Craniorachischisis totalis and omphalocele – a rare appearance of a common genetic disorder.

The genesis of neural tube defects (NTD) is poorly understood. The most prevalent types of NTDs are anence pha ly, encephalocele and spina bifida. Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The concomitant presence of omphalocele was rarely described in the literature. We report a case of a secundigravida, 38 years old, who had a history of premature birth due to cervical incompetence, BMI=30, with hypothyroidism, revealing an embryo with craniorachischisis totalis together with omphalocele, diagnosed during a first trimester ultra sound at 11 weeks of gestation. We discussed the implications of the diagnosis with the family and proceeded to pregnancy termination. Karyotyping was performed on the aborted product of conception, revealing trisomy 18. The folate level in the mother’s blood showed an above the normal level, thus the lack of folic acid could not be linked to NTD. This case highlights the importance of the first trimester ultrasound in the diagnosis of severe malformations, together with the genetic diagnostic testing of the fetus. The right diagnosis is crucial for future prenatal investigation and counseling. [ABSTRACT FROM AUTHOR]