Talk:Fetal Cells in Maternal Blood
| About Discussion Pages |
|---|
Glossary Links
Cite this page: Hill, M.A. (2024, May 19) Embryology Fetal Cells in Maternal Blood. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Fetal_Cells_in_Maternal_Blood |
2013
Non-invasive prenatal testing for aneuploidy: current status and future prospects
Ultrasound Obstet Gynecol. 2013 Jul;42(1):15-33. doi: 10.1002/uog.12513.
Benn P1, Cuckle H, Pergament E.
Abstract
Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of established screening and invasive technologies, the range of cytogenetic abnormalities detectable, cost, counseling and ethical issues. Current NIPT approaches involve whole-genome sequencing, targeted sequencing and assessment of single nucleotide polymorphism (SNP) differences between mother and fetus. Clinical trials have demonstrated the efficacy of NIPT for Down and Edwards syndromes, and possibly Patau syndrome, in high-risk women. Universal NIPT is not cost-effective, but using NIPT contingently in women found at moderate or high risk by conventional screening is cost-effective. Positive NIPT results must be confirmed using invasive techniques. Established screening, fetal ultrasound and invasive procedures with microarray testing allow the detection of a broad range of additional abnormalities not yet detectable by NIPT. NIPT approaches that take advantage of SNP information potentially allow the identification of parent of origin for imbalances, triploidy, uniparental disomy and consanguinity, and separate evaluation of dizygotic twins. Fetal fraction enrichment, improved sequencing and selected analysis of the most informative sequences should result in tests for additional chromosomal abnormalities. Providing adequate prenatal counseling poses a substantial challenge given the broad range of prenatal testing options now available. Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd. KEYWORDS: Down syndrome, amniocentesis, aneuploidy, chorionic villus sampling, fetal DNA, maternal plasma, screening, sequencing, trisomy
PMID 23765643
1997
Presence of fetal DNA in maternal plasma and serum
Lancet. 1997 Aug 16;350(9076):485-7.
Lo YM1, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS.
Abstract
BACKGROUND: The potential use of plasma and serum for molecular diagnosis has generated interest. Tumour DNA has been found in 'the plasma and serum of cancer patients, and molecular analysis has been done on this material. We investigated the equivalent condition in pregnancy-that is, whether fetal DNA is present in maternal plasma and serum. METHODS: We used a rapid-boiling method to extract DNA from plasma and serum. DNA from plasma, serum, and nucleated blood cells from 43 pregnant women underwent a sensitive Y-PCR assay to detect circulating male fetal DNA from women bearing male fetuses. FINDINGS: Fetus-derived Y sequences were detected in 24 (80%) of the 30 maternal plasma samples, and in 21 (70%) of the 30 maternal serum samples, from women bearing male fetuses. These results were obtained with only 10 microL of the samples. When DNA from nucleated blood cells extracted from a similar volume of blood was used, only five (17%) of the 30 samples gave a positive Y signal. None of the 13 women bearing female fetuses, and none of the ten non-pregnant control women, had positive results for plasma, serum or nucleated blood cells. INTERPRETATION: Our finding of circulating fetal DNA in maternal plasma may have implications for non-invasive prenatal diagnosis, and for improving our understanding of the fetomaternal relationship. Comment in Non-invasive prenatal diagnosis of fetal aneuploidies. [Lancet. 2007]
PMID 9274585
