Newborn Screening & Genetic Services

This page provides additional information for some of the items on the main Primary Care Providers page.

1.  Know the infant hearing screening results by the first office visit.

The results are mandated to be reported to the PCP by the birth hospital per NJAC 8:19-1.9, (a)  If hearing screening results are unknown, they can be found in the New Jersey Immunization Information System (NJIIS) under the hearing screening tab. The PCP may also request the results from the birth hospital. Results include pass, refer (did not pass), not tested and risk indicators for late onset hearing loss.

2.  Understand hearing follow-up responsibilities for infants that do not pass the hospital screening including referral to audiology.

Refer infants that do not pass a hearing screening for follow-up with a pediatric audiologist for rescreening or diagnostic audiologic evaluation. This information should be provided to parents in a professional and reassuring manner while stressing the importance of prompt and appropriate follow-up as it is the only way to know for sure if a hearing loss is present.  Providing a concise and consistent script/message to parents that conveys the importance of hearing follow-up, and ideally provide the location of the follow-up appointment, the telephone number of the audiology facility and the date and time if possible.

4.  Report any re-screening exams done in the PCP office.

Primary care physicians may perform infant hearing screenings in their offices in certain cases. There are important considerations:

• Both initial hearing screenings for babies not screened in the hospital and any outpatient rescreening of babies that did not pass initial screening should be completed before the infant is 28 days of age. See NJAC 8:19-1.3(a)
• All initial screening or outpatient rescreening results must be submitted to the NJ EHDI program via the SCH-2 form within 10 business days of the outpatient screening date. See NJAC 8:19-1.10(a)4-5
• If the infant was previously screened with ABR equipment, the rescreening must be completed with ABR equipment. See NJAC 8:19-1.10(a)2
• All hearing screenings must be completed on both ears, even if only 1 ear did not pass previously. See NJAC 8:19-1.10(a)1
• Prompt referral to an audiology practice is recommended if an infant does not pass the PCP office hearing screening.
• Infants with a NICU stays of over 5 days should not be rescreened in the PCP office and should be referred to audiology for follow-up.

5.  Have a role in reducing the number of infants that are lost to follow up.

The medical home has an important role in establishing that timely hearing follow-up and appropriate documentation happen for the infant who has not passed or did not receive newborn hearing screening.   Timely follow-up is critical for many reasons, for example to increase the opportunity for testing under natural sleep and provide adequate follow-up time if additional testing is necessary.   An infant who does not pass their newborn hearing screening is at risk for a developmental emergency.

Specific actions the medical home can take to reduce the number of infants who do not pass their newborn hearing screening and do not receive follow-up care, or follow-up care is not reported back to the NJ Department of Health, are summarized in 2 tools from the AAP:

1-3-6 Newborn Hearing Screening Checklist - This handy tool for monitoring patient status in the hearing screening, rescreening, diagnostic and early intervention process can be integrated into patient charts to facilitate monitoring and follow-up.

Reducing Loss to Follow-Up/Documentation in Newborn Hearing Screening: Guidelines for Medical Home Providers - This algorithm provides a visual decision-making platform for primary care providers.

6.  Provide on-going monitoring and surveillance of children, both those with or without a risk indicator for late onset hearing loss.

Children with risk indicators for late onset hearing loss require additional monitoring as defined by the Joint Committee on Infant Hearing (JCIH) in accordance with time intervals for follow-up. The 2007 JCIH Position Statement states that infants who have a risk factor for late onset hearing loss should have at least one comprehensive audiologic evaluation by 24- to 30- months of age. Testing should also occur any time there is parent, caregiver or professional concern regarding communication development.

3. Refer the family to New Jersey Early Intervention Services for children up to age 3

Infants with permanent hearing loss of any degree or laterality are presumptively eligible for Early Intervention in New Jersey.  Infants and children with mild to profound hearing loss who are identified in the first 6 months of life and provided with immediate and appropriate intervention have significantly better outcomes than later-identified infants and children in vocabulary development. Early Intervention (EI) professionals are trained in a variety of disciplines such as speech-language pathology, audiology, and education of children who are deaf or hard of hearing, service coordination, or early childhood special education.

4. Refer the family to parent support groups

The 2007 JCIH Position Statement recommends that parents of infants with newly diagnosed hearing loss should be offered opportunities to interact with other families who have infants or children with hearing loss as well as adults and children who are deaf or hard of hearing. This is very helpful to parents who may have little experience in understanding hearing loss and also allows opportunities for children to meet other children with hearing loss. New Jersey Statewide Parent to Parent is a statewide program that pairs parents of children with special health care needs with trained resource parents of children with similar concerns.   A New Jersey chapter of Hands & Voices is another resource for parents which provides parents a contact with other families with children with hearing loss. Other agencies have their own specific parent support programs.

5. Provide recommended follow-up when auditory canal atresia is diagnosed

Children with ear canal atresia need a diagnostic bone conduction ABR by 3 months of age. Refer to the New Jersey Pediatric Hearing Healthcare Directory for a listing of practices that perform this type of testing. Best to schedule this right away during the first month of life when the evaluation can easily be conducted under natural sleep. Consider referral to Craniofacial Center.