Dr Sarah Dyack Medical Geneticist, IWK Kim MacDonnell NBS Co-ordinator, IWK 88th Annual Dalhousie Refresher Halifax, Nova Scotia November 27, 2014 Conflicts Of Interest None to declare Objectives 1) Review the disorders on the Nova Scotia Expanded Newborn Screening panel 2) Focus on Cystic Fibrosis and Hemoglobinopathies 3) A Family Doctor and a positive Newborn Screen Maritime NBS Priorities Associated with significant morbidity or mortality Effective treatment is available Period before onset of disease during which intervention improves outcome Ethical, safe, simple and robust screening test Nova Scotia NBS Panel Amino Acid Disorders Maple Syrup Urine Disease Phenylketonuria Organic Acid Disorders Glutaric Acidemia Type 1 Isovaleric Acidemia Fatty Acid Disorders Carnitine Palmitoyl Transferase I Carnitine Palmitoyl Transferase II Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Medium Chain Acyl-CoA Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency Trifunctional Protein Deficiency Carnitine Uptake Deficiency Other Disorders Congenital Hypothyroidism Cystic Fibrosis Hemoglobinopathies –Sickle Cell Diseases Metabolic conditions Amino Acid Disorders Maple Syrup Urine Disease Phenylketonuria Fatty Acid Disorders Carnitine Palmitoyl Transferase I Carnitine Palmitoyl Transferase II Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Medium Chain Acyl-CoA Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency Trifunctional Protein Deficiency Carnitine Uptake Deficiency Organic Acid Disorders Glutaric Acidemia Type 1 Isovaleric Acidemia VLCAD Deficiency prior to NBS 9 month old with fever, reduced oral intake, vomiting Became more lethargic In ER glucose 3.8 but CSF glucose <1.1 Had multiple seizures, some more focal in nature Elevated transaminases (AST 158, ALT 198) Urinalysis: no ketones Family history Parents Acadian, not consanguineous Sister, in 1990, had hypoglycemic seizure at age 15 months with vomiting and fasting illness. Follow up testing Confirmed Very long chain acyl-coA dehydrogenase (VLCAD) deficiency Retrieved NBS blotter: Consistent with VLCAD dedficiency Molecular Testing: R419Q and IVS4+1G>A/G Outcome Intractable seizure disorder Significant developmental delay VLCAD NBS pickup Baby born at term in Truro NBS done at day 4 Seen in Medical Genetics day 7 Diagnosis confirmed as VLCAD deficiency at 8 weeks of age Outcome On low fat diet with supplemental MCT No developmental concerns Emergency protocol in place Follow Up Testing for Metabolic For PKU, common to be asked for a follow up sample The family doctor’s office will be contacted by the Admin Assistant from the Maritime Newborn Screening Program and a request will be made for a second sample. Requisitions will be faxed. Screen Positive Metabolic Family Doctor will be contacted by Newborn Screening Coordinator. Will offer to refer to Medical Genetics on your behalf. Appointment time and date will be given. Medical Genetics team may request that you assess baby to ensure baby stable. Contact information for Medical Genetics will be provided to you and the family. The Newborn Screening Coordinator will offer to contact the family. Baby usually seen or via telehealth in 1-2 working days Cystic Fibrosis Testing IRT(Immunoreactive Trypsinogen) in blood There are 2 possible initial outcomes: 1) Negative screen 2) “Follow up” required If IRT is above daily cutoff value, a repeat sample is requested from baby. Family Doctor’s office contacted by NBS admin assistant to arrange the sample. Requisitions faxed to Family doctor Cystic Fibrosis Follow Up There are 2 possible outcomes: Screen negative Screen positive If the second IRT is normal: Screen negative NBS. Baby not at increased risk to have CF If the second IRT is elevated: sample sent to DNA for mutation testing for CF 50 mutations If a mutation found: Baby is screen positive for CF Positive Newborn Screen for CF Family Doctor contacted by Newborn Screening Coordinator (Kim MacDonnell) Positive result discussed Coordinator will offer to make referrals to CF clinic, genetic counselling and sweat testing on your behalf. Coordinator will offer to contact family directly with the results of the positive screen. Coordinator available for questions from Family Doctors and family members. Positive Newborn Screen for CF Baby seen in well baby CF clinic on a Wednesday am at IWK Health Centre Sweat testing performed. If normal, family provided genetic counselling as required. If sweat test positive, diagnosis of CF made, and family and baby assessed by CF team. Genetic counselling provided. Follow up by CF team. Hemoglobinopathies Screening for sickle cell disease We pick up a variety of other hemoglobinopathies and carriers for these conditions with current methods. There are 3 possible outcomes: Screen negative Screen positive Follow up required Hemoglobinopathies Follow Up Follow up: Usually required if baby transfused prior to the screening sample being taken. Repeat is requested 3 months after last transfusion Positive Newborn Screen for Hemoglobinopathy Screen positive: increased risk to have hemoglobin variant/hemoglobinopathy The Newborn Screening Coordinator calls Family Doctor to relay the positive screen. Offers to refer to the appropriate clinic: Hematology at the IWK if disease status for treatment and monitoring or Medical Genetics if carrier status/or unknown variant for genetic counselling and family screening. Positive Newborn Screen for Congenital Hypothyroidism Endocrinologist at IWK Health Centre is notified of positive NBS for CH If patient is from Sydney, endocrinologist contacts pediatrician and coordinates plan of care Family physician is notified of positive screen for CH Family is notified either by PHCP or NBS Coordinator if PHCP not available or if they prefer Once family is aware of the positive screen the endocrinology department at the IWK Health Centre is notified by coordinator that they may contact the family with an appointment time Positive Newborn Screen for Congenital Hypothyroidism Infants are referred to the endocrinology clinic at the IWK for further work up Baby will have: Thyroid scan X-ray Blood work serum TSH and Free T4 Mom will have blood work Family will have teaching about the condition and medication administration For All Positive Newborn Screens Results are called to the primary health care provider (PHCP) listed on the NBS blotter The family will be contacted by the PHCP or by the NBS Coordinator if the PHCP is not known or is unavailable Referrals will be made on behalf of the PHCP to the necessary specialists for follow up Resources Website: www.maritimenewbornscreening.ca Disorder Fact Sheets Other information If the family doctor/office cannot be reached, the Newborn Screening Coordinator will contact the family and initiate any follow up/referrals that are required. Planning on adding Severe Combined Immunodeficiency (SCID) in near future Contact Phone Numbers For MNSP Kim MacDonnell 902-470-7560 Newborn Screening Coordinator/ Genetic Counsellor Gayle Cooper 902-470-7998 Administrative Assistant Dr. Rasoul Koupaei 902-470-3814 Biochemist\ Clinicians in Medical Genetics, Endocrinology and CF will be happy to answer any clinical questions 902 470 8888.
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