Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features

In conclusion, our case illustrated that CS should be considered in ELBW infants showing a life-threatening combination of complex cardiac arrhythmia and hypokinesia. If a syndromic disorder is suspected in the neonatal intensive care unit (NICU) setting, WES is a useful, non-invasive diagnostic tool in critically ill ELBW infants.
Source: Molecular and Cellular Probes - Category: Molecular Biology Source Type: research