Genetic Tests of Amniotic Fluid Could Help Guide Treatment of Preterm Births

Researchers funded in part by the March of Dimes report that they have identified a way to conduct genetic tests of amniotic fluid in pregnant women to better determine the medical needs of premature babies, it was reported today in the journal BMC Medical Genomics.

Critical development of vital organs such as the brain, heart, and lungs occurs during the final weeks of pregnancy, which should last at least 39 weeks, the March of Dimes says. Today’s finding is important because no test currently exists that can reliably measure the maturity of these organs before birth, the authors note.

Preterm birth is the leading killer of babies in the United States, and those who survive an early birth often face serious and sometimes lifelong health challenges, such as breathing problems, jaundice, developmental delays, vision loss, and cerebral palsy. Even babies born just a few weeks too soon have higher rates of death and disability than full-term babies. However, some medical conditions make it necessary for babies to be delivered before the full 39 weeks of pregnancy.

"This study demonstrates the feasibility of testing amniotic fluid to identify biomarkers for fetal organ maturation to better enable obstetricians to make delivery planning decisions for preterm births," said Beena Kamath-Rayne, MD, MPH, a lead author and researcher in the Perinatal Institute at Cincinnati Children's Hospital. "This will allow pediatricians and neonatologists to prepare for the various neonatal morbidities these preterm infants may face, and allow obstetricians to better weigh risks to the baby when making decisions about preterm delivery."

Researchers identified 257 genes that were expressed differently in late preterm fetuses (34-36 weeks) compared to those at full-term. Through additional analysis, the authors linked genes expressed differently in preterm babies to underdeveloped lungs, decreased lean body mass, and immature feeding patterns. The authors emphasize that additional research is needed beyond the current study, in part because of the small study sample.

Co-author Louis J. Muglia, MD, PhD, is the principal investigator of the March of Dimes Prematurity Research Center – Ohio Collaborative, composed of scientists from diverse disciplines: genetics, molecular biology, epidemiology, engineering, computer science and others. They are working together to find the unknown causes of premature birth and how to prevent it.

“The innovative, team-based model of the March of Dimes Prematurity Research Centers is critical to understanding the unknown causes of preterm birth. This new finding adds one small piece toward solving the much larger puzzle of preventing and treating preterm birth,” says Dr. Muglia.

In addition to the Ohio Collaborative, the March of Dimes has established four other Prematurity Research Centers nationwide: at Stanford University School of Medicine in California; University of Pennsylvania; Washington University in St. Louis; and University of Chicago-Northwestern University-Duke University.

“Systems biology evaluation of cell-free amniotic fluid transcriptome of term and preterm infants to detect fetal maturity” by Dr. Kamath-Rayne et al. was published online today by BMC Medical Genomics.