Iniencephaly apertus: a rare case with early first-trimester diagnosis by ultrasonography and fetoscopic correlation

Abstract

Iniencephaly (IE) is a neural tube defect (NTD) of infrequent occurrence caused by developmental arrest of neural tube formation. It is usually complemented with other congenital malformations carrying lethal prognosis. Hysteroscopy(fetoscopy) can be used as an add-on tool for confirmation of lethal malformations such as iniencephaly, along with ultrasonography in very early first trimester pregnancy. Our patient was diagnosed on ultrasonography, with a fetus possibly carrying Iniencephaly apertus variant (with encephalocele) with cardiovascular and spinal cord malformations, at 8 weeks 5 days period of gestation. The ultrasound findings suggested IE, which were confirmed by fetoscopy before termination. The objective of this case report is to reinstate the importance of early ultrasound scan in first trimester of pregnancy to diagnose and intervene timely in case of relatively rare neural tube defects with grave outcome, also delineate the role of fetoscopy (hysteroscopy) as a diagnostic and therapeutic tool.