DNA Test Identifies Genetic Causes of Severe Fetal and Newborn Illness

A new study by University of California researchers shows the promise of high-throughput DNA-sequencing technologies to improve prenatal diagnosis and pregnancy outcomes for women who have experienced an abnormal prenatal ultrasound.

In the UC San Francisco-led study, scientists used a technique called exome sequencing to identify genetic diseases as the underlying cause in 37 of 127 cases of nonimmune hydrops fetalis (NIHF), a life-threatening condition in which the fetus is overloaded with fluid. The study was published online Oct. 7 in The New England Journal of Medicine (NEJM).

Link to article:

UCSF News: DNA Test Identifies Genetic Causes of Severe Fetal and Newborn Illness

NIH: DNA sequencing technique helpful for identifying genetic causes of fetal fluid buildup, NIH-funded study suggests