Holoprosencephaly Workup

Updated: Nov 10, 2017
  • Author: Nusrat Ahsan, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Workup

Approach Considerations

Prenatal diagnosis options include karyotype analysis, microarray testing, ultrasonography, and MRI. It is possible to arrive at an etiologic diagnosis prenatally in many cases. [16, 17, 18]

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Genetic Testing

Karyotype has been reported to be abnormal in about a third of cases of holoprosencephaly, with trisomy 13 being the most common karyotype anomaly. [19, 20] Genetic testing is commercially available for the common genetic mutations. Microarray testing has revealed a high prevalence of copy number variations. [66, 101]

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MRI

A brain MRI is preferred over a computed tomography (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.
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EEG

Electroencephalography (EEG) is indicated for suspected seizures.

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