Screening Newborn Blood Spots for 22q11.2 Deletion Syndrome Using Multiplex Droplet Digital PCR.

[22q11.2 deletion syndrome]

The diagnosis of 22 q 11 deletion syndrome (22 q 11 DS ) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe , often life-threatening conditions . A delayed diagnosis can lead to life-long health issues that could be ameliorated with early intervention and treatment . Owing to the high impact of 22 q 11 DS on public health , propositions have been made to include 22 q 11 DS in newborn screening panels ; however , the method of choice for detecting 22 q 11 DS , fluorescent in situ hybridization , requires specialized equipment and is cumbersome for most laboratories to implement as part of their routine screening . We sought to develop a new genetic screen for 22 q 11 DS that is rapid , cost-effective , and easily used by laboratories currently performing newborn screening .We evaluated the accuracy of multiplex droplet digital PCR (ddPCR ) in the detection of copy number of 22 q 11 DS by screening samples from 26 patients with 22 q 11 DS blindly intermixed with 1096 blood spot cards from the general population (total n = 1122 ).Multiplex ddPCR correctly identified all 22 q 11 DS samples and distinguished between 1 .5 - and 3 -Mb deletions , suggesting the approach is sensitive and specific for the detection of 22 q 11 DS .These data demonstrate the utility of multiplex ddPCR for large -scale population-based studies that screen for 22 q 11 DS . The use of samples from blood spot cards suggests that this approach has promise for newborn screening of 22 q 11 DS , and potentially for other microdeletion syndromes , for which early detection can positively impact clinical outcome for those affected .

Diseases
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Diseases presenting "total n" symptom

22q11.2 deletion syndrome

cystinuria

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