Scientists are developing a smartphone app that they say can accurately detect Down syndrome in infants soon after birth.
Down syndrome, a genetic disorder that affects about 1-in-1,000 children worldwide, causes physical and intellectual disabilities. Early detection is beneficial to the development of children with the disorder, but that requires sophisticated medical tests not available everywhere.
In developed countries, Down syndrome is often detected during prenatal screenings. But in less-developed countries, these tests are often not available.
Marius Linguraru, a principal investigator at Washington’s Sheikh Zayed Institute for Pediatric Surgical Innovation
, said genetic defects can be hard to diagnose after a baby is born.
“In obvious cases, we can just tell by looking at the newborn. But, in subtle cases, this is very difficult, even for a geneticist or experienced dysmorphologist,” Linguraru said.
To help diagnose these cases, researchers at the institute have developed a computer program that detects Down syndrome immediately after birth.
Linguraru says the technology is extremely easy to use. “You take your phone, take a snapshot and the technology … will give us a score of, let’s call it severity, of the child having the syndrome or not.”
The software analyzes the uploaded photo, comparing certain areas of the baby’s face with thousands of stored photos, even taking into account the ethnic background.
Linguraru said the technology has an accuracy rate of about 97 percent, which is about as good as having an experienced dysmorphologist in the delivery room.
Scientists are still testing the technology and are working on a version that will allow direct access to the database from a smartphone, so any pediatrician, nurse or midwife could take a picture and get instant results.
Linguraru also said that using the new software could dramatically reduce the number of children genetically tested for Down syndrome -- two-thirds of whom end up not having the condition -- lowering the emotional stress for parents and costs to the health care system.