Newborn Screening Follow-up Guidelines

Hearing Screening Follow-up

Infants who fail the initial in-hospital hearing screening should be referred for repeat testing between 2 and 8 weeks after discharge, as recommended by the American Academy of Family Physicians 1
If an infant fails the second screening, they should be referred for comprehensive audiological evaluation including diagnostic Auditory Brainstem Response (ABR) testing or other electrophysiologic testing, which can be performed as early as 3 months of age, according to the American Academy of Family Physicians 1
Visual reinforcement audiometry cannot be performed reliably before age 8 to 9 months, so earlier diagnostic methods are preferred, as stated by the American Academy of Family Physicians 1, 3

For infants with borderline or abnormal metabolic screening results, prompt referral to a specialty care center is essential for comprehensive evaluation and definitive diagnosis, as recommended by the American College of Medical Genetics and Genomics 4
Relying solely on "metabolite diagnoses" or "gray-zone" results without confirmatory testing can lead to incorrect diagnoses and inappropriate clinical management, according to the American College of Medical Genetics and Genomics 4
For conditions like cystic fibrosis using an IRT/DNA algorithm, infants with a positive screening test should be referred to a diagnostic center for a sweat chloride test, as recommended by the Centers for Disease Control and Prevention 6

Infants with risk factors for hearing loss should have ongoing developmentally appropriate hearing screening and at least one diagnostic audiology assessment by 24-30 months of age, as recommended by the American Academy of Pediatrics 2
Infants who spent time in the NICU should be screened using ABR technology, as they are at higher risk for neural hearing loss, according to the American Academy of Pediatrics 2

For CCHD screening, the American Academy of Pediatrics recommends only one retest following an indeterminate result, rather than two retests as previously recommended 7
This change shortens the time to recognition of CCHD and has minimal effect on false-positive rates, as stated by the American Academy of Pediatrics 7

Loss to follow-up is a significant challenge - studies show that 13% to 31% of infants who fail initial screening do not return for follow-up testing, according to the American Academy of Family Physicians 1, 2
False-positive results can produce significant anxiety in 3% to 14% of parents, even after follow-up testing, as reported by the American Academy of Family Physicians 1, 2
Treating borderline results as definitively diagnostic without confirmatory testing should be avoided, as recommended by the American College of Medical Genetics and Genomics 4

Universal newborn screening has reduced the mean age of identification of hearing impairment from 12-13 months to 3-6 months, according to the American Academy of Family Physicians 1, 2
Early identification allows for earlier intervention, with the mean age for hearing aid fitting reduced from 13-16 months to 5-7 months, as reported by the American Academy of Family Physicians 1, 2
Comprehensive evaluation that ends with a definitive diagnosis is warranted for each infant with abnormal screening results, as recommended by the American College of Medical Genetics and Genomics 4