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NBS Screening for Metabolic and Sickle Cell Disorders

Responsibility for performing newborn screening is assigned by Georgia law as follows:

  • "When a live birth occurs in a hospital the physician shall have a specimen of the infant's blood taken prior to the infant's discharge from the hospital."
  • "When a live birth occurs in a facility other than a licensed hospital, it shall be the responsibility of the person in charge of the facility or the person in attendance, to give written notice to the parents, guardian or other legally responsible person of the legal requirements for the newborn to be tested and to advise where testing can be obtained."  

Screening: When to Collect

State Rules & Regulations require that a newborn screening specimen be collected prior to discharge from the hospital, regardless of the child's age and regardless of feeding. In addition, the hospital administrator or a designated representative must provide written notice to the parents, guardian or legally responsible person if the infant must be tested again prior to one week of age. Discharging a newborn without collecting a specimen, even with the intent to collect it later, greatly increases the risk of missing an infant affected with one of the screened disorders.

Additionally:

  • The testing must be done in the first week of life in order to start immediate treatment and prevent the effects of the disorder.
  • If it is discovered that a screening test has not been done, a specimen should be immediately collected. . While some disorders may have begun to be expressed and some damage may have already occurred, treatment started at any time will always be beneficial to the infant. Additionally, the family should be made aware of the infant's metabolic disorder and its genetic implications, if applicable, and given appropriate counseling.
  • There are no special exceptions to collecting a specimen for breast-fed babies. Breast milk and colostrum are considered an adequate protein challenge.
  • There are no special exceptions to collecting a specimen for babies on antibiotics.
  • If the child has moved to this state from another state, it may be necessary to retest the child since not all states screen for the same disorders. Refer to http://genes-r-us.uthscsa.edu/resources/consumer/statemap.htm for other state programs. If the child is less than 6 months old and the results of the screening test from the other state cannot be obtained, or if there are clinical concerns about the possibility of a disorder, a Georgia screening test should be done.

Parents Refusal

Religious grounds are the only valid reason for refusal of newborn screening in Georgia. If a parent objects to testing based on religious grounds, a hospital official is to inform the parent of the consequences of refusal (possible infant death or retardation) and require the parent to complete a statement indicating their declination of newborn screening for religious reasons. This signed refusal should be retained in the record of the physician, midwife or individual attending the delivery.

Screening: How to Collect the Specimen?

Information can be found on the Georgia Public Health Laboratory page or by accessing the Screening: How to Collect the Specimen pdf.

Screening: Special Cases

Infants in the neonatal intensive care unit (NICU) have so many critical needs that their newborn screening test may be overlooked. It is advisable to establish a protocol to be sure that this screening is done.

Transferred Infants

In the event of transfer to another facility shortly after birth or before screening has been accomplished, the transferring facility must ensure that the next facility is aware of the need for screening. (Remember that the responsible party for screening is the one who attended the delivery of the newborn!) Hospitals transferring a sick neonate to a NICU should document in the medical record whether the first newborn screen has been collected. The receiving NICU should also note whether newborn screening has been done. If not, the neonate should have a newborn screen collected upon admission, a second screen collected again at 48-72 hours of age and a third screen at 28 days or at discharge, whichever comes first on all infants weighing <2000 grams at birth. Refer to the Clinical And Laboratory Standards Institute (CLSI) recently released new born screening for preterm, low birth weight, and sick newborns; need approved link.

Transfusions

Even small transfusions may invalidate screening test results. If a newborn is to receive a transfusion, it is critical to collect a specimen prior to the transfusion. A second sample for newborn screening should be collected one hundred twenty days after the last transfusion. Unscreened infants transfused before admission to the NICU should be screened regardless, but will need re-screening. Refer to the Clinical and Laboratory Standards Institute (CLSI) recently released newborn screening for preterm, low birth weight, and sick newborns; need approved link.

Critically ill and Premature Infants

A critically ill or premature infant should receive the first screen before seven days of age. These infants may have persistent abnormalities in newborn screening test results without actually having a metabolic disorder or hemoglobinopathy. Prematurity is associated with physiological elevation of 17-hydroxyprogesterone (17-OHP) and reduction of thyroxine (T4). Total parenteral nutrition (TPN) may cause a false positive test for several of the disorders. Additionally, a normal screen in an infant who has insufficient enteral intake does not rule out metabolic disease.

Premature babies may have to be retested several times because of immature enzyme systems or thyroid functioning. It may be necessary to monitor their progress to be certain they reach normal levels. An abnormal screening test result should be noted in the chart and if the premature/ill infant shows clinical signs consistent with the disorder, confirmatory testing should be immediately done. If the child shows no signs of the disorder, repeat screening should be done by one month of age or at discharge (whichever occurs first), or when requested by the newborn screening system. A tickler system is advised to assure appropriate follow-up.

Clinical And Laboratory Standards Institute (CLSI) recently released Newborn Screening for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. These guidelines are under review by the Georgia Newborn Screening Program for adoption into existing protocols and procedures.