9/16/2014. Advances in the Field of Bleeding Disorders Janus Series
|
|
- Bridget Lee Griffith
- 7 years ago
- Views:
Transcription
1 Advances in the Field of Bleeding Disorders Janus Series Elizabeth Varga, MS, LGC Nationwide Children s Hospital Division of Hematology/Oncology/BMT Clinical Assistant Professor of Pediatrics The Ohio State University Conflict of Interest Disclosures In relation to this presentation, I declare that there are no conflicts of interest. Objectives Identify advances in treatment, management and the molecular diagnosis of bleeding disorders Describe a genotyping initiative for the hemophilia community Describe the clinical presentation of bleeding disorders in women and the impact of their condition during each life stage Examine opportunities for genetic counselors in the field of bleeding disorders 1
2 Bleeding Disorders Hemophilia A (factor VIII deficiency) Hemophilia B (factor IX deficiency) Combined: 1 in 5,000 live births; Hemophilia A- 4x more common Von Willebrand s disease 1% of U.S. population Rare coagulation factor deficiencies Fibrinogen (factor I), prothrombin (factor II), factor V, factor VII, factor X, factor XI, factor XIII Inherited platelet disorders Definition of Hemophilia Hemophilia: one of the oldest described genetic diseases Model of X-linked inheritance Severe: Clotting factor <1% Moderate: Clotting factor 1-5% Mild: Clotting factor: >5%- 40% The Evolving Story of Hemophilia THEN Short life expectancy with severe bleeding 1900 s- 13 years years 1980 s- AIDS epidemic NOW Mid 1990 s- Recombinant factor products become FDA approved Prophylaxis becomes standard of care 2010: Long acting factor products show promise The hemophilia community is now grappling with issues related to aging Bleeding-Disorders 2
3 Gene Therapy The HTC Network www2a.cdc.gov/ncbddd/htcweb/dir_report/dir_search.asp Molecular Underpinnings of Hemophilia A Hemophilia A Genotype Databases: unique F8 mutations Mutation detection rate (~95%) Testing strategy varies by severity of disease GeneReviews: Hemophilia A 3
4 Molecular Underpinnings of Hemophilia B Hemophilia B Genotyping databases: hemophilia/champs.htm 1,108 unique F9 mutations F9 mutation detection rate ~95% Testing strategy: Sequencing; del/dup secondary Frequency of F9 Mutation Types in the CHBMP Mutation List (CDC data) Figure adapted from: Inhibitor Risk and Genotype Inhibitors are a major cause of morbidity in hemophilia Occur in up to 15-25% of patients who have been treated with factor products 5-7% of hemophilia population has a long-term inhibitor Most develop during the first few infusions Factors associated with inhibitor formation include age, race (more common in African Americans and Hispanics), HLA type, family history of inhibitors, and high intensity factor exposure. Hemophilia A Inhibitor Risk and Genotype Genotype Higher risk mutations Inversion 22 ( %) Large deletions (30-41%) Nonsense mutations (31-37%) Lower risk mutations Missense (4.3-8%) Small deletion or insertion (7.4-22%) Splice site (0-3%) Hemophilia B High risk mutations Large gene deletion, nonsense mutations (null genotype) There is an increased risk of anaphylaxis to factor product in those with null mutations Reference: Miller, C. Haemophilia (2012), 18,
5 My Life, Our Future Genotyping Initiative A national program for the hemophilia community that: Offers a free genotyping test to people with hemophilia A or B Clinical grade genotyping and option of research participation All affected patients are eligible Goals: Provide genotype information for patients and families Learn more about genotype-phenotype correlations Offered through HTC s Will roll out to at-risk/obligate carriers in 2015 Information at booth #118: ATHN/NHPCC Von Willebrand disease (VWD) May be inherited or acquired Is the most common hereditary bleeding disorder General population prevalence: ~1% Arises from a quantitative or qualitative deficiency of von Willebrand factor (vwf) Diagnosis is based on: Low levels of vwf or abnormal multimers Type 1 (75-80% of VWD cases) 10-45% of normal antigen levels Mild to moderate bleeding propensity; autosomal dominant inheritance vwf gene sequencing and del/dup. Yield: 33-60%; greatest yield if <20 IU/dl and/or positive family history Genotyping in VWD Type 2 (10-15% of VWD cases) Abnormal multimers and/or binding assays Variable bleeding propensity (usually moderate) Autosomal dominant or autosomal recessive inheritance Due to mutations in exon 28 only (Yield: 99%) Exception: Type 2N (typically exons 18-20) Type 3 (~5% of VWD cases) vwf antigen <10% Severe bleeding propensity Autosomal recessive vwf gene sequencing and del/dup Yield: 80-90% Reference: 5
6 Benefits of Genotyping in Bleeding Disorders Confirmation of diagnosis when other laboratory testing is not definitive Type 1 VWD and Hemophilia A carrier vs. type 2N VWD Genotype-phenotype information Inhibitor risks Reproductive implications Recurrence risks (autosomal vs. X-linked) Opportunity for IVF with PGD and/or prenatal diagnosis Identification of women at-risk to be carriers of hemophilia Factor levels may be reduced but molecular diagnosis is definitive Hemophilia Carriers Approximately 35% of hemophilia carriers have a low factor VIII or IX level Normal range IU/dl 35% of hemophilia carriers have levels <40 IU/dL Now referred to as having mild hemophilia Bleeding may occur in carriers with levels between IU/dL Other reasons for increased severity Concurrent VWD Turner syndrome, X chromosome microdeletions/translocation, skewed X-inactivation, biallelic mutations (consanguinity) Counseling of Women Through the Life Stages Childhood: Nosebleeds, easy bruising, oral bleeding, bleeding from minor cuts and wounds, bleeding after trauma or surgery, GI or joint bleeding Adolescence: Menorrhagia Consider risks and benefits of hormonal contraception (oral vs. levonorgestrel-releasing intrauterine device (Mirena); tranexamic acid; desmopressin acetate Anemia: iron supplementation Preconception: Genetic risks to offspring Counseling about considerations for pregnancy, childbirth and post-partum (maternal and fetal risks) 6
7 Counseling Through the Life Stages Pregnancy/Childbirth & Postpartum Risk of miscarriage- increased in factor XIII and fibrinogen deficiencies Implications for delivery (vaginal birth vs. Cesarean section) Risks of regional anesthesia (epidural) Testing of fetal cord blood Risks of delayed hemorrhage Perimenopausal Management of bleeding due to hemorrhagic ovarian cysts, fibroids, polyps and endometrial hyperplasia (may present pre-menopausally) Risks and benefits of hormone replacement Prophylaxis for bleeding around procedures Opportunities for Genetic Counselors To educate health care providers: Genetics of bleeding disorders Identification of appropriate molecular tests Categorization of genomic variants Ethical issues surrounding testing Unique needs of patients and families To meet the needs of families: Identification of, and intervention for, at-risk family members, particularly females. To be involved in national/international organizations: National Hemophilia Foundation genetic counseling working group American Thrombosis and Hemostasis Network Genetics Working Group World Federation of Hemophilia Foundation for Women and Girls With Bleeding Disorders Patient Resources 7
8 Patient Resources National Hemophilia Foundation HemAware Foundation for Women and Girls With Blood Disorders: World Federation of Hemophilia: Carriers and women with Hemophilia Genetic Counseling for Hemophilia von Willebrand Disease Rare Clotting Factor Deficiencies and Inherited Platelet Disorders Resources for Genetic Counselors My Life, Our Future: Genotyping Databases GeneReviews: Hemophilia A, Hemophilia B, von Willebrand disease Training and Online Education Partners in Bleeding Disorders Education: References for Genetic Counselors Manuscripts James, A. Women and bleeding disorders. Haemophilia (2010), 16 (Suppl. 5), Miller, C. F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. Haemophilia (2012), 18, Peyvandi, F. Genetic sequence analysis of inherited bleeding diseases. Blood (2013) 122: Guidelines National Hemophilia Foundation: MASAC Guidelines: Council-MASAC/All-MASAC-Recommendations NHLBI Guidelines on Diagnosis, Evaluation and Management of von Willebrand Disease: Von Willebrand Disease ACOG Committee Opinion: And-Publications/Committee-Opinions/Committee-on-Adolescent-Health-Care/Von-Willebrand- Disease-in-Women 8
9 Acknowledgements Nationwide Children s Hospital- Hemostasis and Thrombosis Center Drs. Dunn, Kerlin, Kumar, O Brien, Rose Nursing staff Patients and families Genetic Counselors: Michelle Alabek, Margaret (Meg) Bradbury, Meadow Heiman, Robina Ingram-Rich, Kristin Paulyson-Nuñez, Marianna Raia Division of Blood Disorders: Centers for Disease Control and Prevention Andra James, MD, MPH 9
Symptomatic Carriers of Hemophilia
of This chapter provides answers to these questions: What is a carrier of hemophilia? How does a woman become a carrier of hemophilia? How are carriers of hemophilia diagnosed? What is a symptomatic carrier?
More informationATHN Assets for the Community: ATHNdataset Michael Recht, MD PhD 10/30/2014 1
ATHN Assets for the Community: ATHNdataset Michael Recht, MD PhD 10/30/2014 1 Sept. 2010 Dec. 2011 Mar. 2011 Jun. 2011 Sept. 2011 Dec. 2011 Mar. 2012 Jun. 2012 Sept. 2012 Dec. 2012 Mar. 2013 Jun. 2013
More informationHow To Know If You Have A Bleeding Disorder
WHAT ARE RARE CLOTTING FACTOR DEFICIENCIES? Published by the World Federation of Hemophilia (WFH) World Federation of Hemophilia, 2009 The WFH encourages redistribution of its publications for educational
More informationUniversity of Utah CME Statement
University of Utah CME Statement The University of Utah School of Medicine adheres to ACCME Standards regarding industry support of continuing medical education. Speakers are also expected to openly disclose
More informationLABORATORY DIAGNOSIS OF BLEEDING DISORDERS
LABORATORY DIAGNOSIS OF BLEEDING DISORDERS Secondary Hemostasis CIRCULATORY SYSTEM Low volume, high pressure system Efficient for nutrient delivery to tissues Prone to leakage 2º 2 to endothelial surface
More informationAbnormal Uterine Bleeding FAQ Sheet
Abnormal Uterine Bleeding FAQ Sheet What is abnormal uterine bleeding? Under normal circumstances, a woman's uterus sheds a limited amount of blood during each menstrual period. Bleeding that occurs between
More informationCorporate Medical Policy Genetic Testing for Fanconi Anemia
Corporate Medical Policy Genetic Testing for Fanconi Anemia File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_fanconi_anemia 03/2015 3/2016 3/2017 3/2016 Description
More informationAbnormal Basic Coagulation Testing Laboratory Testing Algorithms
Global Coagulation Testing Abnormal Basic Coagulation Testing Laboratory Testing Algorithms Jeffrey S. Jhang, M.D. No single global laboratory test Bleeding history is the strongest predictor of bleeding
More informationGene Therapy and Genetic Counseling. Chapter 20
Gene Therapy and Genetic Counseling Chapter 20 What is Gene Therapy? Treating a disease by replacing, manipulating or supplementing a gene The act of changing an individual s DNA sequence to fix a non-functional
More informationLEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD
LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns
More informationCarol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota
Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota The information provided by speakers in workshops, forums, sharing/networking
More informationINTRODUCTION Thrombophilia deep vein thrombosis DVT pulmonary embolism PE inherited thrombophilia
INTRODUCTION Thrombophilia (Hypercoagulability) is a condition in which a person forms blood clots more than normal. Blood clots may occur in the arms or legs (e.g., deep vein thrombosis DVT), the lungs
More informationBRCA in Men. Mary B. Daly,M.D.,Ph.D. June 25, 2010
BRCA in Men Mary B. Daly,M.D.,Ph.D. June 25, 2010 BRCA in Men Inheritance patterns of BRCA1/2 Cancer Risks for men with BRCA1/2 mutations Risk management recommendations for men with BRCA1/2 mutations
More informationINTRODUCTION Thrombophilia deep vein thrombosis DVT pulmonary embolism PE inherited thrombophilia
INTRODUCTION Thrombophilia (Hypercoagulability) is a condition in which a person forms blood clots more than normal. Blood clots may occur in the arms or legs (e.g., deep vein thrombosis DVT), the lungs
More informationRational for secondary prophylaxis in VWD
Rational for secondary prophylaxis in VWD Susan Halimeh Medical Thrombosis and Haemophilia treatment Center, Duisburg, Germany Dr. med. Susan Halimeh When is prophylaxis in patients with VWD recommended?
More informationThe following chapter is called "Preimplantation Genetic Diagnosis (PGD)".
Slide 1 Welcome to chapter 9. The following chapter is called "Preimplantation Genetic Diagnosis (PGD)". The author is Dr. Maria Lalioti. Slide 2 The learning objectives of this chapter are: To learn the
More informationProvided by the American Venous Forum: veinforum.org
CHAPTER 3 CLOTTING DISORDERS Original authors: Edith A. Nutescu, Jessica B. Michaud, Joseph A. Caprini, Louis W. Biegler, and Robert R. McCormick Abstracted by Kellie R. Brown Introduction The normal balance
More informationWhat Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives
What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What does the career involve? Explore family histories to identify risks Reducing risks
More informationUNIT 13 (OPTION) Genetic Abnormalities
Unit 13 Genetic Abnormailities 1 UNIT 13 (OPTION) Genetic Abnormalities Originally developed by: Hildur Helgedottir RN, MN Revised (2000) by: Marlene Reimer RN, PhD, CCN (C) Associate Professor Faculty
More informationPreimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2
August 2012 content 8 Preimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2 Maintaining fertility new opportunities in GENNET...3 Hysteroscopy without
More informationG. Shashidhar Pai, MD MUSC Children s Hospital Department of Pediatrics Division of Genetics
G. Shashidhar Pai, MD MUSC Children s Hospital Department of Pediatrics Division of Genetics One of every 500 newborns has bilateral permanent sensorineural hearing loss 40 db which makes it the most common
More informationDysfunctional Uterine Bleeding
:{ic0fp'16 ACOFP 53 rd Annual Convention & Scientific Seminars Dysfunctional Uterine Bleeding Michele Tartaglia, DO Michele Tartaglia, DO, FACOOG, CS Assistant Professor and Residency Program Director
More informationAbigail R. Proffer, M.D. October 4, 2013
Abigail R. Proffer, M.D. October 4, 2013 Topics Human Papillomavirus (HPV) Vaccines Pap smears Colposcopy Contraception Polycystic Ovary Syndrome (PCOS) Can I get pregnant? Miscarriage Abnormal Uterine
More informationThrombophilia. Steven R. Lentz, M.D. Ph.D. Carver College of Medicine The University of Iowa May 2003
Thrombophilia Steven R. Lentz, M.D. Ph.D. Carver College of Medicine The University of Iowa May 2003 Thrombophilia Hereditary and acquired risk factors for thrombosis Venous thromboembolism Arterial thromboembolism
More informationHAEMOPHILIA & UMBILICAL CORD BLOOD TRANSPLANT
HAEMOPHILIA & UMBILICAL CORD BLOOD TRANSPLANT Haemostatic System in Body Blood vessels Platelets Plasma coagulation system Proteolytic or Fibrinolytic system How Bleeding Stops Vasoconstriction Platelet
More informationObjectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL
Objectives Role of Medical Genetics in Hearing Loss Evaluation Millan Patel, MD UBC Dept. of Medical Genetics October 22, 2010 Case presentation to illustrate importance of defining syndromic hearing loss
More informationChromosomes, Mapping, and the Meiosis Inheritance Connection
Chromosomes, Mapping, and the Meiosis Inheritance Connection Carl Correns 1900 Chapter 13 First suggests central role for chromosomes Rediscovery of Mendel s work Walter Sutton 1902 Chromosomal theory
More informationEuropean guidelines for the certification of Haemophilia Centres
European guidelines for the certification of Haemophilia Centres 07 June 2013 NOTICE These Standards are designed to provide minimum guidelines for European Haemophilia Centres. These Standards are not
More informationOvarian Cancer Genetic Testing: Why, When, How?
Ovarian Cancer Genetic Testing: Why, When, How? Jeffrey Dungan, MD Associate Professor Division of Clinical Genetics Department of Obstetrics & Gynecology Northwestern University Feinberg School of Medicine
More informationPreimplantation Genetic Diagnosis. Evaluation for single gene disorders
Preimplantation Genetic Diagnosis Evaluation for single gene disorders What is Preimplantation Genetic Diagnosis? Preimplantation genetic diagnosis or PGD is a technology that allows genetic testing of
More informationCoagulation Disorders In Pregnancy
Coagulation Disorders In Pregnancy Dr Rashmi Sharma, M.D, FRCA SpR Anaesthetics Blackburn Royal Infirmary Dr Anna Bewlay FRCA Consultant Anaesthetist Royal Preston Hospital Physiological changes in pregnancy
More informationTreatment of Hemophilia A and B Marianne McDaniel, RN FACTOR REPLACEMENT CONCENTRATES AND VIRAL INACTIVATION
Treatment of Hemophilia A and B Marianne McDaniel, RN INTRODUCTION Treatment for patients with hemophilia and other bleeding disorders has evolved over the past several decades. Replacement of the specific
More informationPlatelet storage pool disease case discussions. Tzu-Fei Wang The Hemostasis and Thrombosis Center The Ohio State University
Platelet storage pool disease case discussions Tzu-Fei Wang The Hemostasis and Thrombosis Center The Ohio State University Case I 29 yo WF presented for evaluation of possible platelet storage pool disease,
More informationAddressing the Needs of Members with Hemophilia in Medicaid Managed Care: Issues and Implications for Health Plans
Addressing the Needs of Members with Hemophilia in Medicaid Managed Care: Issues and Implications for Health Plans Clinical Brief Medicaid Health Plans of America Center for Best Practices July 22, 2013
More informationReproductive Technology. Chapter 21
Reproductive Technology Chapter 21 Assisted Reproduction When a couple is sub-fertile or infertile they may need Assisted Reproduction to become pregnant: Replace source of gametes Sperm, oocyte or zygote
More informationType 2 In this type, the von Willebrand factor produced does not work efficiently. Type 2 vw is divided in four subtypes: 2a, 2b, 2m and 2n.
The Haemophilia Society INFORMATION FACT SHEET VON WILLEBRAND S: GENERAL INFORMATION What is von Willebrand s? Von Willebrand s is a blood clotting condition, which is usually inherited. It was first described
More informationObstetrical Ultrasound and Prenatal Diagnostic Center
Obstetrical Ultrasound and Prenatal Diagnostic Center Prenatal Diagnosis: Options and Opportunities Learn about various screening options including Early Risk Assessment (ERA), now available to women of
More informationBleeding Disorders What Every ER RN Should KNOW! Sherry Purcell, RN Hemophilia Nurse Specialist/EMERGENCY RN Kingston General Hospital
Bleeding Disorders What Every ER RN Should KNOW! Sherry Purcell, RN Hemophilia Nurse Specialist/EMERGENCY RN Kingston General Hospital 1 Canada s Inherited Bleeding Disorder Centres 26 Hemophilia A, B
More informationCHROMOSOMES AND INHERITANCE
SECTION 12-1 REVIEW CHROMOSOMES AND INHERITANCE VOCABULARY REVIEW Distinguish between the terms in each of the following pairs of terms. 1. sex chromosome, autosome 2. germ-cell mutation, somatic-cell
More informationREI Pearls: Pitfalls of Genetic Testing in Miscarriage
The Skinny: Genetic testing of miscarriage tissue is controversial and some people question if testing is helpful or not. This summary will: 1) outline the arguments for and against genetic testing; 2)
More informationLessons Learned from Carrier Screening: Cystic Fibrosis The Parent s s Perspective
Lessons Learned from Carrier Screening: Cystic Fibrosis The Parent s s Perspective Martin Kharrazi, Ph.D. Genetic Disease Screening Program California Department of Public Health Population-based Carrier
More informationCareers in Haematology
Careers in Haematology A Guide for Medical Students and Junior Doctors Haematology is the medical speciality concerned with blood disorders. Your non-medical friends however will always think that you
More informationFREQUENTLY ASKED QUESTIONS (FAQ)
FREQUENTLY ASKED QUESTIONS (FAQ) Questions What is the ABDR? How does the National Blood Authority (NBA) know that I ve ordered clotting factor product? Which bleeding disorders are within the scope of
More informationFAMILY PLANNING AND PREGNANCY
FAMILY PLANNING AND PREGNANCY Decisions about family planning can be difficult and very emotional when one of the prospective parents has a genetic disorder, such as Marfan syndrome. Before making any
More informationIrish Haemophilia Society. Introduction to Haemophilia. Brian O Mahony November 2009
Irish Haemophilia Society Introduction to Haemophilia Brian O Mahony November 2009 1 Content Introduction to Haemophilia Introduction to Von Willebrand's Disease Inheritance Bleeding patterns Introduction
More informationTranexamic Acid. Tranexamic Acid. Overview. Blood Conservation Strategies. Blood Conservation Strategies. Blood Conservation Strategies
Overview Where We Use It And Why Andreas Antoniou, M.D., M.Sc. Department of Anesthesia and Perioperative Medicine University of Western Ontario November 14 th, 2009 Hemostasis Fibrinolysis Aprotinin and
More informationWho Is Involved in Your Care?
Patient Education Page 3 Pregnancy and Giving Birth Who Is Involved in Your Care? Our goal is to surround you and your family with a safe environment for the birth of your baby. We look forward to providing
More informationWhat Does Pregnancy Have to Do With Blood Clots in a Woman s Legs?
Patient s Guide to Prevention of Blood Clots During Pregnancy: Use of Blood-Thinning A Patient s Guide to Prevention of Blood Clots During Pregnancy: Use of Blood-Thinning Drugs to Prevent Abnormal Blood
More informationPatient Information. for Childhood
Patient Information Genetic Testing for Childhood Hearing Loss Introduction This document describes the most common genetic cause of childhood hearing loss and explains the role of genetic testing. Childhood
More informationGynecologic Cancer in Women with Lynch Syndrome
Gynecologic Cancer in Women with Lynch Syndrome Sarah E. Ferguson, MD FRCSC Division of Gynecologic Oncology, Princess Margaret Hospital, University of Toronto June 11, 2013 Objective 1. To review the
More informationGENETIC CONSIDERATIONS IN CANCER TREATMENT AND SURVIVORSHIP
GENETIC CONSIDERATIONS IN CANCER TREATMENT AND SURVIVORSHIP WHO IS AT HIGH RISK OF HEREDITARY CANCER? Hereditary Cancer accounts for a small proportion of all cancer or approximately 5-10% THE DEVELOPMENT
More informationMendelian inheritance and the
Mendelian inheritance and the most common genetic diseases Cornelia Schubert, MD, University of Goettingen, Dept. Human Genetics EUPRIM-Net course Genetics, Immunology and Breeding Mangement German Primate
More informationPOLYCYSTIC OVARY SYNDROME
POLYCYSTIC OVARY SYNDROME Information Leaflet Your Health. Our Priority. Page 2 of 6 What is polycystic ovary syndrome? (PCOS) Polycystic ovary syndrome (PCOS) is the most common hormonal disorder in women
More informationHeavy periods (menstrual bleeding)
Heavy periods (menstrual bleeding) This information sheet has been given to you to help answer some of the questions you may have about heavy periods and the treatments that are available. This leaflet
More informationThe Developing Person Through the Life Span 8e by Kathleen Stassen Berger
The Developing Person Through the Life Span 8e by Kathleen Stassen Berger Chapter 3 Heredity and Environment PowerPoint Slides developed by Martin Wolfger and Michael James Ivy Tech Community College-Bloomington
More informationNew Anticoagulants: When and Why Should I Use Them? Disclosures
Winship Cancer Institute of Emory University New Anticoagulants: When and Why Should I Use Them? Christine L. Kempton, MD, MSc Associate Professor of Pediatrics and Hematology and Medical Oncology Hemophilia
More informationA Strategic Plan for Improving Preconception Health and Health Care: Recommendations from the CDC Select Panel on Preconception Care
1 A Strategic Plan for Improving Preconception Health and Health Care: Recommendations from the CDC Select Panel on Preconception Care Presentation by Kay A. Johnson, MPH, EdM Research Assistant Professor,
More informationMy Sister s s Keeper. Science Background Talk
My Sister s s Keeper Science Background Talk Outline Acute promyelocytic leukemia (APL) APL Treatment Savior Siblings In vitro fertilization (IVF) Pre-implantation Genetic Diagnosis (PGD) Risks of donating
More informationEach person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.
AP Psychology 2.2 Behavioral Genetics Article Chromosomal Abnormalities About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes.
More informationPreimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching
Preimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching Andria G. Besser, BEd, MS, CGC Licensed Genetic Counselor Reproductive Genetics Institute Chicago, IL Outline PGD overview In
More informationCarrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner)
Carrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner) The goal of our practice at ARMS is to make sure that you receive optimal care to improve your chances of having
More informationUnderstanding Your Risk of Ovarian Cancer
Understanding Your Risk of Ovarian Cancer A WOMAN S GUIDE This brochure is made possible through partnership support from Project Hope for Ovarian Cancer Research and Education. Project HOPE FOR OVARIAN
More informationOptional Tests Offered Before and During Pregnancy
Plano Women s Healthcare Optional Tests Offered Before and During Pregnancy Alpha-Fetoprotein Test (AFP) and Quad Screen These are screening tests that can assess your baby s risk of having such birth
More informationGenetic Counseling and Testing: Cancer Genetics
KAISER PERMANENTE HAWAII CLINICAL PRACTICE GUIDELINE Genetic Counseling and Testing: Cancer Genetics QUALITY COMMITTEE ADOPTION DATE: October 2015 LAST REVIEW DATE: September 2015 NEXT SCHEDULED REVIEW
More informationPreimplantation Genetic Diagnosis (PGD) and Childhood Diagnostic Evaluation
IG O Preimplantation Genetic Diagnosis (PGD) and Childhood Diagnostic Evaluation KD Carsten Bergmann carsten.bergmann@bioscientia.de carsten.bergmann@uniklinik-freiburg.de Controversies Conference on ADPKD
More informationWendy Martinez, MPH, CPH County of San Diego, Maternal, Child & Adolescent Health
Wendy Martinez, MPH, CPH County of San Diego, Maternal, Child & Adolescent Health Describe local trends in birth Identify 3 perinatal health problems Identify 3 leading causes of infant death Age Class
More information1 Mutation and Genetic Change
CHAPTER 14 1 Mutation and Genetic Change SECTION Genes in Action KEY IDEAS As you read this section, keep these questions in mind: What is the origin of genetic differences among organisms? What kinds
More informationA test your patients can trust. A company you know and trust.
A test your patients can trust. A company you know and trust. informaseq Prenatal Test an advanced, non-invasive, prenatal screening for T21, T18, and T13 chromosomal aneuploidies using next generation
More informationUniversity of Cincinnati and Cincinnati Children s Hospital Medical Center. Genetic Counseling Program M.S.
University of Cincinnati and Cincinnati Children s Hospital Medical Center Genetic Counseling Program M.S. What is genetic counseling? Genetic counseling is the process of helping people understand and
More informationGenetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina
Genetic Counseling: A Profession in the Making Jessica Hooks, MS Genetic Counselor University of South Carolina Definition the process of helping people understand and adapt to the medical, psychological
More informationGenetic testing. The difference diagnostics can make. The British In Vitro Diagnostics Association
6 Genetic testing The difference diagnostics can make The British In Vitro Diagnostics Association Genetic INTRODUCTION testing The Department of Health published Our Inheritance, Our Future - Realising
More informationMinimum standards for ICSI use, screening, patient information and follow-up in WA fertility clinics. January 2006
Minimum standards for ICSI use, screening, patient information and follow-up in WA fertility clinics January 2006 1. BACKGROUND ICSI has been shown to be effective for male factor infertility and it also
More informationSARASOTA MEMORIAL HOSPITAL BLOOD COMPONENT CRITERIA AND INDICATIONS SCREENING GUIDELINES
SARASOTA MEMORIAL HOSPITAL BLOOD COMPONENT CRITERIA AND INDICATIONS SCREENING GUIDELINES TABLE OF CONTENTS SUBJECT PAGE ADULT CRITERIA Red Blood Cells/Autologous 2 Washed Red Blood Cells 2 Cryoprecipitate
More informationGenetic Mutations Cause Many Birth Defects:
Genetic Mutations Cause Many Birth Defects: What We Learned from the FORGE Canada Project Jan M. Friedman, MD, PhD University it of British Columbia Vancouver, Canada I have no conflicts of interest related
More informationIntroduction Hemophilia is a rare bleeding disorder in which the blood does not clot normally. About 1 in 10,000 people are born with hemophilia.
Hemophilia Introduction Hemophilia is a rare bleeding disorder in which the blood does not clot normally. About 1 in 10,000 people are born with hemophilia. Hemophilia can be mild, moderate, or severe.
More informationAbnormal Uterine Bleeding. Howard Herrell, MD FACOG
Abnormal Uterine Bleeding Howard Herrell, MD FACOG Disclosures I, Howard Herrell, DO NOT have a financial interest/arrangement or affiliation with one or more organizations that could be perceived as a
More informationSUBMISSION ON THE FUNDING OF EXTENDED HALF LIFE FACTOR VIII CONCENTRATES
SUBMISSION ON THE FUNDING OF EXTENDED HALF LIFE FACTOR VIII CONCENTRATES WHO WE ARE In 1953, a small group of hemophiliacs, their families and physicians in Montreal founded the Canadian Hemophilia Society
More informationAbnormal Uterine Bleeding: Simple evaluation and management in premenopausal women
Objectives Abnormal Uterine Bleeding: Simple evaluation and management in premenopausal women Provide a framework to evaluate abnormal uterine bleeding (AUB) Review medical and surgical management options
More informationCHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA
CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:
More informationManagement and Treatment Guidelines for Cornelia de Lange Syndrome
Management and Treatment Guidelines for Cornelia de Lange Syndrome These cards highlight routine care for people with CdLS needed by specific age groups, including infancy, early and late childhood, adolescence
More informationFACTOR XII DEFICIENCY AN INHERITED BLEEDING DISORDER AN INFORMATION BOOKLET
FACTOR XII DEFICIENCY AN INHERITED BLEEDING DISORDER AN INFORMATION BOOKLET Acknowledgements This information booklet on Factor XII Deficiency was prepared by: Nathalie Aubin Nurse Coordinator, Hemophilia
More informationPROVIDER POLICIES & PROCEDURES
PROVIDER POLICIES & PROCEDURES BRCA GENETIC TESTING The purpose of this document is to provide guidance to providers enrolled in the Connecticut Medical Assistance Program (CMAP) on the requirements for
More informationNORD Guides for Physicians #1. Physician s Guide to. Tyrosinemia. Type 1
NORD Guides for Physicians #1 The National Organization for Rare Disorders Physician s Guide to Tyrosinemia Type 1 The original version of this booklet was made possible by donations in honor of Danielle
More informationHemophilia Care. Will there always be new people in the world with hemophilia? Will hemophilia be treated more effectively and safely in the future?
Future of This chapter provides answers to these questions: Will there always be new people in the world with hemophilia? Will hemophilia be treated more effectively and safely in the future? Will the
More informationEhlers-Danlos Syndrome Fertility Issues. Objectives
Ehlers-Danlos Syndrome Fertility Issues Baltimore Inner Harbor Independence Day Brad Hurst, M.D. Professor Reproductive Endocrinology Carolinas Medical Center - Charlotte, North Carolina Objectives Determine
More informationQUICK REFERENCE TO BLOOD BANK TESTING
QUICK REFERENCE TO BLOOD BANK TESTING All Blood bank Tests are performed on demand 24 hours a day, 7 days a week. Feto/Maternal Bleed Quantitation estimates will be available within 4 hours of blood bank
More informationCanadian Hemophilia Society, Manitoba Chapter Community Service Award Program
Canadian Hemophilia Society, Manitoba Chapter Community Service Award Program Purpose of the Program In an effort to bring young volunteers into the Canadian Hemophilia Society, Manitoba Chapter s (CHS-MC),
More informationA test your patients can trust.
A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate
More informationGenetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes.
Genetic Mutations Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Agenda Warm UP: What is a mutation? Body cell? Gamete? Notes on Mutations Karyotype Web Activity
More informationTitle: Genetics and Hearing Loss: Clinical and Molecular Characteristics
Session # : 46 Day/Time: Friday, May 1, 2015, 1:00 4:00 pm Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics Presenter: Kathleen S. Arnos, PhD, Gallaudet University This presentation
More informationINFORMED CONSENT AND AUTHORIZATION FOR IN VITRO FERTILIZATION OF PREVIOUSLY CRYOPRESERVED OOCYTES
INFORMED CONSENT AND AUTHORIZATION FOR IN VITRO FERTILIZATION OF PREVIOUSLY CRYOPRESERVED OOCYTES We, the undersigned, as patient and partner understand that we will be undergoing one or more procedures
More informationGENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110
GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110 COVERAGE: Pre- and post-genetic test counseling may be eligible for coverage in addition to the genetic
More informationUnderstanding Hereditary Breast and Ovarian Cancer. Maritime Hereditary Cancer Service
Understanding Hereditary Breast and Ovarian Cancer Maritime Hereditary Cancer Service General Information Cancer is very common. About one in three (33%) people are diagnosed with some form of cancer during
More informationCommunicating with Families about Family History and Genetics
Communicating with Families about Family History and Genetics Abdallah F. Elias, M.D. Providence Genetics Clinic at Grant Creek & Florence Family Practice Department of Biomedical and Pharmaceutical Sciences
More informationMATERNAL AND CHILD HEALTH BRIEF #2:
MATERNAL AND CHILD HEALTH BRIEF #2: OBESITY AMONG CHILDREN AND ADOLESCENTS SEPTEMBER 2012 OBESITY DEFINED Obesity and overweight are typically measured OVERVIEW in terms of Body Mass Index or BMI. BMI
More informationInfluence of Sex on Genetics. Chapter Six
Influence of Sex on Genetics Chapter Six Humans 23 Autosomes Chromosomal abnormalities very severe Often fatal All have at least one X Deletion of X chromosome is fatal Males = heterogametic sex XY Females
More informationREPRODUCTIVE MEDICINE AND INFERTILITY ASSOCIATES Woodbury Medical Arts Building 2101 Woodwinds Drive Woodbury, MN 55125 (651) 222-6050
REPRODUCTIVE MEDICINE AND INFERTILITY ASSOCIATES Woodbury Medical Arts Building 2101 Woodwinds Drive Woodbury, MN 55125 (651) 222-6050 RECIPIENT COUPLE INFORMED CONSENT AND AUTHORIZATION FOR IN VITRO FERTILIZATION
More informationA guide for people living with von Willebrand disorder
A guide for people living with von Willebrand disorder CONTENTS What is von Willebrand disorder (VWD)?... 3 Symptoms... 5 Types of VWD... 6 How do you get VWD?... 7 VWD and blood clotting... 11 Diagnosis...
More informationPosition Statement. Genetic Testing and Life Insurance in Australia
HUMAN GENETICS SOCIETY OF AUSTRALASIA ARBN. 076 130 937 (Incorporated Under the Associations Incorporation Act) The liability of members is limited PO Box 6012, Alexandria, NSW 2015 ABN No. 17 076 130
More informationpatient education Fact Sheet PFS007: BRCA1 and BRCA2 Mutations MARCH 2015
patient education Fact Sheet PFS007: BRCA1 and BRCA2 Mutations MARCH 2015 BRCA1 and BRCA2 Mutations Cancer is a complex disease thought to be caused by several different factors. A few types of cancer
More information