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To the Editor:
The recently published practice parameter for the evaluation of the child with microcephaly lays a foundation for achieving best clinical practice through the principles of evidence-based medicine.1 The guideline by Ashwal et al. recommends a diagnostic approach of “targeted and specific genetic testing” in the evaluation of the child with microcephaly to determine a specific genetic etiology. However, the guideline failed to adequately reference the current clinical application of high-resolution genome-wide array-based comparative genomic hybridization (aCGH).
With the latest development of these aCGH techniques, “targeted and specific” genetic tests have many disadvantages because such tests may only confirm certain clearly recognizable microdeletion syndromes. Furthermore, they may miss sporadic pathogenic DNA copy-number changes in many primary neurodevelopmental disorders, including those with microcephaly. The majority of patients with primary microcephaly, especially those with cerebral dysgenesis, multiple organ anomalies, or dysmorphic facial features, have unrecognizable syndromes—even to the most experienced clinicians.
Current information indicates that low resolution targeted bacterial artificial chromosome (BAC) array can still detect genomic abnormalities in an additional 6% of patients with …
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