Prenatal diagnosis of craniorachischisis totalis

Abstract

Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.

Craniorachischisis in a 33-week-old Female Fetus: A Case Report

“…2 This process normally occurs between the third to fourth week of gestation and is completed after the 28 th day of conception. 2,5,6 Since this occurs early in embryogenesis, NTDs are detectable as early as 13 weeks of gestation by prenatal ultrasound and 22 weeks by magnetic resonance imaging. 6 Worldwide, the incidence of NTDs varies by region but is thought to be higher in countries with lower socio-economic status and in females.…”

“…6 In other reported cases of craniorachischisis, folic acid supplementation was not given or were started later than recommended, such as in the case reported by Costa et al and in the case presented. 5,7,11 Craniorachischisis is more commonly associated with anencephaly wherein exposed brain tissue is dissolved upon prolonged exposure to amniotic fluid, but it may also present occasionally with exencephaly. 12 However, there was no mention in the literature of whether anencephaly is primarily caused by the dissolution of brain tissue or an intrinsic developmental pathology.…”

“… 7 On the other hand, it can also be an isolated finding such as in the case reported by Costa et al, where a karyotype of fetal skin was done and was unremarkable. 5 In retrospect, karyotyping and/or genetic testing would have also been beneficial for this case to determine if other genetic syndromes or anomalies are present but was not performed.…”

Anomalies of the Mesenchyme (Meninges and Skull)—Defects of Neural Tube Closure: Cephalocele and Other Calvarial and Skull Base Defects; Intracranial Lipomas; Arachnoid Cysts; Nonsyndromic and Syndromic Craniosynostoses

“…Craniorachischisis totalis stands as the most severe manifestation among NTDs. 37 38 It is characterized by anencephaly and spina bifida throughout the vertebral column accompanied by herniation of neural tissue and meninges. 39 40…”

“…Craniorachischisis totalis stands as the most severe manifestation among NTDs. 37,38 It is characterized by anencephaly and spina bifida throughout the vertebral column accompanied by herniation of neural tissue and meninges. 39,40 Craniorachischisis is generally incompatible with survival and the affected fetuses die in the early stages of pregnancy.…”