Short answer · Medically reviewed summary · Last updated: 2026-05-08
Anencephaly is a serious neural tube defect that occurs during early fetal development, meaning it is not a condition an adult can develop or self-diagnose in themselves. Because anencephaly involves the absence of major portions of the brain and skull, it is identified exclusively through prenatal ultrasound screenings or physical examination at birth. What is anencephaly and how is it identified? Anencephaly is a rare congenital condition resulting from the neural tube failing to close properly during the first few weeks of pregnancy.
How do I know if I have Anencephaly?
Could you have Anencephaly? Early signs that prompted real patients to seek diagnosis, plus medically reviewed guidance.
Anencephaly is a serious neural tube defect that occurs during early fetal development, meaning it is not a condition an adult can develop or self-diagnose in themselves. Because anencephaly involves the absence of major portions of the brain and skull, it is identified exclusively through prenatal ultrasound screenings or physical examination at birth.
What is anencephaly and how is it identified?
Anencephaly is a rare congenital condition resulting from the neural tube failing to close properly during the first few weeks of pregnancy. It is not a condition that affects adults; rather, it is diagnosed during gestation. If you are pregnant and concerned about the development of your baby, it is important to know that anencephaly is typically detected through routine prenatal care, specifically during mid-pregnancy anatomy scans.
What are the signs of anencephaly during pregnancy?
There are no physical symptoms that a pregnant individual would feel that definitively indicate anencephaly. Instead, medical professionals look for specific markers during prenatal check-ups:
- Elevated Alpha-fetoprotein (AFP): A blood test often performed between 15 and 20 weeks of pregnancy may show high levels of AFP, which can signal a neural tube defect.
- Prenatal Ultrasound: This is the gold standard for diagnosis, allowing doctors to visualize the development of the fetal skull and brain.
- Amniotic Fluid Levels: Sometimes, issues with fluid volume can prompt further investigation by a specialist.
When should I talk to my doctor?
If you are pregnant or planning a pregnancy, you should discuss your family history and prenatal screening options with your OB-GYN. If you have previously been affected by a pregnancy involving anencephaly, your doctor may recommend genetic counseling and higher doses of folic acid, which is known to significantly reduce the risk of neural tube defects. Always advocate for your peace of mind by asking for a comprehensive anatomy scan and clear explanations of your screening results.
Next steps
- Schedule an appointment with an OB-GYN or a Maternal-Fetal Medicine (MFM) specialist for routine prenatal screenings.
- Speak with a genetic counselor if you have a family history of birth defects.
- Join the 31 members on DiseaseMaps.org who have shared their experiences with anencephaly to find a supportive community.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Anencephaly
- Orphanet: Neural tube defect (Anencephaly)
- Centers for Disease Control and Prevention (CDC): Facts about Anencephaly
