What Is Newborn Screening?

Following birth, an infant will undergo testing called newborn screening. Approximately 24-48 hours after birth, a blood sample is collected through a heel poke.  The sample is then sent to the state laboratory for testing. At the laboratory, several biochemical tests are performed to screen for a select number of serious, inherited metabolic conditions. If these conditions are identified and treated early, a child usually develops normally and lives a healthy life. Unfortunately, if these conditions are not recognized within a very sensitive time window, it may be too late. Once symptoms appear, they are often irreversible and lead to severe health problems or even death. With early detection, physicians and parents have the opportunity to be proactive and change a child’s life forever.

The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends screening for 32 core conditions and 26 secondary conditions as identified by the American College of Medical Genetics (ACMG). For a complete list, click here.

Newborn screening is a state-mandated program; therefore, each state individually establishes the list of screened conditions. To find out what your state screens, click here.

During the biochemical testing, different components and levels are tested within the blood specimen. Unfortunately, there are occasional false results involved within this process. Biochemical testing is often sensitive to the time of sample collection, the infant’s health condition, medications administered to the child or mother, and collection technique. In addition, many conditions have “late-onset” characteristics in which the newborn screening will not reveal abnormalities but the child may exhibit disease-related complications later in life.

If you would like to discuss Baby Genes services with your provider, please present the Baby Genes Conversation Starter pamphlet at your next visit!

Benefits of Baby Genes Supplemental Newborn Testing

Genetic Answers
While current newborn screening (NBS) tests for abnormalities metabolically, Baby Genes tests the child’s genetic make-up (DNA) for indications of these conditions. Genetic testing is a direct method to identify the presence of a harmful mutation that may cause the manifestation of a particular condition. Genetic information may also aid in the identification of a "late onset" condition that may manifest later in a child's life.
Rapid Results
DNA is the genetic “blue print” for the human body. Because it is unlikely to change during the first days of life, it is a very reliable testing source. Baby Genes results are not affected by the child’s age, health condition, or treatment plan; therefore the specimen can be collected immediately following birth for infants of all health conditions. After overnight shipment to the laboratory, results will be reported within 96 hours.
Reliable in the NICU
Premature or sick infants in the neonatal intensive care unit (NICU) are often susceptible to unreliable NBS results. False results are common with newborns in the NICU due to their unstable metabolic state or medications administered. By testing the DNA (genetic make-up) of the child, Baby Genes Supplemental testing can provide accurate results in a rapid manner. These results may shorten the child’s NICU stay or quicken the overall diagnostic process.
All Inclusive Testing
Baby Genes Newborn Panel includes the testing of 99 genes clinically linked to 71 conditions. The panel includes the ACMG recommended core and secondary conditions, along with additional conditions that have been nominated for inclusion. All 99 genes are included within the testing, making it an all-inclusive method of newborn screening.
Rapid Confirmatory Testing
Baby Genes Supplemental Testing can provide rapid confirmation of abnormal metabolic results. It may also aid in the verification of false results that would have otherwise required extensive follow-up testing. To learn more about follow-up testing please click here.
Great Combination
Obtaining metabolic and genetic results within the first days of life enables rapid diagnosis of conditions. With early diagnosis, treatment can be initiated to provide the best care for the newborn. The combination of the two testing methods can quickly confirm metabolic results that may otherwise require lengthy follow-up testing.

Included Genes and Conditions Learn More About The Process  Ordering a Test