysis of maternal serum can be used to diagnose fetal gender and neither DYS14 nor DYZ3 was detected in either the plasma or serum samples obtained from any of the 30 pregnant women carrying a female fetus.
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.
Accuracy of fetal gender determination by analysis of DNA in maternal plasma.
The present study evaluated the diagnostic accuracy of fetal gender determination using cell-free DNA from maternal plasma obtained at early gestation using a real-time, quantitative PCR assay and analyzed SRY, a single-copy Y-chromosome-specific sequence, to quantify the number of genome-equivalents per milliliter of blood.
Rapid clearance of fetal DNA from maternal plasma.
The rapid turnover of circulating DNA suggests that plasma DNA analysis may be less susceptible to false-positive results, which result from carryover from previous pregnancies, than is the detection of fetal cells in maternal blood; also, rapid turnover may be useful for the monitoring of feto-maternal events with rapid dynamics.
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.
Presence of fetal RNA in maternal plasma.
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 apoptotic fetal cells in plasma of pregnant women.
It is explored the possibility that not all of this fetal DNA in plasma of pregnant women is soluble and cell-free, but that part of it is still cell-associated.
Automated assay for fetal DNA analysis in maternal serum.
Real-time PCR is now the most widely used amplification system for fetal DNA analysis because it allows high sensitivity with a high degree of protection against contamination and reduces the risk of false-positive results from carryover of PCR products.


Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology.
Isolating and analyzing fetal cells from maternal blood is clearly possible and several key biologic questions remain--the optimal cells for isolation, frequency of cells in maternal blood, timing during gestation for maternal blood sampling, and the likelihood of persistence of fetal cells after delivery.
Two-way cell traffic between mother and fetus: biologic and clinical implications.
There was no obvious correlation between the cell traffic from mother to baby as compared to that from baby to mother, and these findings may have implications for the use of cord blood for bone marrow transplantation, the vertical transmission of infectious agents, and the physiology of the feto-maternal relationship.
Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood.
Results unequivocally show that nucleated fetal cells are present in maternal blood during pregnancy, and demonstrate for the first time that prenatal diagnosis of a genetic disease may be feasible without invasive procedures.
Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood
In two pregnancies at risk for sickle cell anaemia and β–thalassaemia, the fetal genotypes are successfully identified and prenatal diagnosis of single gene disorders by recovering fetal cells from maternal circulation appears to be a feasible approach.
Microsatellite alterations in serum DNA of head and neck cancer patients
Six out of 21 patients with primary head and neck squamous cell carcinoma were found to have one or more microsatellite alterations in serum precisely matching those in the primary tumors, representing a novel method for the detection of circulating tumor cell DNA.
Neoplastic characteristics of the DNA found in the plasma of cancer patients.
About one third of patients with various malignant diseases were found to have extractable amounts of DNA in their plasma whereas no DNA could be detected in normal controls. Using the test
Amplification of specific gene products from human serum.
Microsatellite alterations in plasma DNA of small cell lung cancer patients
If confirmed in larger studies, microsatellite analysis of plasma DNA might constitute a new tool for tumor staging, management and, possibly, detection.
Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease
DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR) for the first time.