Iniencephaly and Holoprosencephaly: Report of a Rare Association

Abstract

The aim of this study is to discuss a rare association of iniencephaly and holoprosencephaly and to state the importance of pregnancy termination in early gestational weeks. An 18-year-old nullipara was admitted to our perinatology service with a diagnosis of neural tube defect. Based on the ultrasonographic findings of alobar holoprosencephaly and iniencephaly during a prenatal screening, termination was recommended at the 13th week of pregnancy. However, she rejected the termination and received no prenatal care until the onset of parturition. At the time of admission, she was in her 28th week of pregnancy. Her medical and family histories were unremarkable. She delivered a stillbirth female weighing 1100 gr complicated with iniencephaly. The infant’s postmortem examination showed iniencephaly associated with holoprosencephaly and cyclops. The family declined an autopsy and genetic counseling. In this case, genetics and environmental causes, including lower socioeconomic status and lack of folic acid supplementation, may be risk factors for the current disorder. In conclusion, prenatal diagnosis is possible and termination in early pregnancy should be proposed to patients with iniencephaly associated with holoprosencephaly. In addition, folic acid supplementation should be recommended to reduce the risk of contracting this disorder.