Anencephaly

Case contributed by Aws Qahtan Hamdi , 2 May 2022
Diagnosis almost certain
Changed by Aws Qahtan Hamdi, 6 May 2022

Updates to Case Attributes

Status changed from draft to pending review.
Presentation was changed:
AntenatalAn antenatal ultrasound examination during the second trimester.
Body was changed:

Anencephaly is the most severe form of cranial neural tube defect (NTD) and is characterised by an absence of cortical tissue (although the brainstem and cerebellum may be variably present) as well as the absence of the cranial vault.A number of. Many associated abnormalities are recognised like spina bifida, spinal dysraphism, diaphragmatic hernia, clefand cleft lip/palate.

If some amount of neural tissue is present, the condition is termed exencephaly.

It is usually associated with polyhydramnios like other neural tube defects.

It differdiffers from amniotic band syndrome in which the band passes through the head.

Ultrasound remains the gold standard for diagnostic imaging in pregnant women due to it'sits increased efficacy from technological advances and it'sits safety for the fetus.

Folic acid supplementation is important for women of reproductive age to prevent of neural tube defects.

  • -<p>Anencephaly is the most severe form of cranial neural tube defect (NTD) and is characterised by an absence of cortical tissue (although the brainstem and cerebellum may be variably present) as well as the absence of the cranial vault.A number of associated abnormalities are recognised like spina bifida, spinal dysraphism, diaphragmatic hernia, clef lip/palate.</p><p>If some amount of neural tissue is present, the condition is termed exencephaly.</p><p>It is usually associated with polyhydramnios like other neural tube defects.</p><p>It differ from amniotic band syndrome in which the band passes through the head.</p><p>Ultrasound remains the gold standard for diagnostic imaging in pregnant women due to it's increased efficacy from technological advances and it's safety for the fetus.</p><p>Folic acid supplementation is important for women of reproductive age to prevent of neural tube defects.</p>
  • +<p>Anencephaly is the most severe form of cranial neural tube defect (NTD) and is characterised by an absence of cortical tissue (although the brainstem and cerebellum may be variably present) as well as the absence of the cranial vault. Many associated abnormalities are recognised like spina bifida, spinal dysraphism, diaphragmatic hernia, and cleft lip/palate.</p><p>If some amount of neural tissue is present, the condition is termed exencephaly.</p><p>It is usually associated with polyhydramnios like other neural tube defects.</p><p>It differs from amniotic band syndrome in which the band passes through the head.</p><p>Ultrasound remains the gold standard for diagnostic imaging in pregnant women due to its increased efficacy from technological advances and its safety for the fetus.</p><p>Folic acid supplementation is important for women of reproductive age to prevent neural tube defects.</p>

References changed:

  • 2. Goldstein R & Filly R. Prenatal Diagnosis of Anencephaly: Spectrum of Sonographic Appearances and Distinction from the Amniotic Band Syndrome. AJR Am J Roentgenol. 1988;151(3):547-50. <a href="https://doi.org/10.2214/ajr.151.3.547">doi:10.2214/ajr.151.3.547</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/3044042">Pubmed</a>
  • 2. Edwards L, Hui L. First and second trimester screening for fetal structural anomalies. Semin Fetal Neonatal Med. 2018 Apr;23(2):102-111. -Pubmed
  • 4. Goldstein RB,Filly RA. Prenatal diagnosis of anencephaly: spectrum of sonographic appearance and distinction from the amniotic band syndrome.AJR Am J Roentgenol.1988;151547-50. Pubmed citation
  • 3. 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

Updates to Study Attributes

Findings was changed:

A​​A live fetus (21 weeks) showing an absence of calvarium, brain tissue and scalp, with a frog-like the appearance of eyes.Associated. Associated with polyhydramnios (not seeseen well in these images).No. No other associated anomalies were seen.

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