The goal of this research study is to discover the genetic and environmental factors that
contribute to the cause of neural tube defects such as spina bifida and anencephaly.
Ultimately, this type of research may result in improved diagnosis, improved treatment and
Participation in the study is entirely voluntary.
Individuals who are currently pregnant and the pregnancy has been diagnosed with anencephaly
or acrania quality to participate.
1. Completing a written consent form
2. A phone conversation to collect family and medical information
3. Collection of blood samples from both parents of the pregnancy
4. Provide a fetal DNA sample (cord blood, fetal tissue or amniotic fluid)
5. Review of medical records and ultrasound images
Inclusion criteria: Current pregnancy diagnosed with anencephaly or acrania.
Exclusion criteria: Does not qualify if pregnancy has already ended and DNA sample is not
Allison Ashley-Koch, PhD
Duke University Health System
Heidi Cope, MS, CGC