Amano T, Jeffries E, Amano M, Ko AC, Yu H, Ko MSH: Correction of Down syndrome and Edwards syndrome aneuploidies
in human cell cultures.
Since virtually all cancers have somatic genetic alterations that can be reflected in circulating cfDNA, and many of these derangements include chromosome 21, 18, and 13 (the focus of NIPT), it is plausible that discordant NIPT results could be explained by the presence of a maternal malignancy, particularly if the results of NIPT show multiple aneuploidies
," they wrote.
NIPT uses cell-free DNA from maternal serum to screen for common fetal aneuploidies
with high sensitivity and specificity.
The vast majority of these aneuploidies
are lethal, either by causing embryonic growth arrest before implantation or by spontaneous abortion of the developing fetus during the first trimester of pregnancy.
are the most common chromosomal error and are seen in at least 5% of clinical births, with some abnormalities not being realized until puberty (Hassold and Hunt 2001).
Topics include DNA methylation analyses, in-cell PCR, analysis of PCR products by denaturing high-performance liquid chromatography, use of real-time PCR for the detection of fetal aneuploidies
, molecular analysis of circulating RNA in plasma, detection and quantitation of circulating plasmodium falciparum DNA by PCR, and genomic sequencing of the severe acute respiratory syndrome- coronavirus.
It is the first non-invasive prenatal test that offers the option to include evaluation of sex chromosome aneuploidies
, such as Turner syndrome (Monosomy X), Triple X (XXX), Klinefelter syndrome (XXY) and Jacobs syndrome (XYY) - the most common fetal sex chromosome abnormalities.
Nasdaq: NTRA), a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, today announced new data that supports the use of non-invasive prenatal testing (NIPT) as a first line screening for chromosomal aneuploidies
and related conditions.
Also revealed in the study was cell-free DNA testing's essentially 100% negative predictive value for aneuploidies
in low-risk populations.
These include constitutional maternal aneuploidies
, most likely involving sex chromosomes, and conditions with intrinsic genomic alterations, such as solid tumors (Table 2).
are defined as an abnormal number of chromosomes and may involve the autosomal or sex chromosomes.
in offspring are primarily due to chromosomal segregation errors during the first meiotic division of oogenesis, with only a minor paternal contribution (Hassold et al.