Anencephaly

What is Anencephaly?

Anencephaly is one of the most severe types of neural tube defects (NTDs). The neural tube is the developing structure that becomes the brain, skull and spine. NTDs in general are one of the most common birth defects, occurring in approximately 1 in 1,000 live births in the United States. Anencephaly occurs when the top, or cephalic portion, of the neural tube does not close properly during fetal development. This results in a partial or complete absence of the brain and skull. If carried to term, babies with anencephaly typically die during delivery or shortly thereafter. Currently, there is no cure or treatment for anencephaly and the cause is not known. It is strongly suspected that anencephaly and other NTDs are due to a combination of multiple genetic and environmental factors.

DMPI Research on Anencephaly and other NTDs

The Duke Molecular Physiology Institute (DMPI), formerly the Duke Center for Human Genetics, is currently conducting a genetic study called "The Hereditary Basis of Neural Tube Defects" to determine the causes of anencephaly and other NTDs. By studying families with anencephaly and other NTDs, we hope to identify the genes that contribute to the development of the neural tube. We hope this research will eventually lead to more accurate genetic counseling and risk assessment, improved treatments, better prevention methods, and possibly, a cure.

Study Participation Details

This study is no longer enrolling new participants. Research continues utilizing the samples and data collected from the large number of previously enrolled participants. Thank you to all the families who have participated over the years. Research toward a better understanding of the causes of neural tube defects would not be possible without your help.

How to Contact the Duke Research Staff

If you are interested in learning more about this anencephaly research or in participating, please contact the study coordinator via one of the following methods:

Phone: (919) 684-1805 
E-mail: chg_ntd@dm.duke.edu

Donations

Yes, we accept donations to help with the research and truly appreciate every penny!

Donations can be made online at www.giftrecords.duke.edu.  Click on “Make a Gift Now” and then “Make a Credit Card Gift.”  Enter amount and then click “Or choose an area” at the bottom.  Click on “Still can’t find your designation of choice” and type 3912359 into “Which area of Duke would you like to support?”  There is also a field for donors to dedicate the gift.

Or checks can be mailed to:
Duke University Medical Center
NTD Research Fund
300 N. Duke Street
Durham, NC 27701

Additional Resources

Dr. Ashely-Koch interview about a cluster of babies born with neural tube defects in Washington State.

Centers for Disease Control National Center on Birth Defects and Developmental Disabilities

Anencephaly Information Page: National Institute of Neurological Disorders and Stroke (NINDS)

The following resources are family-based support links or chat rooms. These sites have been forwarded to us by various families who found one or more of them to be helpful.

Please note that the staff at the DMPI has not evaluated these sites or groups for accuracy or quality of information. Secondly, these sites do not reflect any personal opinions or suggestions of the staff at Duke.

We do suggest that you forward any questions about medical content to your health care provider.
Anencephaly Net
The Miss Foundation
Anencephaly Support
Anencephaly Blessings from Above - ABFA
A Heartbreaking Choice Yahoo Group
Anencephaly.info
Benotafraid.net
Now I Lay Me Down to Sleep
Anencephaly Angels on Facebook
Anencephaly.info on Facebook
Baby Center Anencephaly Support Group
Forgotten Angels
A Heartbreaking Choice
Anencephaly - A Global Health Network Support Group