Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
Faheem MalamTaila HartleyMeredith K GillespieChristine M ArmourErika BariciakGail E GrahamSarah M NikkelJulie RicherSarah L SawyerKym M BoycottDavid A DymentPublished in: American journal of medical genetics. Part A (2017)
Genetic disease and congenital anomalies continue to be a leading cause of neonate mortality and morbidity. A genetic diagnosis in the neonatal intensive care unit (NICU) can be a challenge given the associated genetic heterogeneity and early stage of a disease. We set out to evaluate the outcomes of Medical Genetics consultation in the NICU in terms of cytogenetic and molecular diagnostic rates and impact on management. We retrospectively reviewed 132 charts from patients admitted to the NICU who received a Medical Genetics diagnostic evaluation over a 2 year period. Of the 132 patients reviewed, 26% (34/132) received a cytogenetic or molecular diagnosis based on the Medical Genetics diagnostic evaluation; only 10% (13/132) received a diagnosis during their admission. The additional 16% (21 patients) received their diagnosis following NICU discharge, but based on a genetic test initiated during hospital-stay. Mean time from NICU admission to confirmed diagnosis was 24 days. For those who received a genetic diagnosis, the information was considered beneficial for clinical management in all, and a direct change to medical management occurred for 12% (4/32). For those non-diagnosed infants seen in out-patient follow-up clinic, diagnoses were made in 8% (3/37). The diagnoses made post-discharge from the NICU comprised a greater number of Mendelian disorders and represent an opportunity to improve genetic care. The adoption of diagnostic tools, such as exome sequencing, used in parallel with traditional approaches will improve rate of diagnoses and will have a significant impact, in particular when the differential diagnosis is broad.
Keyphrases
- preterm infants
- healthcare
- end stage renal disease
- genome wide
- early stage
- copy number
- chronic kidney disease
- ejection fraction
- emergency department
- newly diagnosed
- palliative care
- peritoneal dialysis
- dna methylation
- primary care
- squamous cell carcinoma
- gene expression
- patient reported outcomes
- cardiovascular disease
- coronary artery disease
- pain management
- case report
- adipose tissue
- skeletal muscle
- chronic pain
- social media
- cardiovascular events
- patient reported