Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.

PURPOSE: Neonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES. METHODS: The clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed. RESULTS: Clinical DES identified potentially relevant findings in 25 patients (37.9%). The majority of patients had structural anomalies such as birth defects, dysmorphic features, cardiac, craniofacial, and skeletal defects. The average time for clinical rapid testing was 8 days. CONCLUSION: Our observations demonstrate the utility of family-based exome sequencing in neonatal patients, including familial cosegregation analysis and comprehensive medical review.

The use of newborn screening pulse oximetry to detect cyanotic congenital heart disease: a survey of current practice at Army, Navy, and Air Force hospitals.

OBJECTIVE: To determine the prevalence of newborn screening pulse oximetry (+POx) among military hospitals, including barriers to instituting protocols. METHODS: An internet-based questionnaire was forwarded to the senior pediatricians at military hospitals worldwide supporting newborn deliveries. RESULTS: Forty seven of 53 hospitals (88%) supporting deliveries responded to the survey. Thirty percent of hospitals utilize a +POx protocol. Eight centers cited no problems with implementation. All hospitals screened at > or = 24 hours of life. The site of recording, positive values, and follow-up for positive screens varied. Cardiology consult and echocardiogram were not mandated. Most hospitals (34/47) are unable to obtain a pediatric cardiology consult without transfer. Few hospitals (9/47) utilize a telemedicine system. Seventy-five percent (24/32) of hospitals not utilizing a protocol are interested in instituting one. CONCLUSION: Though slightly less than one-third of military hospitals use a +POx, there is a greater interest in its use. More reliable consultative services and a robust telemedicine system may aid its implementation.