Overview
Anencephaly is a severe neural tube defect characterized by the absence of major portions of the skull and brain, often incompatible with postnatal survival beyond a few days or weeks 1.Diagnosis
Prenatal diagnosis through ultrasound and often confirmed with MRI or high-resolution ultrasound 1.
Postnatal clinical features include an open skull, absence of cerebral hemispheres, and often associated anomalies like aganglionosis and lateralization defects 2.
Histological findings may reveal keratinous material with foreign body reaction and gliosis 3.Management
Palliative Care: Focus on symptom management, comfort, and support for families; includes pain control, seizure management, and addressing feeding difficulties 1.
Hospice Services: Essential for home-based care, though professionals often lack specialized perinatal bereavement training 1.
Supportive Measures: Managing cranial defect dressings, addressing uncertainty, and facilitating a peaceful death 1.Special Populations
Pregnancy: Limited guidance available for home-based palliative care post-discharge for neonates with anencephaly 1.
Pediatrics: Neonates with anencephaly often present with additional congenital anomalies such as aganglionosis and prune belly syndrome 24.Key Recommendations
Provide comprehensive palliative care services tailored to the needs of neonates with anencephaly, emphasizing symptom management and family support (Evidence: Expert opinion 1).
Ensure healthcare professionals involved in home-based hospice care receive training in perinatal bereavement to better support families (Evidence: Expert opinion 1).
Screen for and address associated congenital anomalies such as aganglionosis and prune belly syndrome in neonates diagnosed with anencephaly (Evidence: Moderate 24).References
1 Berry SN. Providing Palliative Care to Neonates With Anencephaly in the Home Setting. Journal of hospice and palliative nursing : JHPN : the official journal of the Hospice and Palliative Nurses Association 2021. link
2 Mathew A. Anencephaly-associated aganglionosis. American journal of medical genetics 1998. link1096-8628(19981228)80:5<518::aid-ajmg16>3.0.co;2-m)
3 Dickson DW, Neumann PE, Horoupian DS. Immunoreactive keratin with foreign body reaction in anencephaly. Acta neuropathologica 1985. link
4 Hodes ME, Butler MG, Keitges EA, Mirkin LD, Wills ER. Brief clinical report: prune belly syndrome in an anencephalic male. American journal of medical genetics 1983. link