eMedicine Specialties > Neurology > Pediatric Neurology

Anencephaly: Treatment & Medication

Author: Robert G Best, PhD, FACMG, Director, Department of Obstetrics and Gynecology, Division of Genetics, Professor, University of South Carolina School of Medicine
Coauthor(s): James Stallworth, MD, Program Director, Associate Professor, Department of Pediatrics, Palmetto Richland Memorial Hospital, University of South Carolina; Edgar O Horger III, MD, Distinguished Professor Emeritus and Chair Emeritus, Department of Obstetrics and Gynecology, University of South Carolina School of Medicine; Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Contributor Information and Disclosures

Updated: Nov 30, 2007

Treatment

Medical Care

Because anencephaly is a lethal condition, heroic measures to extend the life of the infant are contraindicated. The physician and medical care team should focus on providing a supportive environment in which the family can come to terms with the diagnosis and make preparations for their loss.

  • Families not aware of the diagnosis of anencephaly prior to birth or for whom the diagnosis is still fresh probably will need extra emotional support and possibly grief counseling. Families who have had some time to adjust to the diagnosis prior to delivery and who have had an opportunity to begin the grieving process ahead of time may seem well prepared, but they also will need adequate time to grieve and come to closure. The presence of family, friends, or clergy may be helpful in many cases.
  • Families often want to hold the baby after delivery, even if the baby is stillborn, and families wanting photographs of the baby with the family are not unusual. A cap or head covering of some sort is useful to minimize the visual impact of the malformation. Some families want to see the lesion, and this may help to dispel mental pictures, which are often worse than the actual malformations. In most cases, direct personal contact with the baby may help the parents to actualize the medical information they have been given and may help in the process of grief resolution.
  • If parents have chosen a name for the baby, they may be comforted if the doctor refers to the baby by name.
  • Feelings of guilt are normal responses of parents of a baby with serious birth defects. The involvement of genetic counselors, if available, may be particularly useful to parents in this situation because of their experience in dealing with a wide range of birth defects.
  • With timely prenatal diagnosis of this lethal disorder, the option of pregnancy termination should be presented to the couple. For couples who elect to continue the pregnancy, the possibilities of preterm labor, oligohydramnios, failure to progress, and delayed onset of labor beyond term also should be discussed.
  • Families commonly inquire about organ donation after the diagnosis of anencephaly. This cannot practically be arranged without crossing the lines of ethical care. Patients should be affirmed in their desires to see something meaningful come from the tragedy of having a pregnancy affected with anencephaly.

Consultations

Every couple with a child who has anencephaly should consult with a geneticist and/or a genetic counselor to obtain information regarding recurrence risks, prevention, screening, and diagnostic testing options for future pregnancies and to assess the family history. Ideally, a genetic counselor should be consulted prenatally and should remain involved, as needed, until the family comes to closure after the conclusion of the pregnancy. Genetic counselors are trained and are general skillful in helping a family work through the complex psychosocial issues that are commonly encountered in a new diagnosis of anencephaly.

Diet

Folic acid supplementation and/or a folate-enriched diet prior to and during future pregnancies are recommended. Obtaining enough folates from diet alone to effectively prevent recurrences in future pregnancies is extremely difficult.

Medication

Pharmaceutical interventions are not used in cases of anencephaly.

More on Anencephaly

Overview: Anencephaly
Differential Diagnoses & Workup: Anencephaly
Treatment & Medication: Anencephaly
Follow-up: Anencephaly
References
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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].

  8. Stevenson RE, Allen WP, Pai GS, et al. Decline in prevalence of neural tube defects in a high-risk region of the United States. Pediatrics. Oct 2000;106(4):677-83. [Medline].

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Further Reading

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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

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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

 
 
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