GENETICS QUESTIONNAIRE & CONSENT FORM

Size: px
Start display at page:

Download "GENETICS QUESTIONNAIRE & CONSENT FORM"

Transcription

1 Name (F) Name (M) GENETICS QUESTIONNAIRE & CONSENT FORM DOB: DOB: ***Please answer the following questions about yourself, your partner and your related family members with as much detail as possible. CONDITIONS: YES NO Specify what and who Chromosomal abnormalities, translocation disorders Cleft palate or other birth defects Open spinal defect (e.g. spina bifida, anencephaly, hydrocephalus) Blood disorders or bleeding disorders: (e.g. Factor V Leiden, Protein C deficiency, Hemophilia, sickle cell anemia disease or trait, Thalassemia) Muscle or neurological disease (e.g. muscular dystrophy, Huntington disease) carrier or disease Heart defect at birth Mental retardation, Down s Syndrome, Autism, Fragile X syndrome Stillbirth, or three or more pregnancy losses Developmental delay or learning disabilities Cancers- especially before age 21, ovarian cancer before age 50 Insulin dependent diabetes, PKU, lupus, other chronic conditions Kidney disease before age 40 Premature menopause before age 40 Any known infertility issues (complete absence of sperm, tubes, etc.) ***Please list any other familial, inherited disorder or chromosomal disease that may not be listed above that you have knowledge of, OR use this space to be more detailed about your answers above.

2 CHROMOSOMAL DISORDERS Genetic disease may be caused by abnormal chromosomes. Normally, each parent passes on 23 chromosomes to their child, resulting in a total of 46 chromosomes. Each chromosome is made up of many genes. If an embryo is formed with too many, too few, or damaged chromosomes, then the embryo/pregnancy may not be viable and may result in a miscarriage. However, if a child is born with one of these abnormalities, then they may have a genetic disorder. An example of this is Down syndrome, which results from an extra copy of chromosome 21. The risk of having a child with a chromosomal disorder increases with increasing maternal age. During your pregnancy, you will be offered screening tests to see if your fetus is at increased risk of having a chromosomal disorder. If you are interested in seeing a genetics counselor BEFORE you conceive in order to better understand your risk of having a child with a chromosomal disorder, please let us know. -Are you and your partner related by blood? Y N UNSURE *If YES, please explain relationship: -In any previous relationship(s)/marriage(s) have you or your partner had a child born with a birth defect or had a pregnancy or child diagnosed with Down Syndrome? Y N UNSURE *If YES, please explain: -Have you ever had any genetic screening or testing completed? Y N UNSURE *If YES, please note results & date below: -Have you ever had chromosome analysis? Y N UNSURE *If YES, please note results & date below: -Have you or anyone in your families had serious medical conditions in infancy or childhood not listed previously? Y N UNSURE *If YES, please give details below:

3 PRECONCEPTION CARRIER SCREENING- Genetic diseases can be caused by abnormal genes that are passed from one or both parents to their children. Depending on the type of disease, it may result from inheriting either one abnormal gene (from one parent) or two abnormal genes (one from each parent). Preconception carrier screening allows couples to learn about their chances of having a baby with some of these genetic disorders. Preconception carrier screening involves testing to see if you or your partner is a carrier of a certain genetic disorder, meaning that you do not have the disease but that you have a gene for that disorder that you could pass on to your child. Carrier screening can be done before pregnancy, during pregnancy, or in children after delivery if they are suspected of having a certain disorder. The potential benefits of screening earlier are that you may have a broader range of options and/or more time to make decisions. Carrier screening is available for a number of genetic disorders. If you are at increased risk of any particular disorder(s) either due to a family history of the disorder or due to your ethnicity, then you may want to consider carrier screening. The American College of Obstetricians and Gynecologists recommends that cystic fibrosis screening be offered to all women of reproductive age once during their lifetime. ***Some genetic conditions occur more commonly in certain racial and ethnic groups. ESTIMATED CARRIER FREQUENCIES BASED ON ETHNIC ORIGIN POPULATION: CONDITION: CARRIER FREQUENCY: African-American Sickle Cell 1 in 10 1 in 65 1 in 75 Ashkenazi Jewish Gaucher disease Dysautonomia 1 in 15 1 in 26-1 in 29 1 in 30 1 in 32 1 in 40 Asian Alpha-Thalassemia 1 in 20 1 in 50 European American 1 in 25-1 in 29 French Canadian, Cajun 1 in 30 Hispanic 1 in 46 1 in 30-1 in 50 Mediterranean Sickle Cell 1 in 25 1 in 29 1 in 40

4 ANCESTRY: ***Please answer the following questions about your ethnic backgrounds and any genetic testing or carrier screening you may have had. *** Female Check all that apply Yes Have you had carrier testing for: No Yes Unsure If you had testing, what were the results? Date of testing? Caucasian? Italian, Greek, Indian, Middle Eastern? Southeast Asian, Taiwanese, Chinese, Philipino? African, African- Sickle-cell trait American, Caribbean, Hispanic? Jewish, French Canadian, Cajun? Ashkenazi Jewish? Male Check all that apply Yes Have you had carrier testing for: Caucasian? Italian, Greek, Indian, Middle Eastern? Southeast Asian, Taiwanese, Chinese, Philipino? African, African- Sickle-cell trait American, Caribbean, Hispanic? Jewish, French Canadian, Cajun? Ashkenazi Jewish? No Yes Unsure If you had testing, what were the results? Date of testing?

5 Do you have any further history or concerns not previously mentioned that may affect your pregnancy or children? ***Please initial after each number and sign at the bottom of the page. 1. I/We have received copies of the Genetic Screening for Birth Defects fact sheet by ASRM (see next page) and understand that it provides a brief, general description of reasons to seek testing/counseling. 2. I/We understand that for carrier screening: a. The test(s) are for an abnormality in the genes, for disorder(s), using DNA analysis. b. The purpose of testing is to determine a carrier status (unaffected but able to pass the abnormal gene onto a child by inheritance) c. The test(s) are for genetic susceptibility and that the risk of having the disorder may be altered by family history and/or other factors. If the test(s) are positive for the disorder(s) or for an increased risk of the disorder(s), you may wish to have further independent testing or genetic counseling. d. The result of the above testing becomes part of your medical record and may be made available to individuals/organizations with legal access to your medical record, on a strict need-to-know basis. 3. I/We understand that even with a negative family history and/or normal testing, we may still have a child with a genetic or chromosomal disorder. 4. I/We (circle one) desire/do not desire further genetic counseling and/or testing. We are interested in the following tests and/or have the following questions: DATE: PATIENT S NAME: SIGNATURE: PARTNER S NAME: SIGNATURE: RN who reviewed the form: DATE: MD who reviewed the form: DATE:

6 Some additional resources online include For further information, please discuss with us further or ask your physician at home to determine your risks and desires for testing, as applicable.

Carrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner)

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 information

A Guide to Prenatal Genetic Testing

A 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 information

Thank you for making a reproductive genetic counseling appointment at the Mount Sinai Medical Center.

Thank 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 information

Optional Tests Offered Before and During Pregnancy

Optional 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 information

Obstetrical Ultrasound and Prenatal Diagnostic Center

Obstetrical 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 information

Pregnancy Care. Pregnancy and Childbirth Patient Education Information. Women s Health Program. Obstetrics and Gynecology

Pregnancy Care. Pregnancy and Childbirth Patient Education Information. Women s Health Program. Obstetrics and Gynecology Pregnancy and Childbirth Patient Education Information Women s Health Program Table of Contents: How Often Should My Baby Move?...3 Kick Counts......3 How To Do a Kick Count...3 Genetic Screening Tests...5

More information

B R U C E K. L I N, M P H B E C O M I N G A M O M / C O M E N Z A N D O B I E N T R A I N I N G J A N U A R Y 1 4, 2 0 1 3 3 4 5 P M

B R U C E K. L I N, M P H B E C O M I N G A M O M / C O M E N Z A N D O B I E N T R A I N I N G J A N U A R Y 1 4, 2 0 1 3 3 4 5 P M Understanding the Importance of Your Family Health History B R U C E K. L I N, M P H B E C O M I N G A M O M / C O M E N Z A N D O B I E N T R A I N I N G J A N U A R Y 1 4, 2 0 1 3 3 4 5 P M Disclosures

More information

Marrying 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? 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 information

Genetic Testing in Research & Healthcare

Genetic 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 information

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Patient Education intermountainhealthcare.org A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Most news is good news. Most babies are born without major birth defects. Early in your pregnancy,

More information

Pregnancy Planning. Eat a nutritious, well-balanced diet

Pregnancy 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 information

Influences on Birth Defects

Influences 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 information

Each 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.

Each 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 information

What 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 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 information

Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient

Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient Britton Rink, MD, MS The Ohio State University Division of Maternal Fetal Medicine ACOG Practice Bulletin January 2007 Screening

More information

UNIT 13 (OPTION) Genetic Abnormalities

UNIT 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 information

Genetic 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. 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 information

Preimplantation Genetic Diagnosis. Evaluation for single gene disorders

Preimplantation 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 information

Preimplantation Genetic Diagnosis (PGD) in Western Australia

Preimplantation 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 information

REQUEST FOR IMAGe SYNDROME TESTING

REQUEST 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 information

ORIGINAL BIRTH CERTIFICATE INFORMATION

ORIGINAL BIRTH CERTIFICATE INFORMATION CONTACT PREFERENCE A A birth parent of an adopted person may submit a Contact Preference document to the State Registrar indicating his or her preference regarding contact with the adopted individual.

More information

patient education Fact Sheet PFS007: BRCA1 and BRCA2 Mutations MARCH 2015

patient 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

What is Thalassemia Trait?

What is Thalassemia Trait? What is Thalassemia Trait? Introduction Being tested for the thalassemia trait is easy This book contains basic information about the thalassemia trait. Whether you have been diagnosed with the thalassemia

More information

Patient Information. for Childhood

Patient 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 information

First Trimester Screening for Down Syndrome

First Trimester Screening for Down Syndrome First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test

More information

For the full report please visit the Victorian Birth Defects Register Website:

For the full report please visit the Victorian Birth Defects Register Website: Summary of ten most frequently reported birth defects in Victoria 2003-2004 The Victorian Birth Defects Register has collected information on birth defects in all reported pregnancies occurring in Victoria

More information

Known Donor Questionnaire

Known Donor Questionnaire Known Donor Questionnaire Your donor s answers to these questions will provide you with a wealth of information about his health. You ll probably need assistance from a health care provider to interpret

More information

Breast and Ovarian Cancer

Breast and Ovarian Cancer Breast and Ovarian Cancer Hereditary Breast and Ovarian Cancer A Guide for Patients KNOWING WHAT TO LOOK FOR KNOWING WHERE TO LOOK AND KNOWING WHAT IT MEANS Hereditary Breast and Ovarian Cancer What is

More information

Information for Your Patients

Information for Your Patients Information for Your Patients What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test offered to women

More information

Making Sense of Your Genes

Making 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 information

Mendelian inheritance and the

Mendelian 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 information

This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive.

This 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 information

Cystic Fibrosis. Cystic fibrosis affects various systems in children and young adults, including the following:

Cystic 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 information

Prenatal screening and diagnostic tests

Prenatal 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 information

Genetics of Turner syndrome. Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics

Genetics of Turner syndrome. Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics Genetics of Turner syndrome Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics National Centre for Medical Genetics Clinical Genetics Cytogenetics Molecular Genetics www.genetics.ie

More information

FERTILITY AND AGE. Introduction. Fertility in the later 30's and 40's. Am I fertile?

FERTILITY AND AGE. Introduction. Fertility in the later 30's and 40's. Am I fertile? FERTILITY AND AGE Introduction Delaying pregnancy is a common choice for women in today's society. The number of women in their late 30s and 40s attempting pregnancy and having babies has increased in

More information

The Developing Person Through the Life Span 8e by Kathleen Stassen Berger

The 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 information

6. Is there a known association of specific types of breast cancer and BRCA gene mutations? a. Specifically inflammatory breast cancer

6. Is there a known association of specific types of breast cancer and BRCA gene mutations? a. Specifically inflammatory breast cancer What s Jewish about BRCA? It is estimated that about one in 40 individuals with Ashkenazi Jewish ancestry has one of these three BRCA mutations. Approximately one in 10 women with breast cancer and one

More information

Understanding Your Risk of Ovarian Cancer

Understanding 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 information

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

CHROMOSOMES 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 information

Table. List of Currently Reportable Birth Defects and the Corresponding ICD-9-CM and ICD-10-CM Codes

Table. List of Currently Reportable Birth Defects and the Corresponding ICD-9-CM and ICD-10-CM Codes Addendum 4: List of Notifiable conditions and ICD9/ICD10 Codes BIRTH DEFECTS CASE DEFINITION FOR SURVEILLANCE Case definition Case definition for Washington State Birth Defects Surveillance System is based

More information

Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD

Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD Responsible Party Telephone Number Date Name of Child Date of Birth Time of Birth Sex Resident County Placement County

More information

GENETIC COUNSELING IS IT A CAREER FOR YOU? Judith L Miller, MS, LGC April 8, 2014

GENETIC COUNSELING IS IT A CAREER FOR YOU? Judith L Miller, MS, LGC April 8, 2014 GENETIC COUNSELING IS IT A CAREER FOR YOU? Judith L Miller, MS, LGC April 8, 2014 What is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives. Most

More information

PATIENT INFORMATION MEMO. Name: Birthdate: Age: Last First M. Initial Address: Apt#: City: State: Zip: Race/Primary Language/Ethnicity:

PATIENT INFORMATION MEMO. Name: Birthdate: Age: Last First M. Initial Address: Apt#: City: State: Zip: Race/Primary Language/Ethnicity: REGIONAL OBSTETRIC CONSULTANTS Ramon A. Castillo, M.D. Gerardo O. Del Valle, M.D. Francisco L Gaudier, M.D. Kathryn S. Villano, M.D. Joann G Acuna, M.D Edgard E. Ramos-Santos, M.D. Walter J. Morales, M.D.

More information

Neural Tube Defects - NTDs

Neural 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 information

Weight-Loss. Surgery.

Weight-Loss. Surgery. Weight-Loss Surgery &Infertility www.malleysurgical.com CONTENTS The link between weight and infertility Risks associated with weight and pregnancy Benefits of weight-loss surgery before pregnancy The

More information

Willow Bend OB/GYN Obstetrics, Gynecology & Infertility

Willow Bend OB/GYN Obstetrics, Gynecology & Infertility Dear Patient, We welcome you and your family to our office. While every pregnancy is different our goal is always the same; to have a healthy baby and mother. To better care for your pregnancy, we kindly

More information

Communicating with Families about Family History and Genetics

Communicating 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 information

Empowering accurate genetic answers for IVF clinics. Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) solutions.

Empowering accurate genetic answers for IVF clinics. Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) solutions. Empowering accurate genetic answers for IVF clinics. Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) solutions. Uncovering answers for informed choices. Illumina is

More information

Noninvasive prenatal screen for pregnancy

Noninvasive prenatal screen for pregnancy Noninvasive prenatal screen for pregnancy What is QNatal TM Advanced Noninvasive Prenatal Screening? The QNatal Advanced prenatal screen is a noninvasive test that provides a high degree of accuracy for

More information

REI Pearls: Pitfalls of Genetic Testing in Miscarriage

REI 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 information

Intra-Cytoplasmic Sperm Injection (ICSI)

Intra-Cytoplasmic Sperm Injection (ICSI) Saint Mary s Hospital Department of Reproductive Medicine Intra-Cytoplasmic Sperm Injection (ICSI) Information For Patients INS/DRM/CLI/018 V5/01/11/2013 2 Contents Page What is ICSI and why is it necessary?

More information

A test your patients can trust.

A 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 information

Breast Cancer s Link to Ovarian Cancer: It s in Your Genes. foundationforwomenscancer.org

Breast Cancer s Link to Ovarian Cancer: It s in Your Genes. foundationforwomenscancer.org Breast Cancer s Link to Ovarian Cancer: It s in Your Genes foundationforwomenscancer.org There are now more than 2.6 million women in America who have been diagnosed with breast cancer. A very small fraction

More information

Genetic Aspects of Mental Retardation and Developmental Disabilities

Genetic Aspects of Mental Retardation and Developmental Disabilities Prepared by: Chahira Kozma, MD Associate Professor of Pediatrics Medical Director/DCHRP Kozmac@georgetown.edu cck2@gunet.georgetown.edu Genetic Aspects of Mental Retardation and Developmental Disabilities

More information

University 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. 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 information

CCS - Does CCS provide Counseling or Support Services? CCS - Are there any costs to me? CCS - What papers should I bring?

CCS - Does CCS provide Counseling or Support Services? CCS - Are there any costs to me? CCS - What papers should I bring? CCS - Does CCS provide Counseling or Support Services? CCS - Are there any costs to me? CCS - What papers should I bring? CCS - What are the steps to CCS services? CCS - How is my privacy protected? CCS

More information

LEUKODYSTROPHY 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 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 information

Pennsylvania Adoption Information Registry Adoptee Authorization to Release Information and Registration Form

Pennsylvania Adoption Information Registry Adoptee Authorization to Release Information and Registration Form Completing this form is voluntary. However, we encourage you to provide as much information as you can. You may choose to: 1. release information that will identify you to your birth parents or other family

More information

Human Karyotyping Lab #

Human Karyotyping Lab # Human Karyotyping Lab # Background: Occasionally chromosomal material is lost or rearranged during the formation of gametes or during cell division of the early embryo. Such changes, primarily the result

More information

Genetic Disorder Brochure Project

Genetic Disorder Brochure Project Genetic Disorder Brochure Project (modified from a project found on the Robbinsdale School District website) Overview Create a tri-fold brochure for a doctor s office waiting room. The brochure should

More information

Heredity and Prenatal Development: Chapter 3

Heredity and Prenatal Development: Chapter 3 Genetics 1 DEP 4053 Christine L. Ruva, Ph.D. Heredity and Prenatal Development: Chapter 3 PRINCIPLES OF HEREDITARY TRANSMISSION Genotype Phenotype Chromosomes: in the nucleus of the cell store and transmit

More information

Xytex Donor Profile: 5340

Xytex Donor Profile: 5340 Xytex Donor Profile: 5340 Basic Version Profile prepared on Wednesday September 21, 2016 For More Information Contact Us Website: www.xytex.com Email: info@xytex.com Phone: 1.800.277.3210 Xytex Donor Profile

More information

In - Vitro Fertilization Handbook

In - Vitro Fertilization Handbook In - Vitro Fertilization Handbook William F. Ziegler, D.O. Medical Director Scott Kratka, ELD, TS Embryology Laboratory Director Lauren F. Lucas, P.A.-C, M.S. Physician Assistant Frances Cerniak, R.N.

More information

IVF OVERVIEW. Tracy Telles, M.D.

IVF 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 information

Medical Matters Action Checklists

Medical Matters Action Checklists Medical Matters Action Checklists The following Action Checklists are included in Chapter 5: Medical History Personal Medication Record Health Care Power of Attorney Medical Orders (Do Not Resuscitate/POLST)

More information

This disorder affects all races and regions of the world equally. There are no known environmental risks for Turner syndrome.

This disorder affects all races and regions of the world equally. There are no known environmental risks for Turner syndrome. Turner Syndrome Introduction Turner syndrome is a genetic disorder that affects a girl's development. Girls who have it are short, and most are infertile. Girls and women with Turner syndrome are at risk

More information

BRCA1 & BRCA2 GeneHealth UK

BRCA1 & BRCA2 GeneHealth UK BRCA1 & BRCA2 GeneHealth UK BRCA1 & BRCA2 What is hereditary breast cancer? Cancer is unfortunately very common, with 1 in 3 people developing cancer at some point in their lifetime. Breast cancer occurs

More information

Consent for Frozen Donor Oocyte In Vitro Fertilization and Embryo Transfer (Recipient)

Consent 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 information

The more varied population is older because the mtdna has had more time to accumulate mutations.

The more varied population is older because the mtdna has had more time to accumulate mutations. Practice problems (with answers) This is the degree of difficulty of the questions that will be on the test. This is not a practice test because I did not consider how long it would take to finish these

More information

information for patients Turner Syndrome ENETICS CLINICA L G L A G C I N E I L N C E T S C I

information for patients Turner Syndrome ENETICS CLINICA L G L A G C I N E I L N C E T S C I information for patients Turner Syndrome CCLINICAL GENETICS LINICAL GENETICS PROOF Introduction Humans are usually born with 46 chromosomes, which are arranged in 23 pairs. One of each pair of chromosomes

More information

MALE PATIENT: U.S. THIS FORM MUST BE COMPLETED BY ANY MALE PATIENT WHO WILL RECEIVE MEDICAL TREATMENT AND/OR EVALUATION. 877.324.4483 fcionline.

MALE PATIENT: U.S. THIS FORM MUST BE COMPLETED BY ANY MALE PATIENT WHO WILL RECEIVE MEDICAL TREATMENT AND/OR EVALUATION. 877.324.4483 fcionline. MALE PATIENT: U.S. MPI# THIS FORM MUST BE COMPLETED BY ANY MALE PATIENT WHO WILL RECEIVE MEDICAL TREATMENT AND/OR EVALUATION. Patient Information Demographics Name (last, first, middle initial) please

More information

PUBLIC HEALTH IMPROVEMENT PARTNERSHIP

PUBLIC HEALTH IMPROVEMENT PARTNERSHIP PUBLIC HEALTH IMPROVEMENT PARTNERSHIP PUBLIC HEALTH ACTIVITIES & SERVICES INVENTORY TECHNICAL NOTES HEALTHY FAMILY DEVELOPMENT Nurse-Family Partnership Nurse-Family Partnership is a voluntary program of

More information

Are You at Risk for Ovarian Cancer?

Are You at Risk for Ovarian Cancer? Are You at Risk for Ovarian Cancer? A Woman s Guide Read this brochure to learn more about ovarian cancer symptoms, risk factors and what you can do to reduce your risk. ALL WOMEN HAVE SOME RISK OF OVARIAN

More information

Men s consent to treatment and storage form (IVF and ICSI)

Men s consent to treatment and storage form (IVF and ICSI) Men s consent to treatment and storage form (IVF and ICSI) HFEA MT form About this form This form is produced by the Human Fertilisation and Embryology Authority (HFEA), the UK s independent regulator

More information

Educator s Guide to Sickle Cell Disease

Educator 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 information

Genetics Copyright, 2009, by Dr. Scott Poethig, Dr. Ingrid Waldron, and Jennifer Doherty Department of Biology, University of Pennsylvania 1

Genetics Copyright, 2009, by Dr. Scott Poethig, Dr. Ingrid Waldron, and Jennifer Doherty Department of Biology, University of Pennsylvania 1 Genetics Copyright, 2009, by Dr. Scott Poethig, Dr. Ingrid Waldron, and Jennifer Doherty Department of Biology, University of Pennsylvania 1 We all know that children tend to resemble their parents in

More information

Shelly K. Clark, DDS Dentistry For Children

Shelly K. Clark, DDS Dentistry For Children Shelly K. Clark, DDS Dentistry For Children Patient Last Name, First Name Middle Date of Birth Goes by: Whom may we thank for referring you to our office? Age: Male / Female Who is accompanying the child

More information

Genetic Counseling: What is it? Who does it?

Genetic Counseling: What is it? Who does it? Genetic Counseling: What is it? Who does it? Judith Tsipis, PhD Director, Genetic Counseling Program Brandeis University June 2007 With special thanks to Nathalie McIntosh, CGC, CCGC, for sharing her expertise

More information

Gene Therapy and Genetic Counseling. Chapter 20

Gene 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 information

CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE. Section B: Sex Chromosomes

CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE. Section B: Sex Chromosomes CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE Section B: Sex Chromosomes 1. The chromosomal basis of sex varies with the organism 2. Sex-linked genes have unique patterns of inheritance 1. The chromosomal

More information

Donor Insemination (DI) Page 1 of 5

Donor Insemination (DI) Page 1 of 5 Donor Insemination (DI) Page 1 of 5 Donor insemination is the process of intrauterine insemination with donor sperm to achieve a pregnancy. It involves placement of previously frozen, anonymously donated

More information

Hereditary Breast and Ovarian Cancer [1]

Hereditary Breast and Ovarian Cancer [1] Home > Types of Cancer > Hereditary Breast and Ovarian Cancer PDF generated on September 4, 2016 from http://www.cancer.net/es/node/18922 Hereditary Breast and Ovarian Cancer [1] What is Hereditary Breast

More information

Inheritance Patterns and Human Genetics. Chapter 12. Table of Contents. Section 1 Chromosomes and Inheritance Section 2 Human Genetics

Inheritance Patterns and Human Genetics. Chapter 12. Table of Contents. Section 1 Chromosomes and Inheritance Section 2 Human Genetics Inheritance Patterns and Human Genetics Table of Contents Section 1 Chromosomes and Inheritance Section 1 Chromosomes and Inheritance Objectives Distinguish between sex chromosomes and autosomes. Explain

More information

Assisted Reproductive Technologies at IGO

Assisted 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 information

IN VITRO FERTILIZATION (IVF) INFORMATION PACKAGE Form # CFRH -102 (13-Dec-2013)

IN VITRO FERTILIZATION (IVF) INFORMATION PACKAGE Form # CFRH -102 (13-Dec-2013) Centre for Fertility & Reproductive Health 250 Dundas St W., Suite 700 Toronto, ON M5T 2Z5 tel: 416-586-4748; fax: 416-586-4686 IN VITRO FERTILIZATION (IVF) INFORMATION PACKAGE Form # CFRH -102 (13-Dec-2013)

More information

The Facts What is the BRCA Gene?

The Facts What is the BRCA Gene? The Facts Breast cancer affects 1 in 8 women in the United States. Hereditary breast cancer accounts for approximately 5-10% of these breast cancers. Most cases of breast cancer are sporadic. Ovarian cancer

More information

The ABCDE S to Envisioning a Healthy Future. A Guide to Preconception Health

The ABCDE S to Envisioning a Healthy Future. A Guide to Preconception Health The ABCDE S to Envisioning a Healthy Future A Guide to Preconception Health Developing Healthy Lifestyles is Important Because 49% of Pregnancies are Unplanned A woman s health and the health of her infant

More information

In Vitro Fertilization. New England Fertility

In Vitro Fertilization. New England Fertility In Vitro Fertilization New England Fertility In Vitro Fertilization New England Fertility offers a wide variety of infertility treatments to individuals and couples struggling to conceive, including in

More information

New York Reproductive Wellness Female Medical History & Information

New York Reproductive Wellness Female Medical History & Information New York Reproductive Wellness Female Medical History & Information Please complete this form prior to your meeting with the doctor. Leave blank anything that does not apply to you, that you have questions

More information

Genetics and Pregnancy Loss

Genetics 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 information

Chapter 4 Pedigree Analysis in Human Genetics. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning

Chapter 4 Pedigree Analysis in Human Genetics. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning Chapter 4 Pedigree Analysis in Human Genetics Mendelian Inheritance in Humans Pigmentation Gene and Albinism Fig. 3.14 Two Genes Fig. 3.15 The Inheritance of Human Traits Difficulties Long generation time

More information

Objectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL

Objectives 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 information

Human Mendelian Disorders. Genetic Technology. What is Genetics? Genes are DNA 9/3/2008. Multifactorial Disorders

Human Mendelian Disorders. Genetic Technology. What is Genetics? Genes are DNA 9/3/2008. Multifactorial Disorders Human genetics: Why? Human Genetics Introduction Determine genotypic basis of variant phenotypes to facilitate: Understanding biological basis of human genetic diversity Prenatal diagnosis Predictive testing

More information

Genetic 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 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 information

Escondido OB-GYN Medical Group, Inc. dba. 488 East Valley Parkway, Escondido, CA 92025

Escondido OB-GYN Medical Group, Inc. dba. 488 East Valley Parkway, Escondido, CA 92025 We appreciate you choosing North County Women s Specialists for your healthcare needs. We continually strive to provide the highest quality gynecologic and obstetric healthcare in a professional caring

More information

Mutations & DNA Technology Worksheet

Mutations & DNA Technology Worksheet Mutations & DNA Technology Worksheet Name Section A: Mutations Mutations are changes in DNA. Somatic mutations occur in non-reproductive cells and won't be passed onto offspring. Mutations that occur in

More information

Innovators in Reproductive Genetics

Innovators in Reproductive Genetics ANEUPLOIDY DIAGNOSTICS DIAGNOSTICS EXCELLENCE 6182 DIAGNOSTICS PERFORMED OVER 10 YEARS OF EXPERIENCE PGS-NGS 360 PGD DIAGNOSIS SINCE 2005 TRANSLOCATION DIAGNOSIS NEXT GENERATION SEQUENCING Innovators in

More information

Mycophenolate mofetil (CellCept ): risks of miscarriage and birth defects. Patient guide. Key points to remember

Mycophenolate 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 information

Consent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS)

Consent 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 information