Abstract

ABSTRACT Our aim was to report the unusual case of an anencephalic fetus that was born with the umbilical cord attached to its cephalic pole. The patient was a 16-year-old pregnant woman. Ultrasound evaluation at 17 weeks revealed a single fetus without cranial vault and brain parenchyma, compatible with anencephaly. Postnatal evaluation, through an autopsy, was consistent with this diagnosis. Moreover, it was observed that the umbilical cord was attached to the area cerebrovasculosa and there was the presence of a fibrous tissue, suggestive of an amniotic band. We have found only one similar case described in the literature.

Highlights

  • Is considered one of the most common and severe congenital malformations of the central nervous system[1]

  • Our aim was to report the unusual case of an anencephalic fetus that was born with the umbilical cord attached to its cephalic pole

  • Several genes are related to neural tube closure, most of which are associated with folic acid metabolism, such as the 5,10-methylenetetrahydrofolate reductase gene (MTHFR)

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Summary

Introduction

Is considered one of the most common and severe congenital malformations of the central nervous system[1]. It is characterized by a congenital absence of most of the brain, skull and scalp due to a failure in the closure of the cephalic neural tube. This failure occurs at around four weeks of gestational age[1, 2]. Several genes are related to neural tube closure, most of which are associated with folic acid metabolism, such as the 5,10-methylenetetrahydrofolate reductase gene (MTHFR).

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