Societe Francaise de la Mucoviscidose Journées annuelles, les 6 et 7 décembre 2007 CF Neonatal Screening in Europe Carlo Castellani Verona Cystic Fibrosis.

Slides:

Advertisements

Similar presentations

Nick Parkin Trainee Clinical Scientist Wessex Regional Genetics Laboratory Cystic Fibrosis rare mutation screen.

Advertisements

CF Case Studies Frances Bond West Midlands Regional Genetics Laboratory 15/10/08 SCOBEC & Birmingham Case Studies Training Day.

Richard A. Polin and the COMMITTEE ON FETUS AND NEWBORN Pediatrics 2012;129;1006; originally published online April 30, 2012 Management of Neonates With.

UPDATE ON CYSTIC FIBROSIS NEWBORN SCREENING IN OHIO Leora Langdon RN, CPNP Heather Workman, MS Charlotte Lemming MSW, LISW-S Robert Fink, M.D.

Genetic Testing for Cystic Fibrosis

Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St. Jean (Quebec, Canada) Daigneault J, Aubin G, Simard F, DeBraekeleer M Clinical Genetics April.

Invader/Luminex/Microarray/MLPACFTR June 30, 2011 APHL-CDC Carlos A. Saavedra-Matiz, MD Newborn Screening Program Wadsworth Center New York State Department.

The need for screening newborns for congenital Cytomegalovirus referred in the Neonatal Hearing Screening Program F.A.J. Schornagel 1, M.J. Korndewal 1,

Swapna Abhyankar, MD National Library of Medicine June 5, 2014 LOINC Committee Meeting.

Clinical Validity: Prenatal Screening for Cystic Fibrosis Sue Richards, PhD Professor, Molecular & Medical Genetics Director, DNA Diagnostic Laboratory.

Step 1. Locate the interval containing the score that separates the distribution into halves. There are 100 scores in the distribution, so the 50 th score.

Genetic Testing for Cystic Fibrosis

High-Throughput Screening Speeding Up CF Drug Discovery >10,000 Primary assays/day High-throughput screening CFTR Modulator Drug SAR based Medicinal Chemistry.

Cumulative Frequency Diagrams & Box Plots

Cystic Fibrosis: A Review for Healthcare Providers

TM Centers for Disease Control and Prevention National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention.

Implementation of the National CF Newborn Screening programme: a review of the first year of testing nationwide. Ottie O’Brien (Northern Genetics Service,

Gary Hoffman Wisconsin Newborn Screening Laboratory

Variation Among Immunoreactive Trypsinogen Concentrations, Michigan Newborn Screening, 10/2007-4/2008 Steven J. Korzeniewski, MA, MSc, Maternal & Child.

The Median of a Continuous Distribution

TEXAS NEWBORN SCREEN PRESENTED BY: SHAYNA BAUMAN & ROSA CARRANZA UNIVERSITY OF TEXAS MEDICAL BRANCH AT GALVESTON ADVANCED NEONATAL HEALTH ASSESSMENT GNRS.

New Developments in Cystic Fibrosis

Cystic Fibrosis (CF) Caroline Wetterauw & Martha Harris.

Bayesian Risk Analysis Workshop Questions Shuji Ogino, M.D., Ph.D. AMP Training and Education Committee Brigham and Women’s Hospital Dana-Farber Cancer.

EMGO Institute for Health and Care Research Quality of Care Martina Cornel, MD, PhD Improving test properties for neonatal cystic fibrosis screening in.

Detection of heterozygotes

Evidence for Autosomal Dominant Inheritance of Prostate Cancer

What to screen for and when? 18th January 2014 PACITA Lisbon

Cumulative Frequency Diagrams

Cumulative Frequency Diagrams & Box Plots

Prevention of Birth Defects

Cumulative Frequency Diagrams & Box Plots

C. P. B. van der Ploeg, M. E. van den Akker-van Marle, A. M. M

Genetic Disorders Section 5.5.

Cystic Fibrosis By James Gray 2012.

Introduction to prenatal diagnosis

Volume 154, Issue 3, Pages e18 (February 2018)

Evaluating Effects of CFTR Modulation in Cystic Fibrosis

A 10-year large-scale cystic fibrosis carrier screening in the Italian population Luigi Picci, Marilena Cameran, Oriana Marangon, Diana Marzenta, Stefano.

PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing Svetlana Rechitsky,

Box plot of subarachnoid space measurements at each gestational week of age. Box plot of subarachnoid space measurements at each gestational week of age.

Draw a cumulative frequency table.

Carlo Castellani, Kevin W

Cumulative Frequency and Quartiles.

Readthrough levels measured for the indicated cystic fibrosis transmembrane conductance regulator (CFTR) premature termination codon mutations, at basal.

Box plot of head circumference measurements at each gestational week of age. Box plot of head circumference measurements at each gestational week of age.

Samantha A. Woodruff, Marci K. Sontag, Frank J. Accurso, Ronald J

DAT Imaging in a cohort of p.A53T SNCA PD patients versus typical PD

A. Oliver, A. Mena Clinical Microbiology and Infection

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations Olaf Sommerburg, Veronika Krulisova,

Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis Juerg Barben, Corina S. Rueegg, Maja Jurca, Johannes Spalinger,

Chee Y. Ooi, Peter R. Durie Journal of Cystic Fibrosis

Baseline Characteristics of the Study Participants

Danieli Barino Salinas, Patrick R

Constructing a cumulative frequency table

High-throughput ts allele sequencing.

Phenylketonuria (PKU) is a rare genetic condition in which a baby cannot “metabolize,” or digest, an essential amino acid called phenylalanine that is.

Pedigree Analysis CHAPTER 11 P. 308.

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening Steven Keiles, Ruth Koepke, Richard.

A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis S.J. Mayell,

A survey of newborn screening for cystic fibrosis in Europe

Type 2 diabetes status for R1420H carriers and noncarriers.

The prevalence of type 2 diabetes for R1420H carriers and noncarriers in relation to BMI. Diabetes prevalence is shown in individuals stratified by their.

Giovanni Parmigiani, Donald A. Berry, Omar Aguilar

Bland–Altman comparison of functional residual capacity (FRC) measured from multiple breath wash-out following open and modified closed circuit wash-in.

Evidence for Autosomal Dominant Inheritance of Prostate Cancer

Mutations in the CFTR gene that lead to defective Cl– and other ion transport through CFTR protein channels are the underlying defect of CF CFTR gene mutations.

CF symptoms depend on residual CFTR activity

Comparison of mean Gensini scores (GS) and atherosclerotic scores (AS) according to the C282Y mutation in patients with single, double, and triple vessel.

Pedigree Analysis Chapter 11 p. 308.

Presentation transcript:

Societe Francaise de la Mucoviscidose Journées annuelles, les 6 et 7 décembre 2007 CF Neonatal Screening in Europe Carlo Castellani Verona Cystic Fibrosis Center

CF NBS duration in Europe (2004)

Screening Services (JCF :57-65)

Infants screened for PKU and CF in 2004 (ISNS data) PKU 5,886,965 CF 1,622,651 Infants screened for PKU and CF in 2007 (predicted) EUROPE PKU 6,000,000 CF 3,397,000

bIRT SWEAT TEST 2 → 8rIRT 2 MUT 14 rIRT / MUT

Protocols comparison Screening centers bIRT μg/l cutoff (range) bIRT Centile cutoff (range) rIRT μg/l cutoff (range) Mutation panel detection rate (range) -265 (60-70) --- rIRT857.5 (34-70) 99 (90-99) 36 (26-56) - MUT265 (60-70) (90-95) rIRT MUT 1470 (60-75) 99.1 ( ) 55 (40-60) 82 (54-90)

Mutation panel detection rate Median 82% lower interquartile 76.8% higher interquartile 86.3%

Protocols comparison Screening centers Years of screening (min-max) Neonates screened per year IncidenceFalse negatives per year (0.8-8) 12,500 ( ) -- rIRT85.5 (0.9-21) 29,250 ( ) 1/4450 (1/ ) 0.5 ( ) MUT24 (0-8) --- rIRT MUT * 139 (2-32) 33,000 ( ) 1/2775 (1/ ) 0.3 (0-1) * France not included

Screened Newborns 1,659,400 IRT Pos 17,223 (1.03%) Sweat Tests (24 answers) 3,111 (18.06%IRT+) CF 410 (13.17% ST 2.38%IRT+) Carriers (19 answers) 850 EUROPE: CF NBS EPIDEMIOLOGY (per year)

 F508 carrier frequency according to IRT concentrations Cumulative frequency distribution of IRT in healthy  F508 carriers ( ) and  F508 non-carriers ( O )  F508 Carrier Frequency (%) IRT (  g/L) Cumulative Frequency (%) adapted from: Lecoq I et al, Acta Pædiatr 88: , 1999.

10,000 neonates january february1998  CFTR testing 1078delT; 1609delCA; g/a; g/a; a/g; 2183aa/g; g/a; Kb; 394delTT; 457TAT>G; 541delC;621+1g/t; 711+1g/t; 711+5g/a; A559T; deltaF508; deltaI507; G542X;G551D; G85E; N1303K; Q552X; R1158X; R1162X; R117H; R334Q; R334W; R347H; R347P; R352Q; R553X; R709X; S549I; S549I; S549N; S549Ra/c; T338I; W1282X 4 CF (1/2,500) 304 carriers (1/33) 9,692 negative (residual carrier risk 1/180) 304 controls Castellani C et al Am J Med Genet A:142-4

HETEROZYGOTES VS CONTROLS NUMBER OF NEONATES HETEROZYGOTES CONTROLS Castellani C et al; Am J Med Genet A:142-4

p 0.01

Conclusions CF neonatal screening is growing in Europe CF neonatal screening strategies are heterogeneous CF birth prevalence changes considerably throughout Europe Useful a monitoring system of data and results