Newborn Screening Guidelines for Premature and/or Sick Newborns

The Clinical and Laboratory Standards Institute requests volunteers to serve as subcommittee members for a new voluntary consensus project. The project description and specific qualifications needed are provided below: 

NEW PROJECT:
Newborn Screening Guidelines for Premature and/or Sick Newborns

Description:
In the United States over 4 million newborns are screened for as few as 3 to over 40 disorders with the goal that early diagnosis and treatment will prevent or limit the severe adverse outcomes which occur in untreated infants presenting clinically.  Of these 4 million, approximately 500,000 (12.5%) are born prematurely (prior to 37 weeks gestation), are of low or very low birth weight, or are sick and receive special medical treatment unique to the Neonatal Intensive Care Unit population. The prematurity rate has increased nearly 14% between 1994 and 2004. Nationally, the March of Dimes (MOD), the Maternal and Child Health Bureau (MCHB), and the Association of Maternal and Child Health Professionals (AMCHP)  have made reducing this alarming rate of prematurity a priority. Treatments to help these neonates survive have evolved (e.g. surfactant therapy, transfusions, nitrous oxide, earlier hyperalimentation amino acid supplementation, ECMO, etc.) and continue to advance. These technological and medical advances result in smaller and younger newborns who are considered viable. Some of these treatments are known to affect newborn screening results. Newborn screening systems and laboratory technology have evolved as well, with the addition of hemoglobin electrophoresis for sickle cell disease, enzyme assays for biotinidase deficiency, galactosemia and cystic fibrosis, and MS/MS technology for multiple metabolic conditions and second tier DNA testing for several conditions.  It is now possible to screen for up to 50 different hemoglobin, endocrine and metabolic conditions.  Including hearing screening, the incidence of one of these conditions is 1:800 infants, far more common than ever before.

Unfortunately, NICU infants are at greater risk for missed or incomplete newborn screening (NBS) than normal newborns due to the focus on the critical activities surrounding their need for intensive care, the environment and treatments given to them and the unique genetic and biochemical  nature of the infants themselves (ref).  One, or more often, several of these factors conspire to negatively impact both the quality and validity of the screening results for many of the disorders included in newborn screening panels. This increases the chance that an affected newborn will not be detected early, with potentially catastrophic results.

This guideline will address best practice for NICU personnel, as well as primary health care providers, laboratory and follow-up personnel to provide all NICU infants with valid NBS within a reasonable amount of time. This requires consensus among NBS lab, follow-up and neonatologists, subspecialists, ethicists, families etc. The guidelines will specify when to collect initial screening specimens for NICU patients. Best practices will be identified for the varying circumstances (age/condition of neonate/treatment of neonate) with consideration for the conditions screened, for when to collect a repeat specimen to yield sufficiently reliable screening results when no pre-transfusion specimen is collected and when a post transfusion specimen is collected too soon, or results indicate an abnormality. Recommendations will be given regarding areas needing further research.

The primary goals for this project is to: 

1. Increase consistency amongst neonatal intensive care practices for newborn screening specimen collection
2. Decrease the number of premature or sick newborns requiring multiple repeat specimen collection.
3. Increase consistency amongst newborn screening follow-up systems for assuring rapid complete follow-up for all NICU patients.
4. Minimize the risk of a missed diagnosis for screened conditions.
5. Promote the need for further research on cause and effect of NICU treatments on newborn screening results for which these guidelines could not specify recommendations (e.g. infusions of fresh frozen plasma, platelets, intravenous immuno-globulins).

Specific Expertise/Work Experience Needed:

• Pediatric sub-specialists in neonatology, endocrine, metabolism, hematology and cystic fibrosis with experience and expertise in dealing with premature and sick newborns.
• National representative familiar with the wide range of practices in newborn screening programs.
• An international representative to assist with harmonization and global application of the guidelines.
• An MS/MS lab representative with extensive experience that they have sufficient #’s of NICU neonates screened to be considered expert.

The deadline to submit a nomination form, including a curriculum vitae and disclosure of interests form, is 1 May 2007. Send to Clinical and Laboratory Standards Institute, 940 West Valley Road, Suite 1400, Wayne, PA 19087.
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