Our Newborn Screening Program ensures that each newborn is tested for 28 inherited disorders and hearing problems. The goal is to help kids avoid illness, developmental delays and even death by quickly identifying problems and swiftly letting their doctors know so they can implement interventions. On any given day our newborn screening team tests from 600 to 1,500 bloodspot samples for each of the 28 disorders.
Our demographics team verifies the results and ensures that results are sent out. Our case management team follows up on about 140 potentially positive results (including hearing) each week and works with pediatricians, clinical specialists and families. The program allows hundreds of families have the opportunity for their newborn to receive the early treatment, intervention and support services that will allow them to lead normal lives.
We published new proposed rules for the program back in August, updating the fees that we charge for these services. The fee for a first specimen is $30 and we’re proposing to keep that the same. We’re proposing to change the fee for the 2nd specimen from $40 to $65. We’re still accepting comments on the proposed Rules electronically. We’ve gotten a fair number of comments asking us to add Critical Congenital Heart Defects to the panel. While that condition isn’t included in the proposed rules, we’re seriously considering adding it to the list. The procedure uses pulse oximetry (measuring oxygen levels in the blood through the skin) to identify some infants with critical structural heart defects.
Last year the CDC recommended that all newborns be screened for critical congenital heart disease using pulse oximetry. Congenital heart disease occurs in approximately eight in every 1,000 live births… and if left undetected, kids are at risk for the development of serious complications within the first few days or weeks of life. For more info, check out CDC’s latest Morbidity and Mortality or MMWR report which highlights Newborn Screening and Critical Congenital Heart Disease.
Please let us know if you’d like us to add Critical Congenital Heart Defects to the panel by commenting on-line during November.