Screening the Critically Ill and Premature Infants

Infants in the neonatal intensive care unit (NICU) have many critical needs and their newborn screening (NBS) may be overlooked. It is important to establish a protocol to prevent a missed NBS.

Either a nonphysician attending the delivery of a newborn or any physician or health care practitioner attending a newborn within the first 30 days of life after delivery shall cause the screens to be performed. When the baby is an inpatient in the hospital, the hospital shall ensure that the appropriate screens are done.

Timing of the screening: State rules require that the first newborn screening test be collected between 24 - 48 hours or before hospital discharge. However, if the baby is discharged from the hospital before 24 hours of age, the first screen should be collected prior to discharge. Discharging an infant without collecting a specimen can result in no screen being collected and possibly missing an infant with one of the conditions.

Transferred infants: The transferring facility must do the newborn screen before transfer unless the baby is so unstable that it cannot be done safely. If the screen is not done before transfer the transferring facility must ensure the receiving facility is aware of the need for screening.

Transfusion: If an infant is to receive a transfusion, a specimen should be collected prior to transfusion since even small transfusions may invalidate newborn screening results. A second specimen should be collected as usual at age one-two weeks. If the infant was not screened prior to transfusion, a third specimen should be collected three months post transfusion or at the time when red blood cells can be presumed to be of host origin.

Premature infants may have persistent abnormalities in newborn screening test results without having an abnormal condition. Prematurity may be associated with physiological elevation of 17-hydroxyprogesterone and reduction of thyroxine. Amino acids (e.g., Phenylalanine) may be elevated in infants on TPN. A premature infant with abnormal screening results should be re-screened at the time of discharge or when requested by the NBS program (whichever comes first). Physical or metabolic signs suggestive of the presence of a screened condition should prompt appropriate diagnostic testing for the suspected disorder immediately.

A second test is required at one - two weeks of age. The second newborn screening test should be collected on every infant at one to two weeks. Even the older infant who appears to be growing and developing normally may be identified with one of the conditions included in screening and if the screening was not done at two weeks, it can be done up to a year old. Although not legally mandated, infants moving to Texas who have not been screened should be tested if their screening results are not known.

Reports of screening results and notice of unsatisfactory specimens are usually mailed or faxed to the submitter within seven days of receiving the specimen. Abnormal results are also communicated to the DSHS staff to assure appropriate follow-up.