Holoprosencephaly Workup

Updated: Mar 30, 2022
  • Author: Nusrat Ahsan, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Workup

Approach Considerations

Prenatal diagnosis options include karyotype analysis, microarray testing, cranial ultrasonography, and MRI. It is possible to arrive at an etiologic diagnosis of holoprosencephaly prenatally in many cases. [26, 27, 28]

As an example of prenatal diagnosis, a study by Tavano et al indicated that the middle interhemispheric fusion variant can be detected starting in the early second trimester. [107]

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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. [29, 30] Genetic testing is commercially available for the common genetic mutations. Microarray testing has revealed a high prevalence of copy number variations. [77, 108]

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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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