Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: Report of two cases

J Clin Ultrasound. 2021 Sep;49(7):765-769. doi: 10.1002/jcu.22984. Epub 2021 Feb 8.

Abstract

Holoprosencephaly ranges in severity based on the degree of anatomic abnormality. Middle interhemispheric variant of holoprosencephaly is a less common and often milder variant that has the characteristic sonographic findings of an absent cavum septum pellucidum and a single fused ventricle. This subtype may be associated with genetic conditions that have not been well-described in the literature. We present two cases of middle interhemispheric variant of holoprosencephaly diagnosed on fetal ultrasound.

Keywords: genetic testing; holoprosencephaly; middle interhemispheric variant; monosomy 18; obstetrics; ultrasound.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Holoprosencephaly* / diagnostic imaging
  • Humans
  • Pregnancy
  • Prenatal Diagnosis
  • Septo-Optic Dysplasia*
  • Ultrasonography, Prenatal