Newborn Screening

Newborn screening is a public health program designed to screen infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The Tennessee Newborn screening program started in 1968 screening for PKU and now screens for over 70 conditions using a dried blood spot, for critical congenital heart disease (CCHD) using pulse oximetry, and for congenital hearing loss via hearing screening. 

Tennessee Code Annotated Title 68, Chapter 5, Part 4 requires that all infants born in the State of Tennessee receive screening for certain conditions.  A dried blood spot (DBS) is submitted to the Tennessee State Laboratory. If tests are abnormal, the Department of Health follows up with the baby’s doctor to initiate re-testing, confirmation and treatment from a specialist if necessary. Early diagnosis and treatment can make the difference between a child leading a relatively normal life or having more significant developmental delays, long-term health care needs, or even death. 

In 2008 Tennessee Code Annotated Title 68, Chapter 5, Part 9 (Claire’s Law) hearing screening became required. The newborn hearing screening program is responsible for assuring all infants born in Tennessee receive a hearing screening before discharge or prior to one month of age. Significant hearing loss is one of the most common major abnormalities present at birth, and, if undetected, will cause problems with speech, language, and cognitive development.   

In 2013 Tennessee Code Annotated Title 68, Chapter 5, Part 5 directed the state to develop a screening program for newborns using pulse oximetry to identify Critical Congenital Heart Disease. Congenital heart disease is the most common birth defect and may be detected during either the prenatal or postnatal period. Failing to detect CCHD while in the nursery may lead to serious events such as cardiogenic shock or death. Early detection of CCHD can potentially improve the prognosis and decrease the mortality and morbidity rate of affected infants.

The Genetics Advisory Committee was established in 1985 by the Tennessee State Legislature (See Tennessee Code Annotated 68-5-503).

The Genetics Advisory Committee is made up of health care professionals from genetics, endocrinology, pulmonology, hemoglobinopathy, immunology, neonatology, hematology, and cardiology across Tennessee. Their main purpose is to improve services to individuals born with genetics conditions in the state. They recommend changes in screening and follow-up protocols to assure that all babies born in Tennessee with genetic conditions are identified and given the appropriate follow-up and treatment in a timely manner.

Membership Information: By law, the committee shall be composed of one (1) representative from each regional genetic and each regional sickle cell center, at least two (2) members at large, and the chief medical officer for the state or designee. Specialists have been added as needed to advise on new conditions added to the screening panel. The Committee also has a parent representative.

The Committee is required by law to meet at least one time each year, however the Committee routinely meets three times a year.