Newborn Metabolic Screening with Tandem Mass Spectrometry, MS/MS

At the time of birth, there are many neonatal screenings and tests that are performed. Ensuring and assessing the status of your infant's health is important to the hospital staff. As part of the neonatal screening, many infants undergo testing for cardiovascular complications, pulmonary complications and even metabolic disorders.

With complications in many screening programs, hospital staff and your pediatrician may want to conduct a screening for multiple disorders known as the MS/MS screening, or tandem mass spectrometry. With this screening, many metabolic disorders, in particular, can be screened with one test. Metabolic disorders that may include amino acid complications, fatty acid oxidation complications, and even organic academia, are often found with MS/MS screening. With early screening, your infant may be diagnosed with one of these conditions well before a life threatening event occurs.

As a new parent, you may be wondering how the tandem mass spectrometry test is done. From the time of birth, and up to two weeks following birth, a blood sample should be taken from your newborn. Usually, this blood sample is taken from a needle stick to the heel which can be slightly painful for your baby. The blood sample is placed on filter paper, dried, and sent to a laboratory for enzyme testing.

While not all metabolic disorders can be diagnosed with tandem mass spectrometry screening, MS/MS, there are many that can be. While the needle prick to your child's heel may be uncomfortable, it is necessary to achieve optimal testing results. If confirmed as suffering from a metabolic disorder, your pediatrician will make the recommendation to consult with a pediatric endocrinologist who may, in turn, want to repeat the tandem mass spectrometry screening.

In some medical settings, you may be asked to participate in a newborn screening program. In many cases, this simply involves the authorization to release your infant's MS/MS screening results as part of a larger clinical study on metabolic disorders. While the decision to release this information is strictly at your discretion, it is important to be mindful of the long term, public health implications your child's information may have. In many cases, this information gathered from many families, will provide for improvements in screening and testing.

Metabolic disorders and other health complications are often screened at the time of birth. For as long as two weeks following your infant's birth, there may be screenings and diagnostic studies requested that are simply part of your infant's routine health care. Tandem mass spectrometry screening is a test that is often requested no later than two weeks, post-delivery. Screening for metabolic disorders will provide for an opportunity to ensure your infant is in the best health possible.