Stories about: newborns

Newborn DNA sequencing finds actionable disease risks in nearly 10% of enrolled babies

BabySeq study sequenced the DNA of 159 newborns
(PHOTO: AdobeStock)

Current newborn screening tests a baby’s blood for several dozen known, treatable conditions. Can full-on DNA sequencing at birth add more benefit? Interpreting sequencing results is complex: having a genetic variant doesn’t always mean having the disease, and many of the conditions identified may not currently be treatable.

To explore what DNA sequencing might turn up, the BabySeq study, an NIH-funded project, was in launched in 2015. A team led by Ozge Ceyhan-Birsoy, PhD of Partners HealthCare and Alan H. Beggs, PhD, now reports the comprehensive results of whole-exome sequencing in 159 infants. Their analysis is published in the American Journal of Human Genetics.

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Bringing MRI to vulnerable newborns

Premature newborn in small-bore MRI magnet-courtesy Cincinnati Children's
A 4.2-lb baby girl in the new 1.5 Tesla MRI magnet, designed for use in the NICU. (Images courtesy of Cincinnati Children’s Hospital Medical Center)
Charles Dumoulin, PhD, is the director of the Imaging Research Center at Cincinnati Children’s Hospital Medical Center (CCHMC) and a professor of pediatric radiology at University of Cincinnati College of Medicine. He led the team of scientists and engineers from CCHMC’s Imaging Research Center who won the Clinical Innovation Award at Boston Children’s Hospital’s National Innovation Pediatric Summit + Awards in September.

Experience suggests that magnetic resonance imaging (MRI) and advanced MR techniques such as spectroscopy and diffusion imaging offer substantial benefits when diagnosing problems in premature babies. However, today’s MR systems poses significant logistical barriers to imaging these infants. We have been working to change that.

MRI provides an unparalleled ability to visualize anatomy without the hazards of ionizing radiation. Yet premature and sick babies in neonatal intensive care units (NICUs) are usually too delicate to leave the unit. The few babies who receive MRI today must be accompanied by NICU staff during transport to and from the Radiology Department. This process is often a multi-hour ordeal and reduces the staff available to care for other babies in the NICU. Moreover, infants must be imaged in an adult-sized MRI scanner

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