eMedicine Specialties > Neurology > Pediatric Neurology

Anencephaly: Follow-up

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

Follow-up

Deterrence/Prevention

  • The recurrence risk for NTDs, in general, is 2-4% in subsequent pregnancies, given that a couple has previously had one child with anencephaly or another isolated NTD. For families with multiple occurrences of NTDs, recurrence risks may be higher and must be determined on a case-by-case basis.
  • Folic acid supplementation has been shown to be an effective means of lowering recurrence risks for future pregnancies. For women who desire pregnancy and have had a child with an NTD with their current partner, supplementation with 4 mg of folic acid daily is indicated, beginning at least 3 months prior to conception.
    • For all other women and girls of reproductive age, regardless of family history, 0.4 mg (or 400 mcg) per day of folic acid supplementation is appropriate; this amount of folic acid is found in most over-the-counter multivitamins.
    • Folic acid supplementation at these levels is estimated to prevent two thirds of both recurrent as well as occurrent (new) cases of NTD.
    • Increased folate intake also may be achieved through the diet; however, the bioavailability of natural folates in foods is often lower than that of folic acid. In the United States, wheat flour is fortified with a small amount of folic acid, but it is not enough to achieve maximal preventive benefits against NTD for a woman with an average diet.
    • Because of the large number of pregnancies that are not actively planned, and the early gestational age at which neural tube development occurs, folate supplementation should be encouraged for all girls, beginning at puberty, in order to establish this practice before entering the childbearing years.
  • Prenatal ultrasound and amniocentesis should be offered to any couple with a prior pregnancy affected with an NTD.
  • Maternal serum prenatal screening with AFP is available throughout the United States and most developed countries for identification of NTDs. Positive serum screening should be followed with diagnostic testing to exclude the presence of NTDs. Since 90-95% of NTDs occur in families without a positive history, such screening is appropriate for all pregnant patients and should not be reserved only for those with a positive history.
  • Anencephaly cannot be treated in utero, thus, pregnancy termination is the only intervention available to prevent the birth of a child with anencephaly that has been diagnosed prenatally. Supportive care should be provided for families, irrespective of the option they choose.

Complications

  • Anencephaly is uniformly fatal.
  • Polyhydramnios is a common complication during pregnancy, and patients may experience significant discomfort from the abdominal distention that accompanies this condition.
  • Risk of preterm labor is increased.
  • Because the pituitary gland may be absent in persons with anencephaly, spontaneous precipitation of labor may be delayed; therefore, the risk of the pregnancy progressing into the postterm period is significant. Labor may need to be induced in these cases.
  • The rate of abnormal fetal presentations during delivery is increased in these pregnancies.

Prognosis

  • The prognosis is exceptionally poor; death of the neonate is unavoidable.

Patient Education

  • Parents of babies with anencephaly should be educated about preventive measures for future pregnancies.
  • Consultation with a genetic counselor may be helpful.
  • A number of resources may assist families who are dealing with the loss of a child with anencephaly. These include the Spina Bifida Association of America (SBAA) and the March of Dimes (MOD). Contact the SBAA at (800) 621-3141.
  • Families may wish to participate in one of several ongoing studies of anencephaly or NTDs as a part of the healing process.

Miscellaneous

Medicolegal Pitfalls

  • Failure to offer all patients prenatal screening for NTDs during the course of routine obstetric care
  • Failure to provide accurate counseling to patients regarding recurrence risks and options for testing and management of future pregnancies
  • Failure to discuss pregnancy management options when anencephaly is diagnosed prenatally at a gestational age at which termination is an option. Both continuation and termination of pregnancy should be mentioned. For couples considering continuation to term, outlining the consequences and complications that may occur in the later stages of pregnancy with an anencephalic fetus is essential.

Special Concerns

  • In many circumstances, parents may inquire about organ donation options in order to salvage something positive from their child's brief life. Such options can be explored within the context of a genetic counseling session. Likewise, research studies into the genetics of NTDs are ongoing in many states, and patients may seek to be included in such a study.
 


More on Anencephaly

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

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  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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