Holoprosencephaly Workup

Updated: Sep 07, 2017
  • Author: Jay Desai, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
  • Print
Workup

Approach Considerations

Prenatal diagnosis options include karyotype, testing for known gene mutations, ultrasonography, and MRI. Microarray testing on fetal blood has also been used. It is possible to arrive at an etiologic diagnosis prenatally in most cases. [16, 17, 18]

Next:

Genetic Testing

Karyotype has been reported to be abnormal in 24-41% of cases of holoprosencephaly, with trisomy 13 being most common. [19, 20] Molecular genetic testing is commercially available for the common genetic mutations, including SHH, ZIC2, SIX3, and TGIF. Microarray testing has revealed high prevalence of genomic rearrangements. [65, 99]

Previous
Next:

MRI

A brain MRI is preferred over CT scan for classifying the type of holoprosencephaly.

Early fetal magnetic resonance image shows alobar Early fetal magnetic resonance image shows alobar holoprosencephaly. Courtesy of Dorothy I. Bulas, MD.
Previous
Next:

EEG

Electroencephalography (EEG) is indicated for suspected seizures.

Previous