The goals of Newborn Screening are to identify infants at risk for disorders and, through early intervention, to prevent death, disease and disabilities associated with each disorder.
Newborn screening provides an early opportunity to detect disorders before symptoms appear. These tests are not diagnostic. Regardless of screening results, physicians are continuously reminded that they should immediately evaluate any infant who exhibits findings consistent with the targeted disorders.
Testing identifies infants at risk, and follow-up allows for early intervention. There are three situations for which follow-up is indicated:
Follow-up ensures that each infant identified with screen positive or invalid test results has been located and either evaluated appropriately or the requested repeat specimen has been submitted to the laboratory.
Regulations require that the testing laboratory provides follow-up activities. The Newborn Screening regulations are found in NYCRR Title 10, Subpart 69-1, Testing for Phenylketonuria and Other Disease and Conditions. According to the regulations the follow-up unit is responsible for the following actions:
Unsuitable specimens are those that do not meet the standards set by the laboratory for quality or quantity of blood. They are not tested. Therefore, each infant who has an unsuitable specimen has not been screened and is at risk. The hospital of birth and, if identified, the physician of record are notified of the unsuitable status and the need to resubmit a specimen as soon as possible. Follow-up begins three weeks after the initial notification if the repeat specimen has not been received in the interim.
For infants born In New York City’s five boroughs, follow-up staff call the hospital of birth for the status on the hospital’s efforts to obtain another specimen. Communication is maintained with the hospital, technical assistance is provided when necessary, and all efforts to obtain the repeat specimen are documented by the follow-up staff.
For infants born upstate, if the repeat specimen is not received within three weeks after the hospital of birth and the physician of record have been notified of the need to submit another specimen, a letter is sent to the County Health Department in which the mother resides requesting assistance in obtaining a repeat specimen. Communication is maintained with the County Health Department, technical assistance is provided when requested, and all efforts to obtain the repeat specimen are documented by the follow-up staff.
Presumptive positive specimens, also called borderline specimens, are those with slightly elevated results. In this case, another specimen is requested by the testing laboratory. A majority of these infants will test screen negative upon repeat testing, but they are considered at risk until the conditions for which the results are elevated are ruled out by a negative repeat test.
Follow-up for presumptive positive specimens is similar to that for invalid specimens. Follow-up is done through the hospital of birth in New York City and in partnership with the local health departments everywhere else. Infants whose repeat tests continue to be borderline are referred for evaluation.
Every effort is made to obtain a repeat specimen for both unsuitable specimens and for screen positive presumptive specimens. After 13 weeks, per regulation, the hospitals are required to submit documentation of all follow-up efforts within 10 working days of cessation of follow-up activity. Laboratory follow-up staff review the documentation and provide technical assistance when indicated or close the records as lost to follow-up.
Screen positive specimens are referred when the results are significantly elevated or there are multiple borderline results. The testing laboratory asks that the infant be evaluated for the disorder in question, thus entering the follow-up case management system. These infants are imminently at risk, and several classifications of referrals are considered medical emergencies.
As soon as the laboratory identifies an infant with referral level values, the results are communicated to the follow-up unit. Those results considered medical emergencies are immediately phoned to the primary care physician and/or the designated specialty care center. If a primary care physician has not been identified, a designated physician at the hospital of birth may be notified.
Specialty care centers are defined under the regulations as "a health care facility established under article 28 of the Public health Law which is approved by the department and certified by the Wadsworth Center for Laboratories and Research to provide treatment and/or services to children identified by the testing laboratory."
Specialty care centers, also called treatment centers, are grouped according to the types of disorder for which Newborn Screening tests.
The Specialty Care Center is responsible for insuring that infants referred for evaluation undergo the appropriate diagnostic work-up. Infants are seen at the centers or, in some instances, the centers can act as consultants for the primary physician and/or the hospital designees regarding diagnostic methodologies and provision of medical care.
After primary phone notification of the infant’s screening results and a request for evaluation, an official copy of results, letters and forms to be completed are mailed to the physician of record, the designee at the hospital of birth and the specialty care center. Case management continues with multiple calls and correspondence sent over time to ensure that the infant has been located, has been seen by a medical provider and the appropriate confirmatory testing has been done. This phase of follow-up, termed short-term follow-up, ends with receipt of documentation of a final diagnosis that states the infant’s status for the condition in question.
Infants who screen positive for HIV-1 antibodies are handled differently. They are referred to the physician at the hospital of birth designated to handle HIV infection. This physician is responsible for notifying the primary care provider and transferring to them a copy of the newborn’s screening results. Follow-up is done at the hospital of birth. Infants usually are sent to infectious disease clinics for evaluation and, in most cases, for confirmatory testing by a blood draw.
Newborn screening results only indicate the presence of the mother’s HIV-1 antibodies; they cannot indicate presence of the HIV-1 virus in the infant. Follow-up also includes confirmation and documentation of the mother’s prior HIV testing information. If no HIV testing information is available in the delivery setting, the hospital is required to expeditiously test the mother with her consent or, if the mother does not consent, test the infant within 12 hours after delivery. Consent is not required to test the infant.
Hospitals are responsible for filling out the Department of Health’s notification form when they have a positive result on this expedited testing and for submitting the appropriate form (Maternal – Pediatric HIV Prevention and Care Program Report on Preliminary Positive HIV Test Results) to the Newborn Screening Program. Follow-up is done by the Program to obtain any unsubmitted forms. The definitive endpoint for short-term follow-up is the receipt of documentation that the exposed infant has had confirmatory testing.
Follow-up traditionally is complicated when newborns are placed in foster care or for adoption, are transferred to another hospital, or have a different last name from the mother (specimens are submitted routinely with the mother’s last name as the infant’s last name). Migration also is a factor, as not only do people move within the same city or town, they move within the state, to other states and to other countries.
With the incorporation of new technologies, follow-up faces new challenges. The greater number of disorders screened for increases the pool of newborns requiring follow-up. Newborns with multiple disorders (e.g., screen positive for sickle cell disease and for primary congenital hypothyroidism) seem to be rising.
Also, there are increased instances where there are referral level results for one disorder and presumptive (borderline) level results for one or more disorders for the same infant. This requires case management for the referral level disorder and follow-up to ensure a repeat specimen is obtained for the presumptive level disorder(s). The screening program’s follow-up staff often acts as facilitators to ensure that coordination of care issues are addressed and resolved. As the number of disorders screened for expands, the complexity of the follow-up process increases.
In 2003, when New York State screened for 11 disorders, 19,451 infants required follow-up for a screen positive test result, either with presumptive positive or referral levels. In that same year, 3,869 newborns required follow-up for a repeat specimen because the initial specimen was invalid. Thus, 23,320 infants out of a birth population of 254,021 that year (9.2 %) entered into the follow-up process. The screening panel was expanded in 2004 to 31 disorders and will expand again in 2005.