Anencephaly is the most severe form of cranial neural tube defect (NTD) and is characterized by an absence of cortical tissue (although the brainstem and cerebellum may be variably present) as well as an absence of the cranial vault. The morphological spectrum within anencephaly ranges from holocrania (most severe form) to merocrania (mildest form) 2.
Incidence is around 1:1000. There is a recognized female predilection with a F: M ratio of ~4:1.
In affluent nations, the diagnosis is usually made antenatally. At birth, the diagnosis is made due to obvious malformation of the cranial vault.
It results from a failure of closure of the antral end of the neural tube which is expected to occur at approximately day 24 of embryonal life.
As with many other malformations, a number of associated abnormalities are recognized:
- other neural tube defects: spina bifida (especially cervical)
- congenital heart defects
- cleft lip/palate
- diaphragmatic hernia(s)
- spinal dysraphism
- skeletal anomalies: e.g. clubfeet
- gastrointestinal abnormalities: e.g. omphalocele
- urinary tract abnormalities: hydronephrosis most common
- maternal serum alpha-fetoprotein (MSAFP) levels are highly elevated (x2.5 MoM (multiples of the median)): of all the neural tube defects, anencephaly usually gives the highest elevation in MSAFP 7
Anencephaly may be sonographically detectable as early as 11 weeks. Ultrasound can be a non-invasive, cost-effective, and fast method to detect anencephaly and has an accuracy of approximately 100% at 14 weeks. Sonographic features of anencephaly include:
- no parenchymal tissue is seen above the orbits and calvarium is absent: parts of the occipital bone and midbrain may be present
- if a small amount of neural tissue is present, it is then termed exencephaly
- this may be seen at an earlier stage
- less than expected value for crown-rump length (CRL)
- a "frog eye" or "mickey mouse" appearance may be seen when seen in the coronal plane due to absent cranial bone/brain and bulging orbits.
- may show evidence of polyhydramnios: due to impaired swallowing
Treatment and prognosis
Not surprisingly anencephaly is incompatible with life. Folic acid therapy may reduce the risk of recurrence. There is a slight risk (~2.5%) in recurrence of a neural tube defect in future pregnancies.
Anencephaly should not be confused with hydranencephaly in which the cranial vault is present and absence of cerebral tissue is due to antenatal vascular insult.
- 1. T S Mehta and D Levine "Ultrasound and MR Imaging of Fetal Neural Tube Defects" Ultrasound Clin 2 (2007) 187-201
- 2. Goldstein RB, Filly RA. Prenatal diagnosis of anencephaly: spectrum of sonographic appearances and distinction from the amniotic band syndrome. AJR Am J Roentgenol. 1988;151 (3): 547-50. AJR Am J Roentgenol (abstract) - Pubmed citation
- 3. Chatzipapas IK, Whitlow BJ, Economides DL. The 'Mickey Mouse' sign and the diagnosis of anencephaly in early pregnancy. Ultrasound Obstet Gynecol. 1999;13 (3): 196-9. doi:10.1046/j.1469-0705.1999.13030196.x - Pubmed citation
- 4. Timor-tritsch IE, Greenebaum E, Monteagudo A et-al. Exencephaly-anencephaly sequence: proof by ultrasound imaging and amniotic fluid cytology. J Matern Fetal Med. 5 (4): 182-5. doi:10.1002/(SICI)1520-6661(199607/08)5:4<182::AID-MFM4>3.0.CO;2-G - Pubmed citation
- 5. Wilkins-haug L, Freedman W. Progression of exencephaly to anencephaly in the human fetus--an ultrasound perspective. Prenat. Diagn. 1991;11 (4): 227-33. - Pubmed citation
- 6. Merz E, Bahlmann F. Ultrasound in obstetrics and gynecology. Thieme Medical Publishers. (2005) ISBN:1588901475. Read it at Google Books - Find it at Amazon
- 7. Benson CB, Bluth EI. Ultrasonography in obstetrics and gynecology, a practical approach to clinical problems. Thieme Medical Pub. (2007) ISBN:1588906124. Read it at Google Books - Find it at Amazon