Noninvasive Test for Chromosomal Defects in the Fetus

Tuesday, February 5, Cody L. and I presented Noninvasive Test for Chromosomal Defects in the Fetus. This test is new technology in development to detect chromosomal abnormalities in a fetus through a mother’s blood sample. Using Massive parallel sequencing, the fetal DNA can be isolated in the blood and read in many short bursts at one time. This allows for the DNA to be decoded and assembled together to reflect the entire genome.
The positive side to this technology is the safer method of testing. Currently, more dangerous or less accurate tests are used. An amniocentesis is the most reliable method of currently determining chromosomal defects in the fetus, yet it is coupled with the highest risk. In order to gain a sample of the amino, a needle is inserted through the mother’s belly into the sterile amniotic fluid. This needle can introduce pathogens causing and infection, a or even lead to a spontaneous abortion upon entry, which is argued to be between a 1 in 200 or 1 in 1600 risk. There are also methods of calculating a probability of defects with in the fetus either by a visual clues or maternal hormone screening. Neither of these methods are very reliable, however, and generally lead to an amniocentesis for confirmation. The new technology and methods being developed allows for a harmless blood draw from the mother. The blood can be analyzed for fetal DNA fragments present. These fragments can then be isolated and decoded. The process of decoding is preliminarily test to be just as accurate as MicroArray technology, currently the most accurate method of decoding and translating DNA.