Many studies have demonstrated the capacity to detect fetal aneuploidies
from maternal cfDNA with high analytical sensitivity and specificity (4-25).
There were no reported aneuploidies
among the cases with known birth outcomes (90.
In one study of women found to be at increased risk based on traditional multiple marker screening, if cfDNA were chosen instead of diagnostic testing, 17% of the aneuploidies
present in this group would not have been detected.
24%) were aneuploidies
involved in the 13, 16, 18, 21, 22, X, and Y chromosomes.
Bianchi said that the highest risk group is that of women with multiple aneuploidies
, "or suspiciously a single autosomal monosomy," the type of cases that "may warrant more detailed analysis of the whole genome.
Prenatal screening of aneuploidies
by quantitative fluorescent PCR.
generated after a 24-hr test interval arise from the impairment of late meiotic (late pachytene and onward) and early embryonic processes, whereas the 65-hr interval captures aneuploidies
originating from the disruption of any mitotic and meiotic events in the germline in addition to early embryonic stages.
Preimplantation diagnosis of the aneuploidies
most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22.
We are now in a strong position to exploit the clinical utility and proprietary science behind the noninvasive detection of trisomy 21 and eventually other aneuploidies
using shotgun sequencing as initially developed by Dr.
KEY WORDS: Chromosomal instability; Carcinomas; Aneuploidies
WASHINGTON -- First-trimester nuchal translucency screening shows great promise for the early detection of Down syndrome and other aneuploidies
, but its detection rate is highly variable and remains dependent on the skill of the individual sonographer.
The verifi([R])test, which is performed at Verinata's CLIA-certified, California laboratory, uses a single maternal blood draw as early as 10 weeks of pregnancy to detect multiple fetal chromosomal aneuploidies