No abstract

Although 82% of addresses were within 30 miles of the nearest pediatric genetic clinic, 14% lived 31-100 miles from the nearest facility, and 4% of case families would need to drive more than 100 miles, including some who live in midsized cities, indicating geographic disparities in access to these necessary services.

No abstract

Critical congenital heart disease (CCHD) is a leading cause of death in infants. Newborn screening (NBS) by pulse oximetry allows early identification of CCHD in asymptomatic newborns. To improve readiness of hospital neonatal birthing facilities for mandatory screening in Texas, an educational and quality improvement (QI) project was piloted to identify an implementation strategy for CCHD NBS in a range of birthing hospitals. Thirteen Texas hospitals implemented standardized CCHD screening by pulse oximetry. An educational program was devised and a tool kit was created to facilitate education and implementation. Newborn nursery nurses' knowledge was assessed using a pre- and posttest instrument. The nurses' knowledge assessment improved from 71 to 92.5% ( < 0.0001). Of 11,322 asymptomatic newborns screened after 24 hours of age, 11 had a positive screen, with 1 confirmed case of CCHD. Pulse oximetry CCHD NBS had sensitivity of 100%, specificity of 99.91%, false-positive rate of 0.088%, positive predictive value of 9.09%, and negative predictive value of 100%. Our educational program, including a tool kit, QI processes, and standardized pulse oximetry CCHD NBS, is applicable for a range of hospital birthing facilities and may facilitate wide-scale implementation, thereby improving newborn health.

Systematic tracking of clinical genetic services for newborns identified by newborn screening programs is desirable and manageable. Recent national guidelines recommend tracking genetic counseling in newborn screening follow-up. The communications processes that state programs currently use to obtain follow-up reports from subspecialists could be augmented with clinical genetic service questions. Programs should be encouraged and supported in the efforts to track genetic services for the benefit of newborns and their families.