Newborn Screening | Re-assessing Business as Usual

Did you know the 2014 Newborn Screening and Genetic Testing Symposium is going on RIGHT NOW in Anaheim, California? Well, now we both know.
The Association of Public Health Laboratories (APHL) convenes the leading national forums on public health laboratory science, policy and practice. Its meetings attract laboratory scientists, federal and state health officials, and other public health decision makers from the United States and abroad.
Here’s some more information about The Association of Public Health Laboratories:   

VISION: A healthier world through quality laboratory systems.
MISSION: Shape national and global health outcomes by promoting the value and contributions of public health laboratories and continuously improving the public health laboratory system and practice.
The Association of Public Health Laboratories (APHL) is a non-profit 501(c)(3) organization representing governmental laboratories that monitor and detect public health threats, including emerging infectious disease surveillance, detection of metabolic and genetic conditions in newborns, water contamination identification and foodborne outbreak detection. APHL’s members are state, local, county and city public health laboratories, state and local environmental health laboratories, state agricultural laboratories, corporations,
individual, and student members with an interest in public health laboratory issues, and organizations that share common goals with APHL.

This is the abstract of what was presented by Dr. Patricia Fechner at Seattle Children’s Hospital, Division of Endocrinology, Seattle, WA today – please check it out – especially those of you with children with Trisomy 21. In their review of data, they reviewed several journal articles explaining the pros and cons of treating or not treating mild or compensated hypothyroidism.

Slowly but surely I think the “experts” are realizing our children deserve better: Better detection, better treatment, better early intervention. Our children’s health is worth more than “false positive” performance metrics.

The Controversy on Mild (Compensated) Congenital Hypothyroidism | The Path We Took to Resolve the Dilemma in Washington Newborn Screening  

C. Nucup-Villaruz1, P. Fechner2; 1Washington State Department of Health, Shoreline, WA, 2Seattle Children’s Hospital, Seattle, WA

OBJECTIVE:Review data of the newborn screening primary TSH values and serum thyroid studies of confirmed mild congenital hypothyroidism (CH) and false positive cases, as well as age at diagnosis and treatment of confirmed mild CH cases. Present the issues and dilemma of either confirming or ruling out the diagnosis of CH based on the serum thyroid results. Determine the appropriate TSH threshold at a certain age that merits further monitoring and follow-up. 

METHODS: Primary TSH data from confirmed CH and false positive cases in 2012 were collected and analyzed. Classification and diagnosis of CH was based on the serum TSH levels. This set of data was initially presented to the Pediatric Endocrinology Association for Research Learning (PEARL) conference on March 8, 2014 in Portland, Oregon to seek guidance from endocrinologists regarding appropriate follow-up for mild CH. A comparison of reference ranges from different diagnostic laboratories used by endocrinologists and primary care providers in Washington State was also included in the presentation. 

RESULTS/DISCUSSION: We reviewed the TSH values of confirmed mild CH cases versus false positive cases ruled out by endocrinologists and primary care providers. A snap shot demonstrated by a superimposed scatter plot showed a clear overlapping of TSH values used by endocrinologists or primary care providers to confirm or rule out the diagnosis of congenital hypothyroidism. We also reviewed several journal articles explaining the pros and cons of treating or not treating mild or compensated hypothyroidism. 

CONCLUSION: After presenting the mild CH data and further discussion, an implied consensus among pediatric endocrinologists within the Pacific Northwest region was reached during the PEARL conference in Portland, Oregon. A serum TSH level of equal to or greater than 6.0 μIU/ml drawn between 14-30 days of age would require either repeat thyroid function tests or a referral to a pediatric endocrinologist. Our referral memo has been modified to reflect this recommendation based on the consensus of pediatric endocrinologists in the Pacific Northwest region. 

Presenter: Patricia Fechner, MD, Seattle Children’s Hospital, Division of Endocrinology, Seattle, WA, Email: or

After I read it, all I could think of was – great job, Patricia! I may even have to add her to my short list of decent endocrinologists. Bravo! Hoping I will be able to attend the next one. Maybe on a “parent/patient experience panel?” You never know.

~ Mama Genius

*Keep up with the conference by following hashtag #nbsgts on Twitter October 27-30, 2014
*See all the oral abstracts here: Link to Oral Abstracts


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