Identifying Infants with Certain Genetic Conditions
Newborn screening is a public health activity aimed at early identification of infants affected with certain genetic or metabolic
conditions. Through laboratory testing at birth, Illinois screens for several endocrine, hemoglobin and metabolic disorders. Early
diagnosis and treatment can reduce morbidity, premature death, mental retardation and other development disabilities. The list
of conditions included in the screening has greatly expanded over the years, resulting in earlier detection and prevention of
complications in many previously undetected disorders. A specimen will be collected at least 24-hours after birth. If an
abnormality is detected with the screening (i.e. elevated or positive results, or an unsatisfactory specimen) and neither the Illinois
Department of Public nor the physician are able to locate the family, then the Will County Health Department is notified. Further
attempts to reach the family will be made by a nurse, either via telephone or by an attempted home visit. The nurse can then
inform the family of the importance of a repeat screening or the need for further diagnostic testing. If there is a definitive
diagnosis, the RN can provide referrals and educational material to the family.
In addition, newborns are also screened at birth for hearing. There are many reasons why an infant might fail the first hearing
screening at the hospital, but it is important that a follow-up test be performed in order to rule-out a definite hearing loss. Early
recognition and treatment of confirmed hearing loss is essential to prevent future complications.
The Will County Health Department is notified by the Illinois Department of Public Health of infants who have failed their
Newborn Hearing Screening and need to follow-up with repeat or further testing. A nurse will attempt to contact the family either
by phone or home visit to make sure the family has all the information and referrals it needs.
Rosemary Jones, RN, BSN