MRI study sheds new light on alcohol-related birth defects

August 22, 2012

A collaborative research effort by scientists at the University of North Carolina School of Medicine, Duke University, and University College of London in the UK, sheds new light on alcohol-related birth defects.

The project, led by Kathleen K. Sulik, PhD, a professor in the Department of Cell and and the Bowles Center for Alcohol Studies at UNC, could help enhance how doctors diagnose birth defects caused by alcohol exposure in the womb. The findings also illustrate how the precise timing of that exposure could determine the specific kinds of defects.

"We now know that maternal alcohol use is the leading known and preventable cause of birth defects and mental disability in the United States," Sulik said. "Alcohol's effects can cause a range of cognitive, developmental and behavioral problems that typically become evident during childhood, and last a lifetime."

(FAS) is at the severe end of (FASD). First described in 1972, FAS is recognized by a specific pattern of facial features: small eyelid openings, a smooth ridge on the upper lip (absence of a central groove, or philtrum), and a thin upper lip border.

In its full-blown state, FAS affects roughly 1 in 750 in the U.S. And while clinicians typically look for those classical facial features in making a diagnosis, within the broader classification of FASD "adverse outcomes vary considerably and most individuals don't exhibit the facial characteristics that currently define FAS," said the study's lead author Robert J. Lipinski, PhD, a postdoctoral scientist in Sulik's lab. "This study could expand the base of diagnostic criteria used by clinicians who suspect problems caused by maternal alcohol use."

In their animal-based studies, the Sulik lab team has collaborated with co-author G. Allan Johnson, PhD and his group at Duke University's Center for In Vivo Microscopy. Johnson, professor of radiology and physics, has developed new imaging tools with spatial resolution up to a million times higher than clinical magnetic resonance imaging (MRI). These include small bore tools suitable for imaging fetal mice that are only 15 mm long.

To quantify facial shape from MRI data, the study team turned to co-author Peter Hammond, a professor of computational biology at UCL's Institute of Child Health, in London. Hammond invented powerful new techniques for 3D shape analysis that have already proven successful in objectively defining facial shape changes in humans.

In the study, described in the August 22, 2012 issue of the online journal PLOS ONE, Lipinski and Sulik treated one group of mice with alcohol on their seventh day of pregnancy, a time corresponding to the third week of pregnancy in humans. A second group of mice was treated just 36 hours later, approximating the fourth week of human pregnancy. The amount of alcohol given was large, "high doses that most women wouldn't achieve unless they were alcoholic and had a tolerance for alcohol," Sulik said.

Near the end of pregnancy, the fetuses were then imaged at Duke University. These 3D data sets showed individual brain regions, as well as accurate and detailed facial surfaces, from which Hammond and research assistant and co-author Michael Suttie performed shape analyses.

The team found that the earlier alcohol exposure time elicited the classic FAS facial features, including characteristic abnormalities of the upper lip and eyes. What they observed in fetuses exposed just 36 hours later, however, was a surprise. These mice exhibited unique and in some cases opposing facial patterns, such as shortened upper lip, a present philtrum, and the brain, instead of appearing too narrow in the front, appeared wide.

"Overall, the results of our studies show that alcohol can cause more than one pattern of , and that the type and extent of brain abnormalities—which are the most devastating manifestation of prenatal —in some cases may be predicted by specific ," Sulik said. "And, importantly, can cause tremendously devastating and permanent damage at a time in development when most women don't recognize that they're pregnant."

Explore further: Functional neurologic abnormalities due to prenatal alcohol exposure are common

More information: Lipinski RJ, Hammond P, O'Leary-Moore SK, Ament JJ, Pecevich SJ, et al. (2012) Ethanol-Induced Face-Brain Dysmorphology Patterns Are Correlative and Exposure-Stage Dependent. PLoS ONE 7(8): e43067. doi:10.1371/journal.pone.0043067

Related Stories

Functional neurologic abnormalities due to prenatal alcohol exposure are common

July 23, 2012
Most children who are exposed to large amounts of alcohol while in the womb do not go on to develop fetal alcohol syndrome (FAS). Instead, problems that arise fall under a broader term that describes a spectrum of adverse ...

Researchers quantify the damage of alcohol by timing and exposure during pregnancy

January 16, 2012
Prenatal exposure to alcohol is associated with a spectrum of abnormalities, referred to as Fetal Alcohol Spectrum Disorders. Physical features of the more serious Fetal Alcohol Syndrome (FAS) include smooth philtrum, thin ...

Recommended for you

New approach helps rodents with spinal cord injury breathe on their own

October 17, 2017
One of the most severe consequences of spinal cord injury in the neck is losing the ability to control the diaphragm and breathe on one's own. Now, investigators show for the first time in laboratory models that two different ...

Pair of discoveries illuminate new paths to flu and anthrax treatments

October 17, 2017
Two recent studies led by biologists at the University of California San Diego have set the research groundwork for new avenues to treat influenza and anthrax poisoning.

New method to measure how drugs interact

October 17, 2017
Cancer, HIV and tuberculosis are among the many serious diseases that are frequently treated with combinations of three or more drugs, over months or even years. Developing the most effective therapies for such diseases requires ...

A new compound targets energy generation, thereby killing metastatic cells

October 17, 2017
Cancer can most often be successfully treated when confined to one organ. But a greater challenge lies in treating cancer that has metastasized, or spread, from the primary tumor throughout the patient's body. Although immunotherapy ...

Research finds that zinc binding is vital for regulating pH levels in the brain

October 17, 2017
Researchers in Oslo, Norway, have discovered that zinc binding plays an important role in the sensing and regulation of pH in the human brain. The findings come as one of the first studies that directly link zinc binding ...

Researchers find factor that delays wound healing

October 17, 2017
New research carried out at The University of Manchester has identified a bacterium—normally present on the skin that causes poor wound healing in certain conditions.

0 comments

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.