Prenatal diagnosis of holoprosencephaly

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):206-213. doi: 10.1002/ajmg.c.31618. Epub 2018 May 17.


Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Here, we report on the prenatal diagnosis of holoprosencephaly using MRI as part of a diagnostic and management evaluation at a tertiary and quaternary referral center. Using an advanced MRI protocol and a 1.5-Tesla magnet, we show radiographic data diagnostic for the holoprosencephaly spectrum, including alobar, semilobar, lobar, middle interhemispheric, and septopreoptic variant. Accurate prenatal evaluation is important because the severity of imaging findings correlates with postnatal morbidity and mortality in holoprosencephaly. Therefore, this work has implications for the evaluation, diagnosis, management, and genetic counseling that families can receive during a pregnancy.

Keywords: birth defects; congenital defects; fetal MRI; fetal imaging; holoprosencephaly; prenatal diagnosis.

Publication types

  • Review

MeSH terms

  • Anencephaly / diagnostic imaging
  • Brain / diagnostic imaging
  • Brain / embryology
  • Female
  • Holoprosencephaly / diagnostic imaging*
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Ultrasonography, Prenatal