Published online May 1, 2006
PEDIATRICS Vol. 117 No. 5 May 2006, pp. 1869 (doi:10.1542/peds.2006-0158)

This Article Extract Full Text (PDF) Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Pivalizza, P. J. Search for Related Content PubMed Articles by Pivalizza, P. J. Related Collections Office Practice Related AAP Red Book topics: Escherichia coli and Other Gram... Social Bookmarking                         What's this?

Research for Newborn Screening: Developing a National Framework

Penelope J. Pivalizza, MD, MPH, FAAP
Center for Developmental Pediatrics
Texas Children's Hospital
Baylor College of Medicine
Houston, TX 77030

To the Editor.

I respond with interest to Botkin's timely, well-presented, and pertinent discussion and call for additional sophisticated research and collaboration to address national newborn screening program issues.¹

Having researched the complexity of galactosemia screening and its cost-effectiveness in my state,² I add the following comments to the current debate:

• Galactosemia is a serious disorder with significant mortality/morbidity should its diagnosis be missed, with mortality understood to be preventable by newborn screening.
  
• Complicating research and the diagnostic approach are many constraints including impaired access to health care (including difficulties for rural residents), systematic diagnostic variables, and the clinical complexity of differential diagnosis of this rare condition, which frequently lacks pathognomic features. This challenge in clinical diagnosis has facilitated newborn screening application.
  
• Galactosemic eaths among unscreened infants may be erroneously underassessed, possibly ascribed to sepsis such as Escherichia coli, which complicates comparison to screened populations.
  
• Even with screening and good health care, most diagnoses of symptomatic infants are still made by a screening test.³
  
• Potential cost-savings of a newborn screen-generated diagnosis before 2 weeks of age requires comprehensive cost/benefit analysis. Considerable extended hospitalization, multispecialty evaluation, and investigation costs may be generated before mean clinical pathway diagnosis after 2 months.
  
• Potential constraints of proposed selected infant galactosemia screening⁴ have not been examined (eg, potential morbidity and mortality by delayed positive screening test results in a condition for which earliest possible test reporting is advocated to prevent death). In my recent thesis² examining galactosemia newborn screening and its cost-effectiveness in Texas, the earliest infant death occurred at 9 days of age. The importance of earliest possible detection, diagnosis, and intervention is emphasized, with good-quality assurance for efficient reporting advisable.
  
• Constraints of comparing outcomes in screened to unscreened populations include variable compliance, health care and dietary access, and limited outcome research, frequently based on dated retrospective reports.
  

In view of these factors, I echo Botkin's call for additional research and collaboration needed to address these complex issues.

REFERENCES

1. Botkin JR. Research for newborn screening: developing a national framework. Pediatrics. 2005;116 :862 –871[Abstract/Free Full Text]
2. Pivalizza PJ. A Study of Galactosemia: Newborn Screening and Its Cost-Effectiveness in Texas [MPH thesis]. Houston, TX: University of Texas-Houston Health Science Center School of Public Health; 2001
3. Schweitzer S. Newborn mass screening for galactosemia. Eur J Pediatr. 1995:154(7 suppl 2) :S37 –S39
4. Shah V, Friedman S, Moore AM, Platt BA, Feigenbaum AS. Selective screening for neonatal galactosemia: an alternative approach. Acta Paediatr. 2001;90 :948 –949[Web of Science][Medline]

---

PEDIATRICS (ISSN 1098-4275). ©2006 by the American Academy of Pediatrics

CiteULike    Connotea    Del.icio.us    Digg    Facebook    Reddit    Technorati    Twitter    What's this?

This Article Extract Full Text (PDF) Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Pivalizza, P. J. Search for Related Content PubMed Articles by Pivalizza, P. J. Related Collections Office Practice Related AAP Red Book topics: Escherichia coli and Other Gram... Social Bookmarking                         What's this?