Prenatal Diagnosis of Alobar Holoprosencephaly with Cystic Hygroma

Summary 

Objective

Holoprosencephaly is a kind of brain anomaly characterized by inadequate cleavage of the prosencephalon during early embryogenesis. In addition, holoprosencephaly associated with cystic hygroma and hydrops fetalis has never been reported. In this article, we report a rare case of holoprosencephaly associated with cystic hygroma and hydrops fetalis diagnosed prenatally.

Case Report

A 28-year-old woman, gravida 2, para 0, artificial abortion 1, was referred to our antenatal clinic at 16 weeks of gestation due to fetal cystic hygroma detected by prenatal routine ultrasonography at a local hospital. In our clinic, single ventricle with fused thalami and cystic mass at the fetal neck as well as hydrops fetalis were noted by level II ultrasound. Under the impression of holoprosencephaly with cystic hygroma and hydrops fetalis, termination of pregnancy with misoprostol was undertaken. The histopathology of fetal autopsy confirmed our diagnosis and disclosed additional intracranial abnormalities.

Conclusion

Fetus with holoprosencephaly might have other associated structural abnormalities. Cystic hygroma and hydrops fetalis are rare associations. Meticulous sonographic examination to depict the associated defects are necessary in any fetus with holoprosencephaly.

Key Words:  cystic hygroma , holoprosencephaly , prenatal diagnosis

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