Brain Anomalies
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Description
Brain anomalies occur when the skull or brain develops abnormally in utero. There are a variety of conditions and disorders that are considered brain anomalies including Chiari 1 malformations, craniosynostosis, encephaloceles, arachnoid cysts, hydrocephalus, and syringomyelia. Brain anomalies vary and can range from mild to severe, but symptoms after birth may include delayed growth, pain, progressive loss of bodily function, loss of strength and movement, and cognitive weakness. In many cases the cause of brain anomalies is unknown. However, genetics, viral infection, and exposure to substances like drugs, alcohol, toxins, and certain medications can contribute to brain anomalies.
Screening and Diagnosis
Brain anomalies can often be detected via chorionic villus testing, ultrasound and a follow-up fetal MRI scan. Amniocentesis may be performed to identify an underlying cause of the anomaly. Amniocentesis tests the amniotic fluid during the second or third trimester of pregnancy and poses a 1 in 500 risk of miscarriage.
Treatment/Prognosis
Treatment for children with brain anomalies varies on the type and severity of the anomaly. For example, Craniosynostosis, one of the most common human malformations, is not a life-limiting condition and can be corrected with surgery within the first year, or in more severe cases, can be corrected by a series of surgeries throughout childhood. Surgery is a common treatment to allow the baby’s brain to grow and develop normally, but medicine is also an option to manage a child’s symptoms from some anomalies.
Medical advances are continually improving treatment options and outcomes so consulting with specialists and major children’s hospitals may be beneficial to finding the best possible care.
Palliative care programs are available to support infants and their families for parents who may not be able to pursue medical interventions for their child with a life-limiting condition. They may ask their medical team for more information about perinatal palliative care programs that are available to them.
Sources
Malloy C, Wubbenhorst MC, Lee TS. The perinatal revolution. Issues Law Med. 2019 Spring;34(1):15-41. PMID: 31179670.
Conditions We Treat | Pavilion for Women (texaschildrens.org)
Congenital Brain and Spinal Anomalies - Johns Hopkins All Children's Hospital (hopkinsallchildrens.org)
Congenital Brain Anomalies - Fetal Health Foundation
Congenital Anomalies of the Nervous System - UChicago Medicine