title: Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.
abstract: BACKGROUND
  In thyroid-stimulating-hormone (TSH)-based newborn congenital hypothyroidism (CH) screening programs, the optimal screening-TSH cutoff level is critical to ensuring that true cases of CH are not missed. Screening-TSH results can also be used to predict the likelihood of CH and guide appropriate clinical management. The purpose of this study is to evaluate the predictive value of various screening-TSH levels in predicting a diagnosis of CH in the Ontario Newborn Screening Program (ONSP).
  
  
  METHODS
  The initial screening and follow-up data of 444,744 full term infants born in Ontario, Canada from April 1, 2006 to March 31, 2010 were analyzed. Confirmed CH cases were based on local endocrinologists' report and initiation of thyroxine treatment.
  
  
  RESULTS
  There were a total of 541 positive screening tests (~1/822 live births) of which 296 were true positives (~1:1,500 live births). Subjects were further subdivided based on screening-TSH and positive predictive values (PPV) were calculated. Twenty four percent in the 17-19.9 mIU/L range were true positives. In the 17-30 mIU/L range, 29 % were true positives with a significantly higher PPV for those sampled after (43 %) rather than before (25 %) 28 h of age (p < 0.02). Seventy three percent of neonates with an initial screening-TSH of ≥ 30 mIU/L and 97 % of those with ≥ 40 mIU/L were later confirmed to have CH.
  
  
  CONCLUSIONS
  Infants with modestly elevated screening positive TSH levels between 17 and 19.9 mIU/L have a significant risk (24 %) of having CH. The very high frequency of true positives in term newborns with initial TSH values ≥ 30mIU/L suggests that this group should be referred directly to a pediatric endocrinologist in an effort to expedite further assessment and treatment. Screen positives with a modestly elevated TSH values (17-19.9 mIU/L) need to be examined in more detail with extended follow-up data to determine if they have transient or permanent CH.
authors.affiliation: Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada. salehd@hdh.kari.net.|Department of Pediatrics, Queen's University, Kingston, ON, Canada. salehd@hdh.kari.net.
authors.forename: David S
authors.initials: DS
authors.lastname: Saleh
authors.affiliation: Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
authors.forename: Sarah
authors.initials: S
authors.lastname: Lawrence
authors.affiliation: Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Geraghty
authors.affiliation: Department of Pediatrics, University of Western Ontario, London, ON, Canada.
authors.forename: Patricia H
authors.initials: PH
authors.lastname: Gallego
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
authors.forename: Karen
authors.initials: K
authors.lastname: McAssey
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors.forename: Diane K
authors.initials: DK
authors.lastname: Wherrett
authors.affiliation: Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada. pchakraborty@cheo.on.ca.|Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada. pchakraborty@cheo.on.ca.
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
mesh_terms: D015415:Biomarkers / Q000097:blood; D003409:Congenital Hypothyroidism / Q000097:blood / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D009864:Ontario; D011237:Predictive Value of Tests; D013972:Thyrotropin / Q000097:blood*
chemical_list: D015415:Biomarkers; D013972:Thyrotropin
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