Anencephaly: Differential Diagnoses & Workup

References

1. Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M. Mutations in VANGL1 associated with neural-tube defects. N Engl J Med. Apr 5 2007;356(14):1432-7. [Medline].

2. Missmer SA, Suarez L, Felkner M, Wang E, Merrill AH Jr, Rothman KJ. Exposure to fumonisins and the occurrence of neural tube defects along the Texas-Mexico border. Environ Health Perspect. Feb 2006;114(2):237-41. [Medline].

3. Berry RJ, Li Z, Erickson JD, et al. Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med. Nov 11 1999;341(20):1485-90. [Medline].

4. Botto LD, Moore CA, Khoury MJ, Erickson JD. Neural-tube defects. N Engl J Med. Nov 11 1999;341(20):1509-19. [Medline].

5. Brent RL, Oakley GP, Md J. The unnecessary epidemic of folic acid-preventable spina bifida and anencephaly. Pediatrics. Oct 2000;106(4):825-7. [Medline].

6. Campbell LR, Dayton DH, Sohal GS. Neural tube defects: a review of human and animal studies on the etiology of neural tube defects. Teratology. Oct 1986;34(2):171-87. [Medline].

7. Philipp T, Philipp K, Reiner A, et al. Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies. Hum Reprod. Aug 2003;18(8):1724-32. [Medline].

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Further Reading

Keywords

neural tube defect, NTD, neural tube defect spectrum, absent cerebellum, absent cerebrum, brain malformation, elevated maternal serum alpha-fetoprotein level, genetic defect, folic acid, failure of neural tube closure, developmental defect, folate metabolism, folic acid supplementation, fortification of wheat flour, stillbirth, neonatal death, early pregnancy loss, spontaneous abortion, fetal loss, termination of pregnancy

Contributor Information and Disclosures

Author

Robert G Best, PhD, FACMG, Director, Department of Obstetrics and Gynecology, Division of Genetics, Professor, University of South Carolina School of Medicine
Robert G Best, PhD, FACMG is a member of the following medical societies: American Academy of Nanomedicine, American College of Medical Genetics, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Coauthor(s)

James Stallworth, MD, Program Director, Associate Professor, Department of Pediatrics, Palmetto Richland Memorial Hospital, University of South Carolina
James Stallworth, MD is a member of the following medical societies: Alpha Omega Alpha, Ambulatory Pediatric Association, American Academy of Pediatrics, Phi Beta Kappa, Society for Adolescent Medicine, and South Carolina Medical Association
Disclosure: Nothing to disclose.

Edgar O Horger III, MD, Distinguished Professor Emeritus and Chair Emeritus, Department of Obstetrics and Gynecology, University of South Carolina School of Medicine
Edgar O Horger III, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Obstetricians and Gynecologists, American Gynecological and Obstetrical Society, American Institute of Ultrasound in Medicine, American Medical Association, Association of Professors of Gynecology and Obstetrics, and South Carolina Medical Association
Disclosure: Nothing to disclose.

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

Medical Editor

Beth A Pletcher, MD, Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey
Beth A Pletcher, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Helmi L Lutsep, MD, Associate Professor, Department of Neurology, Oregon Health and Science University; Associate Director, Oregon Stroke Center
Helmi L Lutsep, MD is a member of the following medical societies: American Academy of Neurology and American Stroke Association
Disclosure: Co-Axia Consulting fee Review panel membership; Talecris Consulting fee Review panel membership; AGA Medical Consulting fee Review panel membership; Boehringer Ingelheim Honoraria Speaking and teaching; Boston Scientific Honoraria Speaking and teaching