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

The DMPI is recruiting families in which a current pregnancy or newborn baby has been diagnosed with anencephaly. Participation in the study will in no way affect a mother or baby's health or a family's decision-making process. Participation is completely voluntary and free and does not require travel to Duke University Medical Center. Participation involves the following:

  • Speaking with the study coordinator by phone to discuss the study and complete a family medical, pregnancy and environmental history interview.
  • Providing a DNA sample from the pregnancy or newborn that has been diagnosed with anencephaly. This can be coordinated with a woman's obstetrician, genetic counselor or neonatologist in a way that is complementary to the care that the mother, pregnancy or newborn are receiving.
  • Providing blood samples for DNA research from both parents when possible.
  • Giving permission to the research team to review medical records pertaining to anencephaly.

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, Heidi Cope, via one of the following methods:

Phone: (919) 684-0655


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

Donations can be made online at  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
Now I Lay Me Down to Sleep
Anencephaly Angels on Facebook on Facebook
Baby Center Anencephaly Support Group
Forgotten Angels
A Heartbreaking Choice
Anencephaly - A Global Health Network Support Group