Autism appears to stem from a variety of causes. But the results point to the ability of the new test--Xpansion Interpreter--to boost the standard of care in properly predicting the likelihood of a child born with Fragile X syndrome. And the test could save unnecessary prenatal screening in the long run, lead author Sally Nolin explained to FierceMedicalDevices via email.
"With the greater awareness of Fragile X among healthcare professional and the public, increasing numbers of pregnant women are being screened to detect their carrier status," said Nolin, director of the Fragile X Laboratory at the New York Institute for Basic Research in Developmental Disabilities. "We now know that many of the women found to be carriers do not have a high risk for having a child with Fragile X. This test allows us to identify those women at greatest risk and to avoid unnecessary prenatal testing in those that are not."
Details will be published in the American Journal of Medical Genetics in April. Though March 21 attendees at an American College of Medical Genetics and Genomics Annual Clinical Genetics meeting in Phoenix, AZ got to hear details during a study presentation.
Fragile X syndrome happens when production of a protein needed for normal brain development becomes altered by a mutation in the FMR1 gene. Specifically, the CGG section of the genetic code repeats on a fragile area of the X chromosome, the researchers explain. The company's diagnostic test predicts how likely the CGG repeats will be by identifying whether an AGG DNA sequence is present. AGG is crucial because it can stabilize CGG repetition. More than 55 CGG repeats can lead to Fragile X in a child, according to the research team.
What the test found, in part: the risk for Fragile X syndrome becomes greater for premutation carriers that that don't have any AGG interruptions. Among other revelations: they identified 9 transmissions of the full Fragile X expansion mutation in the study, and all were from mothers with CGG repeat regions lacking AGG sequences.
The push to properly diagnose autism spectrum disorders includes a number of players these days. Among then: SynapDx, which is developing a blood diagnostic test. The company also recently paired with gene sequencer Illumina ($ILMN) to develop diagnostic tools for autism spectrum disorders and other neurodevelopmental conditions.
- here's the full release