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Ending an 8 Year Odyssey: Delivering a Diagnosis in 20 Days
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"Ending an 8 Year Odyssey: Delivering a Diagnosis in 20 Days"

This case study describes a couple who experienced three pregnancies in which the fetuses had severe skeletal abnormalities incompatible with survival.

After eight years in which specialist laboratories could not identify a molecular cause for these abnormalities, a sample from the third pregnancy was sent to Congenica for whole-exome sequencing and the likely cause was identified in 20 days. 


Offered Free by: Congenica
See All Resources from: Congenica

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