nxtpanel Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome
|
|
- Barrie Craig
- 7 years ago
- Views:
Transcription
1 nxtpanel Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome A Guide to Genetic Carrier Screening
2 Prepare for life. It s not about finding out what s wrong. It s about knowing everything is all right. If you re an expectant parent, or planning a pregnancy, you probably want to know all you can about your future family. Genetic carrier screening allows for a closer look at your genes, to see if there is a chance your baby could inherit certain genetic disorders. Our nxtpanel is a genetic carrier screening test that can identify your risk for having a child with one of these common hereditary disorders: cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. It s a simple test that can help you plan with confidence. How is the test performed? A simple test of your DNA (using a blood sample, mouthwash sample or cheek swab) can determine with a high degree of accuracy whether you are a carrier of a genetic disorder.
3 Disease Cystic Fibrosis (CF) Spinal Muscular Atrophy (SMA) Fragile X Syndrome (FXS) Symptoms CF is the most common fatal genetic disorder in North America. It causes the body to produce very thick mucus that can damage internal organs. It clogs the lungs leading to life-threatening infections and can cause digestive problems, poor growth and infertility. Symptoms range from mild to severe, but do not affect intelligence. On average, CF patients live into their late thirties. About 1 in every 3,500 babies born in the US has the disorder. SMA is the most common inherited cause of infant death. It affects a person s ability to control their muscles, including those involved in breathing, eating, crawling and walking. SMA has different levels of severity, none of which affect intelligence. However, the most common form of the disorder causes death by age two. About one in every 6,000 to one in every 10,000 babies born in the US has SMA. FXS is the most common inherited cause of intellectual disability. Symptoms cover a wide range, from mild to very severe. About one-third of all people with FXS also have autism. Individuals with the disorder may also have behavioral issues such as hyperactivity, social anxiety and aggression. Females usually have milder symptoms than males. Approximately 1 in every 3,600 boys and 1 in every 6,000 girls is born with FXS. Inheritance When both parents are carriers, there is a 1 in 4 (25%) chance the child will When both parents are carriers, there is a 1 in 4 (25%) chance the child will When only the mother is a carrier, there is up to a 1 in 2 (50%) chance the child will Carrier Frequency 1 in 24 Ashkenazi Jews 1 in 25 Caucasians 1 in 46 Hispanics 1 in 65 African-Americans 1 in 94 Asians 1 in 35 Caucasians 1 in 41 Ashkenazi Jews 1 in 53 Asians 1 in 66 African-Americans 1 in 117 Hispanics 1 in 259 females across all ethnic groups What does a negative result mean? A negative result indicates you are not a carrier for the disorders tested, which can provide significant peace of mind. However, no test can detect 100% of genetic carriers. Even if your test results are negative, it is still possible that your baby could inherit a genetic disorder, but the chance is extremely small. What does a positive result mean? A positive result tells you that you are a carrier of a genetic disorder, and you could be at risk of having an affected child. In some cases, it is important to find out if your partner is also a carrier.
4 How are genetic disorders inherited? You have two copies of every gene: one copy was inherited from your mother and one copy from your father. A person who has one normal gene and one abnormal gene that can cause a genetic disorder is called a carrier. A carrier is not affected by the disorder, but they can pass on the abnormal gene to future generations. Anyone can be a carrier of a genetic disorder, even if there is no family history. Many times, genetic disorders stay hidden in a family. You could be a carrier and not know it until a child is born with the disease. What if my partner and I are at risk for having a child with a genetic disorder? If you are pregnant, prenatal diagnostic tests can tell you whether your baby is affected by the disorder. There are also options to prevent genetic disorders prior to pregnancy. These options include in vitro fertilization, using a diagnostic test to select healthy embryos for implantation, or using donor eggs or sperm from a person who is not a carrier. Some couples choose to adopt a child. Your doctor or a genetic counselor can discuss these options in greater detail. Is genetic carrier screening required? All testing is optional. The decision to accept or decline genetic carrier screening is completely up to you. You can choose to test for all, some, or none of these disorders.
5 For more information, visit progenity.com Scan this code with your mobile phone to watch a video about genetic carrier testing. Peace of Mind for Patients At Progenity, we believe all patients should have access to the highest-quality genetic tests without the burden of exorbitant medical costs. That s why we offer the Peace of Mind program, which provides payment assistance for patients who are facing financial difficulties. To discuss your options, please call us toll-free at , option S. State Road, Ann Arbor, MI Tel progenity.com Progenity is a CLIA-licensed clinical laboratory and is accredited by the College of American Pathologists (CAP). The information contained in this brochure is provided by Progenity as an educational service for physicians and their patients Progenity, Inc. All rights reserved. Progenity TM is a trademark of Progenity, Inc. REV
Carrier 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 informationCystic Fibrosis. Cystic fibrosis affects various systems in children and young adults, including the following:
Cystic Fibrosis What is cystic fibrosis? Cystic fibrosis (CF) is an inherited disease characterized by an abnormality in the glands that produce sweat and mucus. It is chronic, progressive, and is usually
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 informationA Guide to Prenatal Genetic Testing
Patient Education Page 29 A Guide to Prenatal Genetic Testing This section describes prenatal tests that give information about your baby s health. It is your choice whether or not to have these tests
More informationMarrying a relative. Is there an increased chance that a child will have genetic problems if its parents are related to each other?
Marrying a relative Is there an increased chance that a child will have genetic problems if its parents are related to each other? The simple answer to this question is Yes, there is an increased chance.
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 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 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 informationAbout The Causes of Hearing Loss
About 1 in 500 infants is born with or develops hearing loss during early childhood. Hearing loss has many causes: some are genetic (that is, caused by a baby s genes) or non-genetic (such as certain infections
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 informationThis fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive.
11111 This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive. In summary Genes contain the instructions for
More informationCystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program
Cystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program Introduction: Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and
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 informationDuchenne muscular dystrophy (DMD)
Duchenne muscular dystrophy (DMD) What is Duchenne muscular dystrophy or DMD? Muscular Dystrophy is a group of inherited muscle disorders, in which muscles weaken over time. Duchenne muscular dystrophy
More informationGenetic Testing in Research & Healthcare
We Innovate Healthcare Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research and Healthcare Human genetic testing is a growing science. It is used to study genes
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 informationX Linked Inheritance
X Linked Inheritance Information for Patients and Families 2 X linked Inheritance The following will give you information about what X linked inheritance means and how X linked conditions are inherited.
More informationit right? activity (page 4) to highlight ethical issues associated with IVF
IN VITRO FERTILIZATION I V F In some cases, a sperm is directly injected into an egg IVF: THE MEETING OF SPERM AND EGG IN GLASS Louise Brown, the first test tube baby was born in 1978. Since then, there
More informationChoosing the sex of babies: Ethical debate
Choosing the sex of babies: Ethical debate This activity is designed to get students thinking about the moral and ethical implications of sex selection. The resources will encourage students to form their
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 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 information12.1 The Role of DNA in Heredity
12.1 The Role of DNA in Heredity Only in the last 50 years have scientists understood the role of DNA in heredity. That understanding began with the discovery of DNA s structure. In 1952, Rosalind Franklin
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 informationEthical issues in assisted reproductive technologies. Effy Vayena
Ethical issues in assisted reproductive technologies Effy Vayena Assisted Reproductive Technologies (ART) All treatments or procedures that include the in vitro handling of human oocytes and human sperm
More informationYour newborn baby s blood test
Newborn Screening Free health checks for your baby Your newborn baby s blood test The Newborn Metabolic Screening Programme All babies are checked at birth to see that all is well. Some of your baby s
More informationBRCA Genes and Inherited Breast and Ovarian Cancer. Patient information leaflet
BRCA Genes and Inherited Breast and Ovarian Cancer Patient information leaflet This booklet has been written for people who have a personal or family history of breast and/or ovarian cancer that could
More informationAct of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc
Act of 5 December 2003 No. 100 relating to the application of biotechnology in human medicine, etc Cf. earlier Acts of 5 August 1994 No. 56 and 12 June 1987 No. 68 Chapter 1. Purpose and scope 1-1. Purpose
More informationBalanced. translocations. rarechromo.org. Support and Information
Support and Information Rare Chromosome Disorder Support Group, G1, The Stables, Station Rd West, Oxted, Surrey. RH8 9EE Tel: +44(0)1883 723356 info@rarechromo.org I www.rarechromo.org Balanced Unique
More informationBio EOC Topics for Cell Reproduction: Bio EOC Questions for Cell Reproduction:
Bio EOC Topics for Cell Reproduction: Asexual vs. sexual reproduction Mitosis steps, diagrams, purpose o Interphase, Prophase, Metaphase, Anaphase, Telophase, Cytokinesis Meiosis steps, diagrams, purpose
More informationPregnancy Planning. Eat a nutritious, well-balanced diet
Pregnancy Planning Your health and habits affect a baby from the earliest days of a pregnancy. Before you find out for sure that you are pregnant, a great deal has already happened. Your baby's major organs
More informationAssisted Reproductive Technologies at IGO
9339 Genesee Avenue, Suite 220 San Diego, CA 92121 858 455 7520 Assisted Reproductive Technologies at IGO Although IGO no longer operates an IVF laboratory or program as such, we work closely with area
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 informationPlaying God? The Ethics of Genetic Manipulation
Playing God? The Ethics of Genetic Manipulation Lawrence M. Hinman, Ph.D. Co-Director Center for Ethics in Science & Technology Professor of Philosophy University of San Diego 4/7/2009 Lawrence M. Hinman
More informationLesbian Pregnancy: Donor Insemination
Lesbian Pregnancy: Donor Insemination (Based on an article originally published in the American Fertility Association 2010 National Fertility and Adoption Directory. Much of this information will also
More informationWho is this leaflet about and who is it for? Why would I need to receive donated eggs?
International Egg Recipient Information for Patients and Partners Date of Issue:21.10.15 Doc 578 Issue 04 1 of 10 Who is this leaflet about and who is it for? This leaflet is produced for women who require
More informationPre-implantation Genetic Diagnosis (PGD)
Saint Mary s Hospital Department of Genetic Medicine Saint Mary s Hospital Pre-implantation Genetic Diagnosis (PGD) Information For Patients What is PGD? Pre-implantation genetic diagnosis (PGD) is a specialised
More informationAssignment Discovery Online Curriculum
Assignment Discovery Online Curriculum Lesson title: In Vitro Fertilization Grade level: 9-12, with adaptation for younger students Subject area: Life Science Duration: Two class periods Objectives: Students
More informationConsent for Frozen Donor Oocyte In Vitro Fertilization and Embryo Transfer (Recipient)
Name of Patient: Name of Partner: We, the Patient and Partner (if applicable) named above, are each over the age of twenty-one (21) years. By our signatures below, I/we request and authorize the performance
More informationEmbryo donation families: Do genetic ties matter? Fiona MacCallum & Sarah Keeley
Embryo donation families: Do genetic ties matter? Fiona MacCallum & Sarah Keeley Embryo donation - background An embryo created using sperm and egg of one couple is donated to a second couple 1983 First
More informationConsent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS)
Consent to Perform Preimplantation Genetic Screening (PGS) using Array Comparative Genomic Hybridization (acgh ) or Next Generation Sequencing (NGS) Purpose The purpose of Preimplantation Genetic Screening
More informationInformation for couples where both partners carry Haemoglobin S (sickle cell)
Information for couples where both partners carry Haemoglobin S (sickle cell) Including information on prenatal diagnosis Contacts for prenatal diagnosis centre Couple at risk for Sickle Cell Anaemia Ms
More informationFREQUENTLY ASKED QUESTIONS ABOUT IVF
FREQUENTLY ASKED QUESTIONS ABOUT IVF Is there something we can do to improve our chances of succes? Even though IVF treatment is a medical process on which you have no influence, there are a number of
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 informationPreimplantation Genetic Diagnosis (PGD) in Western Australia
Preimplantation Genetic Diagnosis (PGD) in Western Australia Human somatic cells have 46 chromosomes each, made up of the 23 chromosomes provided by the egg and the sperm cell from each parent. Each chromosome
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 informationIVF OVERVIEW. Tracy Telles, M.D.
IVF OVERVIEW By Tracy Telles, M.D. Dr. Hendler: Hello and welcome to KP Healthcast. I m your host Dr. Peter Hendler and today our guest is Dr. Tracy Telles. Dr. Telles is an IVF physician in Kaiser Walnut
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 informationNeural Tube Defects - NTDs
Neural Tube Defects - NTDs Introduction Neural tube defects are also known as NTDs. They happen when the spine and brain do not fully develop while the fetus is forming in the uterus. Worldwide, there
More informationMaking Sense of Your Genes
1 A Guide to Genetic Counseling Making Sense of Your Genes a Guide to Genetic Counseling Contents What is genetic counseling? 1 Why might I see a genetic counselor? 1 How can I prepare for a genetic counseling
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 informationProstate Cancer Screening. A Decision Guide for African Americans
Prostate Cancer Screening A Decision Guide for African Americans This booklet was developed by the U.S. Department of Health and Human Services, Centers for Disease Control and Prevention (CDC). Published
More informationRobertsonian Translocations
Robertsonian Translocations rarechromo.org Robertsonian translocations A Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together.
More informationPrenatal screening and diagnostic tests
Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are
More informationThe Egg Donor Gestational Surrogacy Program for Single and/or Gay Males at The Fertility Institutes
The Egg Donor Gestational Surrogacy Program for Single and/or Gay Males at The Fertility Institutes The technology and methodology for assisting single males or gay male couples in becoming biological
More informationTrisomy 13 (also called Patau s syndrome or T13)
Screening Programmes Fetal Anomaly Trisomy 13 (also called Patau s syndrome or T13) Information for parents Publication date: April 2012 Review date: April 2013 Version 2 117 Information sheet to help
More informationPrenatal Testing Special tests for your baby during pregnancy
English April 2006 [OTH-7750] There are a number of different prenatal (before birth) tests to check the development of your baby. Each test has advantages and disadvantages. This information is for people
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 informationDeveloping Human Fetus
Period Date LAB. DEVELOPMENT OF A HUMAN FETUS After a human egg is fertilized with human sperm, the most amazing changes happen that allow a baby to develop. This amazing process, called development, normally
More informationyour questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.
your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal
More informationCerebral Palsy. In order to function, the brain needs a continuous supply of oxygen.
Cerebral Palsy Introduction Cerebral palsy, or CP, can cause serious neurological symptoms in children. Up to 5000 children in the United States are diagnosed with cerebral palsy every year. This reference
More informationSummary of the risk management plan (RMP) for Orkambi (lumacaftor and ivacaftor)
EMA/662624/2015 Summary of the risk management plan (RMP) for Orkambi (lumacaftor and ivacaftor) This is a summary of the risk management plan (RMP) for Orkambi, which details the measures to be taken
More information1 ALPHA-1. What is Alpha-1? A family history... of lung disease? of liver disease? FOUNDATION
What is Alpha-1? A family history... of lung disease? of liver disease? What you need to know about Alpha-1 Antitrypsin Deficiency 1 ALPHA-1 FOUNDATION What is Alpha-1? Alpha-1 Antitrypsin Deficiency (Alpha-1)
More informationYouGov / Daily Telegraph Survey Results
YouGov / Daily Telegraph Survey Results YouGov questioned 2432 adults aged 18+ throughout Britain online between 19th and 24nd August 2005 At the moment abortion is legal in Britain up to the 24th week
More informationEducator s Guide to Sickle Cell Disease
Educator s Guide to Sickle Cell Disease Educator s Guide to Sickle Cell Disease Sickle cell disease is an inherited blood disorder affecting about one out of every 350 African Americans. Most children
More informationBone Marrow or Blood Stem Cell Transplants in Children With Certain Rare Inherited Metabolic Diseases *
Bone Marrow or Blood Stem Cell Transplants in Children With Certain Rare Inherited Metabolic Diseases * A Review of the Research for Parents and Caregivers * Wolman Disease, Farber Disease, Niemann-Pick
More informationEgg and sperm donation in the UK: 2012 2013
Egg and sperm donation in the UK: 2012 2013 Contents Introduction 2 Background to this report 2 Terms and acronyms used in this report 4 Methodology 5 How we gathered the data 5 Understanding the data
More informationGOVERNOR PROCLAMATIONS
GOVERNOR PROCLAMATIONS The Administrative Procedure Act (APA) requires the publication of Governor proclamations of general applicability, ceremonial dedications issued by the Governor. * ARIZONA GEAR
More informationHow does genetic testing work?
How does genetic testing work? What is a genetic test? A genetic test looks at to find changes (variants) that cause disease or put you at greater risk to develop disease. DNA is the code our bodies use
More informationCarrier detection tests and prenatal diagnosis
Carrier detection tests and prenatal diagnosis There are several types of muscular dystrophy and about 50 neuromuscular conditions, all of which fall under the umbrella of the Muscular Dystrophy Campaign.
More informationBRCA1 and BRCA2 for men
Oxford University Hospitals NHS Trust Oxford Regional Genetic Department BRCA1 and BRCA2 for men Information for men from families with a known alteration in the BRCA1/2 gene Introduction BRCA1 and BRCA2
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 informationDEVELOPMENTAL SPEECH AND LANGUAGE HISTORY
DEVELOPMENTAL SPEECH AND LANGUAGE HISTORY Parents: This history may appear to be quite long. However, a number of the questions require checking off responses, which can be done quickly. This information
More informationFact Sheet 14 EPIGENETICS
This fact sheet describes epigenetics which refers to factors that can influence the way our genes are expressed in the cells of our body. In summary Epigenetics is a phenomenon that affects the way cells
More informationThe ethical Dilemma About Abortion
Bioethics Glossary in vitro fertilisation A method of assisted reproduction that involves collection of ova (female eggs) and sperm, which are then fertilised in the lab, before implantation in the mother
More informationCerebral palsy can be classified according to the type of abnormal muscle tone or movement, and the distribution of these motor impairments.
The Face of Cerebral Palsy Segment I Discovering Patterns What is Cerebral Palsy? Cerebral palsy (CP) is an umbrella term for a group of non-progressive but often changing motor impairment syndromes, which
More informationOrganic Acid Disorders
Genetic Fact Sheets for Parents Organic Acid Disorders Screening, Technology, and Research in Genetics is a multi-state project to improve information about the financial, ethical, legal, and social issues
More informationCerebral Palsy. 1995-2014, The Patient Education Institute, Inc. www.x-plain.com nr200105 Last reviewed: 06/17/2014 1
Cerebral Palsy Introduction Cerebral palsy, or CP, can cause serious neurological symptoms in children. Thousands of children are diagnosed with cerebral palsy every year. This reference summary explains
More informationin vitro Fertilization (IVF)
Should an age limit be imposed on in vitro fertilization? Amanda Caster, Rong Hu, John Brothers II, and Barry Sexton Bioengineering and Bioinformatics Summer Institute 2005 University of Pittsburgh, Carnegie
More informationNewborn Screening Test
Important Information for Parents about the Newborn Screening Test Newborn Screening Branch Genetic Disease Screening Program http://cdph.ca.gov/nbs California Department of Public Health Publication Date:
More informationUsher Syndrome Genetics
Usher Syndrome Genetics October 2012 Page 1 of 20 Introduction Usher syndrome is a genetic or inherited condition that affects hearing, vision and balance The sight loss is caused by an eye condition known
More informationPatient Support Guide
Patient Support Guide to genetic testing for hereditary breast and ovarian cancer syndrome Testing for BRCA1 and BRCA2 is available from Quest Diagnostics. Quest Diagnostics Patient Support Guide to Genetic
More informationHow to choose an IVF clinic and understand success rates: Questions to ask when choosing an IVF clinic.
Australia s National Infertility Network How to choose an IVF clinic and understand success rates: Questions to ask when choosing an IVF clinic. updated 26 05 2015 20 The information contained here is
More informationNational Down Syndrome Society
National Down Syndrome Society The national advocate for the value, acceptance and inclusion of people with Down syndrome What is Down Syndrome? Down syndrome is the most commonly occurring chromosomal
More informationMycophenolate mofetil (CellCept ): risks of miscarriage and birth defects. Patient guide. Key points to remember
Mycophenolate (CellCept ): risks of miscarriage and birth defects Patient guide Key points to remember Mycophenolate (CellCept ) causes birth defects and miscarriages Follow the contraceptive advice given
More informationREQUEST FOR IMAGe SYNDROME TESTING
REQUEST FOR IMAGe SYNDROME TESTING Please provide the following information. We cannot perform your test without ALL of this information. PLEASE PRINT ALL ANSWERS PATIENT INFORMATION* FIRST NAME MI LAST
More informationGenetics and Pregnancy Loss
Genetics and Pregnancy Loss Dorothy Warburton Genetics and Development (in Pediatrics) Columbia University, New York Estimates of Pregnancy Loss from Conception 1000 fertilized eggs (27% are lost) 728
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 informationFertility Facts and Figures 2008
Fertility Facts and Figures 2008 Contents About these statistics... 2 Accessing our data... 2 The scale of fertility problems... 3 Treatment abroad... 3 Contacts regarding this publication... 3 Latest
More informationInfluences on Birth Defects
Influences on Birth Defects FACTS About 150,000 babies are born each year with birth defects. The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There
More informationAlzheimer s disease and diabetes
1007029 CM1053CS Alzheimer s disease and diabetes Nearly 21 million Americans in the United States have diabetes, a disease that makes the body less able to convert sugar to energy. More than 6 million
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 informationThank you for making a reproductive genetic counseling appointment at the Mount Sinai Medical Center.
Division of Medical Genetics Department of Genetics and Genomic Sciences Mailing address: One Gustave L. Levy Place, Box 1497 New York, NY 10029-6574 Patient Address: 1428 Madison Avenue (at 99th Street)
More informationRigid spine syndrome (RSS) (Congenital muscular dystrophy with rigidity of the spine, including RSMD1)
Rigid spine syndrome (RSS) (Congenital muscular dystrophy with rigidity of the spine, including RSMD1) What is RSMD1? The congenital muscular dystrophies are a group of conditions which share early presentation
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 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 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 informationCONSENT TO PARTICIPATE IN THE IN VITRO FERTILIZATION-EMBRYO TRANSFER PROGRAM
CONSENT TO PARTICIPATE IN THE IN VITRO FERTILIZATION-EMBRYO TRANSFER PROGRAM I, after consultation with my physician, request to participate in the In Vitro Fertilization (IVF)-Embryo Transfer (ET) procedures
More informationExercise. Good Weight A PT E R. Staying Healthy
Eat Healthy Foods Keep at a Good Weight Exercise Don t Smoke Get Regular Checkups Take Care of Stress A PT E R CH Staying Healthy 6 81 How Can I Stay Healthy? You can do many things to prevent poor health
More informationPreterm Labour. Signs & Symptoms. Learn about the signs of preterm labour and what to do if it happens.
An important message for pregnant women, their partners and families Preterm Labour Signs & Symptoms Learn about the signs of preterm labour and what to do if it happens. What is preterm labour? A normal,
More informationThe Genetics of Beckwith Wiedemann Syndrome (BWS)
The Genetics of Beckwith Wiedemann Syndrome (BWS) Introduction Beckwith Wiedemann Syndrome (BWS) is an overgrowth disorder caused by changes in the activity of growth promoting and growth suppressing genes.
More information