Abstract
To estimate CFTR mutation frequencies, clinical sensitivities (proportions of carrier couples or affected fetuses detected), and birth prevalence estimates for broad racial/ethnic groups and for a panethnic U.S. population. Published sources of information were identified, corrected when appropriate, and summarized. Combining racial/ethnic-specific mutation frequencies and birth prevalence estimates allowed the computation of panethnic estimates. Two of the 25 recommended mutations do not meet the 0.1% threshold in a panethnic population set by the American College of Medical Genetics. The clinical sensitivities are estimated to be 71.9%, 51.7%, 41.6%, 88.6%, and 23.4% for non-Hispanic Caucasians, Hispanic Caucasian, African American, Ashkenazi Jewish Caucasian, and Asian American couples, respectively. Birth prevalence estimates are 1:2,500, 1:13,500, 1:15,100, 1:2,270, and 1:35,100, whereas the number of couples needed to screen to detect an affected fetus are about 3,200, 26,120; 36,040; 2,600, and 129,600, respectively, for the same racial/ethnic groups. Overall, the panethnic estimates for CFTR mutation frequencies are similar to those for non-Hispanic Caucasians. However, large differences in both clinical sensitivity and...Continue Reading
References
Aug 1, 1992·Annals of the Rheumatic Diseases·G RenierD Hurez
Jan 1, 1994·Human Mutation
Aug 1, 1995·Human Genetics·E KeremL Ben-Tur
Jan 1, 1997·Human Mutation·M MacekG R Cutting
Mar 20, 1998·The Journal of Pediatrics·A HamoshG R Cutting
Jan 1, 1997·Genetic Testing·B KeremE Kerem
Apr 3, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·W W GrodyUNKNOWN Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Ge
May 5, 2001·Genetic Testing·S OrgadE Gazit
Jun 5, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·R A HeimB A Allitto
Nov 1, 2001·Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology·R D Press
Mar 8, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiStacey C FitzSimmons
Oct 24, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Elizabeth M RohlfsBernice A Allitto
Jun 19, 2003·Prenatal Diagnosis·N J WaldG E Palomaki
Citations
Mar 25, 2005·Journal of Genetic Counseling·Elinor Langfelder-SchwindUNKNOWN National Society of Genetic Counselors Subcommittee on Cystic Fibrosis Carrier Testing
Feb 6, 2007·Journal of Genetic Counseling·James Price DillardPhilip Farrell
Jul 23, 2013·European Journal of Obstetrics, Gynecology, and Reproductive Biology·I LandaburuJ-A Castilla
Apr 29, 2005·The Journal of Molecular Diagnostics : JMD·Iris SchrijverAnja Kammesheidt
Jun 1, 2006·Current Opinion in Obstetrics & Gynecology·Rafet Gazvani, Iwan Lewis-Jones
Feb 19, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·David A FlockhartUNKNOWN ACMG Working Group on Pharmacogenetic Testing of CYP2C9, VKORC1 Alleles for Warfarin Use
Oct 23, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ellen S RegaladoKenneth A Pass
Aug 22, 2006·Pediatric Dermatology·Kara A Mensink, Jennifer L Hand
Sep 10, 2013·Journal of Genetic Counseling·Elinor Langfelder-SchwindRebecca Darrah
Dec 21, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Val V ZvereffKenneth J Friedman
Nov 21, 2007·Médecine sciences : M/S·Anne-Marie Laberge
Jun 23, 2015·Pediatric Pulmonology·Denise M KayUNKNOWN New York State Cystic Fibrosis Newborn Screening Consortium
Nov 6, 2015·Human Mutation·Erin E HughesDenise M Kay
May 6, 2015·Translational Research : the Journal of Laboratory and Clinical Medicine·Harriet CorvolLoïc Guillot
Oct 16, 2015·Journal of Obstetric, Gynecologic, and Neonatal Nursing : JOGNN·Jennifer J Shiroff, Lynne S Nemeth
Dec 29, 2015·The Journal of Molecular Diagnostics : JMD·Iris SchrijverMartin Kharrazi
Dec 4, 2015·The Journal of Molecular Diagnostics : JMD·Marie-Luise Brennan, Iris Schrijver
Aug 11, 2015·Pediatric Pulmonology·Katelyn Parker-McGillHara Levy
Sep 20, 2005·The Journal of Medical Investigation : JMI·Takafumi Noma
Aug 1, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Elaine LyonUNKNOWN CAP/ACMG Biochemical and Molecular Genetics Committee
Mar 6, 2018·BMC Medical Genomics·Maxim IvanovKamil Khafizov
Nov 20, 2009·Anesthesia and Analgesia·Julie L HuffmyerEdward C Nemergut
Oct 31, 2019·Pediatric Pulmonology·Andrew M ZeigerJose Rodriguez-Santana
Feb 14, 2018·Clinical Chemistry·Joesph R Wiencek, Stanley F Lo
Jun 19, 2013·Clinical Chemistry·Ahmad N Abou TayounGregory J Tsongalis
Apr 9, 2011·Clinical Chemistry·Elizabeth M RohlfsElaine A Sugarman
Apr 9, 2011·Clinical Chemistry·Iris Schrijver
May 19, 2007·Clinical Chemistry·Xin LinWlodek Mandecki
Sep 20, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Simon SandersonJon Emery
Sep 12, 2019·NPJ Genomic Medicine·J P SugunarajU L Mirshahi
Aug 8, 2020·Annals of Saudi Medicine·Talal AlMaghamsiIslam Junaid
Jul 1, 2020·BioMed Research International·César Paz-Y-MiñoPaola E Leone
Dec 20, 2005·Expert Review of Molecular Diagnostics·Jean A AmosMichael R Jarvis
Jun 15, 2019·Channels·Susumu YoshieAkihiro Hazama
May 6, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lynn PiqueIris Schrijver
Sep 25, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stephanie A KraftKatrina A B Goddard
May 6, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Maggie WestemeyerPaul Billings
Jul 13, 2013·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Jay StoerkerCarol A Holland
Feb 16, 2019·Respiratory Research·Valentino BezzerriMarco Cipolli
Sep 17, 2020·Human Mutation·Stefano DonegàFranco Pagani
Feb 3, 2021·Pediatrics in Review·Kimberly M Dickinson, Joseph M Collaco
Nov 18, 2020·La Radiologia medica·Corrado TagliatiAndrea Giovagnoni
Apr 2, 2021·BMC Pediatrics·Bennett O V ShumR Kishore Kumar
Apr 29, 2021·Journal of Endourology·Joseph MoryousefMichael Ordon
May 6, 2021·Genes·Chadia MekkiAlix de Becdelièvre
Jul 22, 2021·Molecular Genetics & Genomic Medicine·David A ZeeviJosef Ekstein
Jun 1, 2006·Current Opinion in Obstetrics & Gynecology
Aug 5, 2021·Prenatal Diagnosis·Carmen M AvramAaron B Caughey