New approach improves detection of diseases at birth

September 13, 2018 by Bill Hathaway, Yale University

The combination of a new sequencing technique and machine learning can speed up the diagnosis of diseases in newborns and reduce false-positive results, Yale researchers and their collaborators report.

Blood is routinely drawn from a pinprick of an infant's heel shortly after birth and analyzed for a host of preventable diseases, including more than 40 rare but potentially disabling and serious . The blood tests are highly sensitive and present a drawback—in many cases they indicate a disorder when none is present.

For instance, reviews of a database of California newborns show that for 100 infants correctly identified as testing positive for methylmalonic acidemia (MMA), an inborn metabolic disorder that causes failure to thrive and can lead to fatal neonatal disease, more than 500 babies were falsely identified as having the disorder.

These false-positive results can cause great anxiety for parents and prompt a battery of tests before they are revealed, said Curt Scharfe, associate professor of genetics and senior author of the new research, which was published Sept. 12 in the journal Genetics in Medicine.

"The time until confirmation is stressful for families, places a burden on the health care system, and in some cases could delay the right treatment for these infants." Scharfe said.

By introducing a completely new data analysis method, researchers are able to examine an entire metabolic profile that allows for more precise analysis than previous methods, which focus on a smaller fraction of data collected. The new sequencing method developed by the researchers correctly identified 89% of the newborns with MMA.

The team believes it can further increase the sensitivity of MMA gene sequencing to that of another newborn DNA test (for cystic fibrosis) they have clinically validated recently. However, "by combining sequencing with our novel , we've made a big difference in reducing MMA false-positive results," Scharfe said.

The new combination of sequencing and data analysis can be used to complement existing routine blood work to avoid lengthy testing and speed up the treatment for babies in need of early and additional care, the authors say. Following further clinical validation, the goal is to implement the new testing methods by working with public Newborn Screening (NBS) programs in the U.S. and worldwide.

Explore further: Researchers develop fast, accurate cystic fibrosis test

More information: Gang Peng et al. Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia, Genetics in Medicine (2018). DOI: 10.1038/s41436-018-0272-5

Related Stories

Researchers develop fast, accurate cystic fibrosis test

February 2, 2016
Researchers at the Stanford University School of Medicine have developed a fast, inexpensive and highly accurate test to screen newborns for cystic fibrosis. The new method detects virtually all mutations in the CF gene, ...

Should all babies have their genomes sequenced?

August 15, 2018
As the cost of genome sequencing decreases, researchers and clinicians are debating whether all newborns should be sequenced at birth, facilitating a lifetime of personalized medical care. But while sequencing the genomes ...

Fetal DNA sequencing potentially could reduce need for invasive prenatal diagnostic procedures

August 2, 2018
Sequencing the fetal DNA that circulates in a pregnant woman's blood holds promise for modern genomic medicine, according to a review article by Diana W. Bianchi, M.D., a senior researcher and institute director at the National ...

First newborn screening test approved for rare immune disorder

December 16, 2014
(HealthDay)—The first test to screen for Severe Combined Immunodeficiency (SCID) in newborns has been approved by the U.S. Food and Drug Administration.

Should whole-genome sequencing become part of newborn screening?

March 26, 2014
Should whole-genome sequencing be used in the public-health programs that screen newborns for rare conditions? That question is likely to stir debate in coming years in many of the more-than-60 countries that provide newborn ...

Whole genome sequencing helps diagnosis and reduces healthcare costs for newborns in intensive care

June 18, 2018
Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. Whole genome sequencing ...

Recommended for you

Fatty acids can slow down an overheated immune system

September 21, 2018
Sometimes, the immune system mistakenly attacks the body's healthy tissue by responding to infections that do not exist. This causes chronic inflammation and leads to diseases including lupus (SLE), and this is what happens ...

Researchers identify new genetic disorder

September 21, 2018
Researchers from Michigan State University College of Human Medicine and physicians from Spectrum Health have identified for the first time in a human patient a genetic disorder only previously described in animal models.

Patient-centered visual aid helps physicians discuss risks, treatments with parents

September 21, 2018
A series of illustrations and charts designed as decision aids for parents of children with minor head injuries helped them communicate with emergency medicine physicians and make informed decisions about their child's care, ...

Study shows surprise low-level ozone impact on asthma patients

September 21, 2018
A new study led by UNC School of Medicine researchers indicates that ozone has a greater impact on asthma patients than previously thought. The study, published in the Journal of Allergy and Clinical Immunology, recruited ...

Test could detect patients at risk from lethal fungal spores

September 20, 2018
Scientists at The University of Manchester have discovered a genetic mutation in humans linked to a 17-fold increase in the amount of dangerous fungal spores in the lungs.

Fish-rich diets may boost babies' brain development

September 20, 2018
Women could enhance the development of their unborn child's eyesight and brain function by regularly eating fatty fish during pregnancy. This is the suggestion from a small-scale study led by Kirsi Laitinen of the University ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.