Differential Diagnosis for Fetal Anomaly
- Single most likely diagnosis
- Anencephaly: This condition is characterized by the absence of a major portion of the brain, skull, and scalp, which is consistent with the ultrasonography findings of a large defect in the calvaria and meninges, with only a small cerebellum and brainstem.
- Other Likely diagnoses
- Encephalocele: This is a neural tube defect where the brain and meninges protrude through a defect in the skull, which could be considered given the description of the calvaria and meninges defect.
- Acrania: A condition where there is a partial or complete absence of the skull, but with normal brain formation, which might be considered if the brain tissue is more preserved than in anencephaly.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Amniotic band syndrome: Although less likely, this condition involves fetal entrapment and constriction by amniotic bands, which can cause various anomalies, including cranial defects. Missing this diagnosis could lead to further complications.
- Intrauterine infection: Certain infections can cause severe fetal anomalies, including cranial defects. Identifying and managing such infections is crucial for the health of both the fetus and the mother.
- Rare diagnoses
- Cranial meningocele: A rare condition where the meninges herniate through a defect in the skull, which could be a consideration but is less common than anencephaly or encephalocele.
- Iniencephaly: A rare neural tube defect characterized by the upward curvature of the cervicothoracic spine and anencephaly, which might be considered given the severe nature of the described anomalies.