FDA Approves Genetic Test That Helps Explain Developmental Problems in Kids

Experts caution that it should only be given to young children when problems first appear

  • Print

FRIDAY, Jan. 17, 2014 (HealthDay News) -- The U.S. Food and Drug Administration approved on Friday a first-of-its-kind blood test that can scan a child's genetic code and spot possible genetic explanations for developmental delays or intellectual disabilities.

The test can identify variations in chromosomes that are linked to such disorders as Down syndrome, DiGeorge syndrome and other developmental disabilities, the FDA said in a news release.

"This test is going to provide an additional diagnostic tool for treatment of children with identified developmental problems and disabilities," said Dr. Annemarie Stroustrup, an assistant professor of pediatrics and newborn medicine at Mount Sinai Hospital in New York City.

It could speed up the diagnosis of these problems, "which could open the door for better and more targeted treatment," Stroustrup said. "It will also give families a more accurate prognosis for children who have genetic causes for their developmental disability."

Stroustrup stressed, however, that the test isn't a screening tool to predict the future mental ability of a child. "It would be unethical to use it that way," she said.

"It's more of a diagnostic test for children who have pre-existing problems," Stroustrup said. Parents should wait until the child is a toddler and showing signs of developmental problems before considering this test, she added.

The test, called CytoScan Dx, analyzes a child's entire genome, the FDA said in the statement. Affymetrix Inc., based in Santa Clara, Calif., manufactures the test.

The FDA cautioned, however, that "the test results should only be used in conjunction with other clinical and diagnostic findings."

This recommendation is the most important part of Friday's announcement, said Rahil Briggs, director of Pediatric Behavioral Health Services at Montefiore Medical Center in New York City.

"I support all innovations that can reliably aid our ability to make accurate diagnoses, leading to appropriate interventions," Briggs said.

"However, any diagnosis of developmental delay requires multiple sources of information, including clinical observation by a trained professional," Briggs added.

Between 2 percent and 3 percent of U.S. children have some type of intellectual disability. Many of these disabilities, such as Down syndrome and DiGeorge syndrome, are associated with chromosomal variations, according to the U.S. National Institutes of Health and the American Academy of Pediatrics.

In approving the test, the FDA found that the screen could "adequately" detect chromosome variations in areas of genetic code linked with intellectual and developmental disabilities.

The agency also compared the new test with existing tests commonly used for identifying a particular developmental delay or intellectual disability. That comparison showed that the new test was better at spotting certain chromosomal abnormalities.

Dr. David Mendez, a neonatologist at Miami Children's Hospital, advised parents to be cautious about having such a test.

"Any genetic testing you do of your child has to be in consultation with a pediatric geneticist," he said.

Mendez said he'd also restrict the test to children who already show signs of a developmental problem.

More information

Visit the U.S. Centers for Disease Control and Prevention for more on child development.

Fact Check

Fact Check

Have you found an error, or know of something we’ve missed in one of our stories?
Please use the form below and let us know.

* Required
  • Please post the headline of the story or the title of the video with the error.

  • Please post exactly what was wrong with the story.

  • Please indicate your source for the correct information.

  • Yes


  • This will only be used to contact you if we have a question about your submission, it will not be used to identify you or be published.

  • Cancel

Having problems with the form?

Contact Us Directly
  • Print

You can comment on most stories on You can also agree or disagree with other comments. All you need to do is be a Winnipeg Free Press print or e-edition subscriber to join the conversation and give your feedback.

You can comment on most stories on You can also agree or disagree with other comments. All you need to do is be a Winnipeg Free Press print or e-edition subscriber to join the conversation and give your feedback.

Have Your Say

New to commenting? Check out our Frequently Asked Questions.

Have Your Say

Comments are open to Winnipeg Free Press print or e-edition subscribers only. why?

Have Your Say

Comments are open to Winnipeg Free Press Subscribers only. why?

The Winnipeg Free Press does not necessarily endorse any of the views posted. By submitting your comment, you agree to our Terms and Conditions. These terms were revised effective April 16, 2010.


Make text: Larger | Smaller


Winnipeg Cheapskate: Home buying

View more like this

Photo Store Gallery

  • A Great Horned Owl that was caught up in some soccer nets in Shamrock Park in Southdale on November 16th was rehabilitated and returned to the the city park behind Shamrock School and released this afternoon. Sequence of the release. December 4, 2012  BORIS MINKEVICH / WINNIPEG FREE PRESS
  • A mother goose has chosen a rather busy spot to nest her eggs- in the parking lot of St Vital Centre on a boulevard. Countless cars buzz by and people have begun to bring it food.-Goose Challenge Day 06 - May 08, 2012   (JOE BRYKSA / WINNIPEG FREE PRESS)

View More Gallery Photos


Should the federal government be able to censor how Ottawa is portrayed in the CMHR?

View Results

Ads by Google