Newborn Screening Follow-Up Services
Newborn screening (NBS) is widely recognized as a vital component of public health. The CHC aims to improve access to NBS follow-up services by overcoming barriers such as communication, distance to specialty care, and cost. The CHC meets the need in Northeast Indiana for NBS follow-up for inborn errors of metabolism (IEMs).
CHC staff (Jody Werker, Deb Jurgielewicz, Dr. Z, and Sharon Chupp) meet with collaborators at Indiana’s Newborn Screening Laboratory to ensure appropriate and prompt follow-up for infants with abnormal results.
Where we serve
Since July 2013, the CHC has collaborated with the Indiana State Department of Health (ISDH) to provide follow-up care for infants with positive findings on the Indiana newborn screen (NBS). The CHC currently provides follow-up care when an NBS is positive for inborn errors of metabolism (IEMs), Severe Combined Immunodeficiency (SCID), Spinal Muscular Atrophy (SMA), or X-linked adrenoleukodystrophy (X-ALD).
The CHC provides Newborn Screening Follow-Up for the above conditions in the following 19 Indiana counties: Adams, Allen, Daviess, Dekalb, Dubois, Elkhart, Fulton, Jay, Kosciusko, LaGrange, Marshall, Noble, Orange, Parke, St. Joseph, Steuben, Washington, wayne and Whitley.
Read more about how the CHC specifically provides care and follow-up for patients identified to have SMA through newborn screening.
Das KIND Program
We provide NBS follow-up services through the Das KIND (Knowledge & Intervention through Newborn Diagnosis) Program. Das KIND in German means ‘the child.’ The CHC’s Das KIND program provides the following services:
Rapid and direct contact from the CHC to the family upon receiving a positive screen
Education for the family and access to a 24/7 call service throughout the confirmatory testing process and after a diagnosis is made.
We build collaborative relationships with local primary care providers to impart relevant education and serve as a resource to allow for effective and efficient care of mutual patients.
Formulas for our patients with inborn errors of metabolism (IEMs).
Follow-up
The CHC offers all confirmed affected infants long-term follow-up with our clinical geneticist, physician assistant, and dietitian. Some of the IEMs on the NBS for which the CHC provides long-term care are:
Resources
Since its inception in 2013, the CHC has received over 220 positive newborn screen referrals. Of these, approximately 50% were confirmed positive and 70+ patients continue long-term NBS follow-up at the CHC.
We know that receiving a positive newborn screen is an overwhelming and challenging time for a family. A couple helpful resources to navigate the process of receiving a positive NBS result are newbornscreening.info and Baby’s First Test.
You can also learn about a family’s recent experience with receiving a positive NBS and having follow-up care at the CHC.
Hearing Screening
The CHC offers an initial hearing screen for infants who did not receive a hearing screen (due to being born at home, being born at a birthing center, or other circumstances where an out of hospital birth occurred).
The initial hearing screen is $21.00 and is available by appointment only. If a baby does not pass the initial screen, the CHC will refer the baby to a provider who can perform a diagnostic hearing evaluation. See more information about Early Hearing Detection and Intervention (EHDI) Program from the Indiana State Department of Health.
EHDI goals are mandated by state and federal law to include “1-3-6”
• All infants born in Indiana should receive a newborn hearing screening prior to one month of age
• All babies who do not pass their newborn hearing screening should receive an audiology diagnostic assessment before three months of age
• All infants identified with permanent hearing loss should be enrolled in early intervention before six months of age
• Ensure that every infant with a hearing loss has a Medical Home. According to the American Academy of Pediatrics (AAP), a medical home is an approach to providing comprehensive primary care that facilitates partnership between patients, physicians, and families. A medical home should include: patient-and family-centered partnership, community based system, transitions and value.