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Newborn Screening: Ontario’s Expanded Screening Program. Prepared by: June C. Carroll, MD, CCFP, FCFP Sydney G. Frankfort Chair in Family Medicine Associate Professor, Department of Family Medicine Mount Sinai Hospital, University of Toronto Andrea L. Rideout, MS, CCGC, CGC
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Prepared by: June C. Carroll, MD, CCFP, FCFP
Sydney G. Frankfort Chair in Family Medicine
Associate Professor, Department of Family Medicine
Mount Sinai Hospital, University of Toronto
Andrea L. Rideout, MS, CCGC, CGC
Project Manager / Genetic Counsellor
The Genetics Education Project
Funded by:Ontario Women’s Health Council
Version: August 2007
Members of The Genetics Education Project
Ontario Newborn Screening Program: Dr. Michael Geraghty, Mireille Cloutier MSC., Christina Honeywell MSc., Sari Zelenietz MSc.
Ontario Women’s Health Council as part of its funding to The Genetics Education Project
* Health care providers must use their own clinical judgment in addition to the information presented herein. The authors assume no responsibility or liability resulting from the use of information in this presentation.
NBS: What’s changing?
*Repeat sample within 5 days has been the Ontario standard of care since 2001
Parents will ask you about NBS
= 92.6% for variants
What is CH?
inadequate thyroid hormone production
Anatomic defect in gland, IEM, iodine deficiency
MR, ↓ growth & bone maturation, neurologic problems: spasticity, gait abn, dysarthria, autistic behaviour
Thyroid hormone replacement
Diagnosis made before 13 days to prevent symptomsEndocrine Disorders: CH
Congenital Adrenal Hyperplasia (CAH)
How would you proceed?
*In cis – 2 α thal deletions on same chromosome
Source: March of Dimes
Department of Genetics
Children’s Hospital of Eastern Ontario
Room 3127, 401 Smyth Road
Ottawa, ON K1H 8L1
Judith Allanson MD FRCP FRCP(C) FCCMG FABMG
Sean Blaine MD CCFP
Mary Jane Esplen PhD RN
Sandra Farrell MD FRCPC FCCMG
Gail Graham MD FRCPC FCCMG
Jennifer MacKenzie MD FRCPC FAAP FCCMG
Wendy Meschino MD FRCPC FCCMG
Fiona Miller PhD
Ms. Joanne Miyazaki
Andrea Rideout MS CGC CCGC
Linda Spooner RN BScN
Cheryl Shuman MS CGC
Anne Summers MD FCCMG FRCPC
Sherry Taylor PhD FCCMG
Brenda Wilson BSc MB ChB MSc MRCP(UK) FFPHThe Genetics Education Project Committee