UCSD Introduces a Non-Invasive Fetal Chromosomal Abnormality Detection MethodMay 28, 2014
May 28, 2014
A collaboration of genomic scientists from the University of California, San Diego (UCSD) School of Medicine, and Chinese researchers collaborated to introduce a newly developed, benchtop semiconductor sequencing procedure and bioinformatics software tools for safer detection of chromosomal defects in fetuses.
There were 2,275 pregnant women who participated in the study performed at iGenomics in Guangzhou, China. This new method heavily relies on parallel sequencing of cell-free fetal DNA using an Ion Torrent sequencer, a semiconductor-sequencing platform (SSP) developed by Life Technologies. The cell-free fetal DNA is genetic material from the fetus that naturally travels in the mother’s bloodstream, which can be collected, and then now undergo thorough SSP analysis in less than four days.
According to Kang Zhang, MD, PhD, ophthalmology professor, founding director of the Institute for Genomic Medicine at UC San Diego, and a staff physician at the San Diego VA Healthcare System, “We believe this approach could become the standard of care for screening of prenatal chromosomal abnormalities.” He also said that to their knowledge, the study is the first of its kind—being “the first large-scale clinical research to systematically identify chromosomal aneuploidies based on cell-free fetal DNA using SSP.”
There are currently one in 160 live births with chromosomal abnormalities in the United States. Current diagnostic methods of fetal aneuploidies are often invasive, requiring collection of amniotic fluid samples or placental tissues for fetal DNA for analysis using several impractical, complicated, and expensive procedures like full karyotyping that involves microscopic analysis of the entire set of chromosomes. Although proven reliable and precise, such tests can cause infections to a pregnant woman, with a 1 percent risk for miscarriage and/or fetal death. Results can also take up to two weeks before availability, causing families unnecessary anxiety while waiting for the data.
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