New Prenatal Tests for Down Syndrome: Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital
|
|
|
- Phillip McCarthy
- 8 years ago
- Views:
Transcription
1 New Prenatal Tests for Down Syndrome: International Updates and What This All Means for Your Family Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital Band of Angels Foundation
2 Goals Review the current and upcoming Down syndrome prenatal tests Review the international efforts regarding prenatal testing. Review what you can be doing
3 Down Syndrome Trisomy, chromosome 21 Translocation, 14 and 21 Mosaicism, chromosome 21 1 / 691 children About 400,000 families in US About 5,000 children born / yr (National Down Syndrome Society & CDC) Band of Angels Foundation
4 Prenatal Diagnosis Old recommendation: all pregnant women over the age of 35 be offered an amniocentesis 1978: National Institutes of Health (NIH) 1983: American Academy of Pediatrics & American College of Obstetrics and Gynecology New recommendation: screening and invasive diagnostic testing should be available to all women... regardless of age. 2007: American College of Obstetrics and Gynecology 2008: American College of Medical Genetics
5 Prenatal Diagnosis of Down syndrome Prenatal Screening* Triple Screen: (βhcg, AFP, ue 3 ) Quadruple Screen: (βhcg, AFP, ue 3, inhibin-a) Prenatal Diagnosis Chorionic Villus Sampling: ~99.9% (10-14 weeks, 1% spont termin) Amniocentesis: ~99.9% (after 15 th week; 0.25% spont term) First-trimester Combined: (Ultrasound, βhcg, PAPP- A) Integrative Screen: Sequential Screen: Independent Stepwise Contingent * NEJM (2005), 353:
6
7
8
9
10 Sensitivity: 100% Specificity: 97.9% PPV: 96.6% NPV: 100% N = 312, 2-plex
11 Sensitivity: 100% Specificity: 99.7% PPV: 97.5% NPV: 100% N = 449, 4-plex
12 Sensitivity: 98.6% Specificity: 99.8% PPV: 98.6% NPV: 99.6% N = 1683, 4-plex Insufficient samples: 2.5% Failed test: 0.8%
13 TRISOMY 18 TRISOMY 13 Sensitivity: 100% Specificity: 99.7% PPV: 92.2% NPV: 100% Failed test: 0.9% N = 1747, 4-plex Sensitivity: 91.7% Specificity: 99.1% PPV: 40.7% NPV: 99.9% Failed test: 0.9% N = 1700, 4-plex
14 Sequenom
15 Verinata
16 Ariosa
17 Natera
18 Shotgun Sequencing: cfdna Risk: A simple blood test, no risk to the fetus Accuracy: 99% sens, 99% spec; 99% PPV; 99% NPV Eligibility: 100% of the population will be eligible for the test Timing: performed as early as 10 weeks of gestation Availability: commercially available right now by 3 companies to women considered high-risk pregnancies Cost: Costs no more than $235 out-of-pocket expenses Turn-around time: ~10 days Advantages: will pick up trisomy 21, translocation, and high-level mosaicism; will also report extra genetic material from chromosomes 13 and 18
19 Prenatal Diagnosis of Down syndrome Prenatal Screening* Triple Screen: 69% (βhcg, AFP, ue 3 ) Quadruple Screen: 81% (βhcg, AFP, ue 3, inhibin-a) Prenatal Diagnosis Chorionic Villus Sampling: ~99.9% (10-14 weeks, 1% spont termin) Amniocentesis: ~99.9% (after 15 th week; 0.25% spont term) First-trimester Combined: 87% (Ultrasound, βhcg, PAPP- A) Integrative Screen: 96% Sequential Screen: 95% Independent Stepwise Contingent cffdna/rna Test: ~100% * NEJM (2005), 353:
20 Prenatal Diagnosis of Down syndrome Prenatal Screening* Triple Screen: 69% (βhcg, AFP, ue 3 ) Quadruple Screen: 81% (βhcg, AFP, ue 3, inhibin-a) First-trimester Combined: 87% (Ultrasound, βhcg, PAPP- A) Prenatal Diagnosis Chorionic Villus Sampling: ~99.9% (10-14 weeks, 1% spont termin) Amniocentesis: ~99.9% (after 15 th week; 0.25% spont term) cffdna/rna Test: ~100% Integrative Screen: 96% Sequential Screen: 95% Independent Stepwise Contingent * NEJM (2005), 353:
21
22
23 Egan et al.
24
25 Are expectant mothers making informed decisions? non-directive counseling accurate information up-to-date information balanced information
26 Education of Medical Professionals 81% of medical students report they are not getting any clinical training regarding individuals with Down syndrome 1 58% of medical school deans say such training not a high priority 1 45% of ACOG fellows and junior fellows rated their residency training as barely adequate or nonexistent. 2 Only 28% of ACOG fellows felt well qualified in prenatal genetic counseling Special Olympics. The health and health care of people with intellectual disabilities Cleary-Goldman, et al. Screening for Down syndrome: Practice patterns and knowledge of obstetricians and gynecologists. Obstet Gyncol 2006;107:11-17.
27 Prenatal Diagnosis Emphasize positive aspects so that parents will favor carrying to term without suggesting it directly Emphasize negative aspects so that parents will favor termination without suggesting it directly Urge parents to carry to term Try to be unbiased as possible Urge parents to terminate Genetic Professionals Physicians (N = 1,084) (N = 499) 2% 86% 13% 4% 10% 63% 13% 10% In Parens, E., & Asch, A. (2000). Prenatal Testing and Disability Rights. Washington, D.C.: Georgetown University Press, p. 277.
28 2,044 parents/guardians from 1,407 households (29% response) 99% love their son/daughter with Down syndrome 97% are proud of son/daughter with Down syndrome 79% felt outlook on life was more positive because of son/daughter 5% felt embarrassed, in general, by son/daughter with Down syndrome 4% regret having their son/daughter with Down syndrome
29 822 brothers/sisters, ages 9 62 (19% response) 97% ages 9-11, love their brother/sister with DS 94% ages >12, are proud of brothers/sister with Down syndrome 88% ages >12, felt they were better people because of sib 7% ages > 12, felt embarrassed, in general, by sib with Down syndrome 4% ages > 12, wish they could trade in sib with Down syndrome
30 284 people with Down syndrome, ages (17% response) 99% happy with their lives 99% said that they love their families 97% liked who they are 96% liked how they look 86% indicated they could make friends easily 4% expressed sadness about their life
31
32 ACMG: American College of Medical Genetics ACOG: American College of Obstetricians & Gynecologists NSGC: National Society of Genetic Counselors NDSS: National Down Syndrome Society NDSC: National Down Syndrome Congress June 17, 2009
33 What Change is Needed? 1. Develop standardized practice guidelines on how to deliver prenatal diagnosis 2. Train healthcare professionals of today and tomorrow to deliver complete, consistent, nonjudgmental, noncoercive information. 3. Develop consistent, gold-standard information about prenatal testing for Down syndrome. 4. Public education about the lives and values of people with DS
34
35 Prenatal Recommendations 1. Results of prenatal screening should be clearly explained as a risk assessment, not a positive or negative result. 2. Prior to CVS or amnio, discuss all reasons for prenatal diagnosis. 3. Healthcare professional(s) most knowledgeable about DS should deliver the news most likely OB and genetic professional together 4. If in-person visit not possible, news should be delivered over phone at pre-arranged time. 5. Answer: What is DS? What causes the condition? 6. Answer: What are realistic expectations for DS today? Offer connection with parent support groups. 7. Use non-directive language. 8. Offer up-to-date materials or bibliography. 9. Make follow-up appts, including specialists, as needed.
36
37
38 What Change is Needed? 1. Develop standardized practice guidelines on how to deliver prenatal diagnosis 2. Train healthcare professionals of today and tomorrow to deliver complete, consistent, nonjudgmental, noncoercive information. 3. Develop consistent, gold-standard information about prenatal testing for Down syndrome. 4. Public education about the lives and values of people with DS
39 Training Modules Brighter Tomorrows is an interactive online simulation that asks medical professionals to view virtual patient-doctor sessions and provide responses to questions and situations Developed in collaboration between physicians and parents In tests with 30 residents in OB/GYN and Pediatrics showed significant improvement in knowledge and level of comfort Access to online simulation: Ferguson et al. Resident Physicians Competencies and Attitudes in Delivering a Postnatal Diagnosis of Down Syndrome. Obstet Gyncol 2006;108: Lunney et al. Effectively Training Pediatric Residents to Deliver Diagnoses of Down Syndrome. AJMG 2012.
40 Prenatally and Postnatally Diagnosed Condition Awareness Act Purpose: to ensure that more accurate, up-to-date information is given to mothers who have fetuses or children with Down syndrome October 8, 2008: President Bush signed into law (Public Law ) Funding Opportunities: Once funds are available, hospital and departments could apply for competitive grants State version of the law: Missouri and Virginia
41 What Change is Needed? 1. Develop standardized practice guidelines on how to deliver prenatal diagnosis 2. Train healthcare professionals of today and tomorrow to deliver complete, consistent, nonjudgmental, noncoercive information. 3. Develop consistent, gold-standard information about prenatal testing for Down syndrome. 4. Public education about the lives and values of people with DS
42 Gold-standard Prenatal Information lettercase.org
43 This booklet was prepared with assistance from the Down Syndrome Consensus Group which includes representatives of The National Society of Genetic Counselors The American College of Medical Genetics The American College of Obstetricians and Gynecologists The National Down Syndrome Society The National Down Syndrome Congress
44
45 What Change is Needed? 1. Develop standardized practice guidelines on how to deliver prenatal diagnosis 2. Train healthcare professionals of today and tomorrow to deliver complete, consistent, nonjudgmental, noncoercive information. 3. Develop consistent, gold-standard information about prenatal testing for Down syndrome. 4. Public education about the lives and values of people with DS
46 Public Education
47 NDSS: My Great Story Campaign
48 NDSC: More Alike Than Different Campaign
49 Contact Information Web page: Facebook: facebook.com/brian.skotko Twitter: twitter.com/brianskotko YouTube: Hospital: Band of Angels Foundation
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
Trisomy 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
Non-Invasive Prenatal Testing (NIPT) Factsheet
Introduction NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomy 21 and a few other fetal chromosomal aneuploidies.
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
Fact Sheet about Down Syndrome for New and Expectant Parents
Fact Sheet about Down Syndrome for New and Expectant Parents Reviewed by the National Society of Genetic Counselors Down Syndrome Information Act Working Group, with assistance from the National Center
Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA
Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA Policy Number: Original Effective Date: MM.03.006 09/01/2013 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST
Clinical Studies Abstract Booklet
Clinical Studies Abstract Booklet The Harmony Prenatal Test is a non-invasive prenatal test (NIPT) that assesses the risk of trisomies by analyzing cell-free DNA (cfdna) in maternal blood. Since January
The California Prenatal Screening Program
The California Prenatal Screening Program Quad Marker Screening One blood specimen drawn at 15 weeks - 20 weeks of pregnancy (second trimester) Serum Integrated Screening Prenatal Patient Booklet - English
Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA
Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA Policy Number: Original Effective Date: MM.03.006 09/01/2013 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST 09/01/2013
your 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
The California Prenatal Screening Program
The California Prenatal Screening Program Provider ook netic Disease Screening Program Quad Marker Screening Serum Integrated Screening Full Integrated Screening TABLE OF CONTENTS WELCOME to the California
National 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
Who 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
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
A 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
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
Patient & Family Guide Pre-Existing Diabetes and Pregnancy
Patient & Family Guide Pre-Existing Diabetes and Pregnancy Center for Perinatal Care Meriter Hospital 202 S. Park Street Madison, WI 53715 608.417.6667 meriter.com 09/12/1000 A Meriter Hospital and University
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
Prenatal 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
The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands
FVV in ObGyn, 2014, 6 (1): 7-12 Preliminary report The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands P.J. Willems 1, H. Dierickx 1, ES. Vandenakker
Provider Notification Obstetrical Billing
Provider Notification Obstetrical Billing Date of Notification September 1, 20 Revision Date September 17, 2015 Plans Affected Mercy Care Plan and Mercy Care Long Term Care Plan Referrals As outlined in
Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy
Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy Testing and pregnancy GP s role 3 Counselling before and during pregnancy 3 Collecting the family history
The costs of having a baby. Private system
The costs of having a baby Private system Contents Introduction 4 Weeks 1 4 5 Week 5 5 Week 6 6 Week 10 6 Week 11 7 Week 12 8 Week 15 8 Week 16 9 Week 20 9 Week 21 10 Week 22 10 Week 26 11 Week 32 11 Week
Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA
MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions
fi АУ : fi apple Ав Ав АУ . apple, АУ fiав Ав. АК applefi АУ, АУАв Ав fi АУ apple fi Ав. А applefi АУ АУ АУ АсА» Ас Ам, длappleapple Ас...
АВАВАКдлАмА дла длама АсАядлАмА АВА АсдлАя & MАядлдлАмАК TА. 4, T. 2, АВ. 113-118, 2005 fi АУ : Аяapplefi. fiapple АсА» Ас Ам, длappleapple Ас..., Ая: Аяapplefi. fiapple, АВАУ Ас, АсА» Ас Ам длappleapple
The Down Syndrome Program at Boston Children s Hospital
The Down Syndrome Program at Boston Children s Hospital The Down Syndrome Program offers specialized services for children with Down syndrome and their families. Program staff work closely with children,
Prenatal Care Screening and Testing Guideline
Prenatal Care Screening and Testing Guideline Major Changes as of October 2013 2 Visit Schedule 2 Initial Visit 3 Second Trimester Visits (14 28 Weeks) 11 Third Trimester Visits (28 41 Weeks) 12 Postpartum
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
Balanced. 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
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.
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
Billing Guidelines for Obstetrical Services and PCO Responsibilities
Billing Guidelines for Obstetrical Services and PCO Responsibilities Providing obstetrical services to UnitedHealthcare Community Plan members and your patients is a collaborative effort. Complying with
N a t i o n a l D o w n S y n d r o m e. p l a n n i n g f o r a l o v i n g f u t u r e. A Loving Choice:
N a t i o n a l D o w n S y n d r o m e A d o p t i o n N e t w o r k p l a n n i n g f o r a l o v i n g f u t u r e A Loving Choice: Making an Adoption Plan for a Child with Down Syndrome What is the
Information on the anomaly scan
Information on the anomaly scan The 20-week ultrasound August 2014 2 Contents 1. What can I find in this brochure? 5 2. Screening for physical defects 7 3. Abnormal test results 8 4. Making a conscious
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
COMMITTEE OPINION. Cell-free DNA Screening for Fetal Aneuploidy
The American College of Obstetricians and Gynecologists WOMEN S HEALTH CARE PHYSICIANS (Published Electronically Ahead of Print on June 26, 2015) COMMITTEE OPINION Number 640 September 2015 (This Committee
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
TRANSITIONING TO ADULTHOOD: A GUIDE FOR INDIVIDUALS WITH NEUROFIBROMATOSIS-1. StLouisChildrens.org
TRANSITIONING TO ADULTHOOD: A GUIDE FOR INDIVIDUALS WITH NEUROFIBROMATOSIS-1 StLouisChildrens.org INTRODUCTION Neurofibromatosis Type 1 (NF1) is a common genetic condition that can affect many organs in
MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA
Scuola di specializzazione in Genetica Medica Journal Club 14 gennaio 2014 MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA Bianchi, Diana W. MD; Prosen,
Cytogenetic and Molecular Diagnosis in Gestational Disorders
Cytogenetic and Molecular Diagnosis in Gestational Disorders Katherine Geiersbach, M.D. Assistant Professor, Department of Pathology University of Utah School of Medicine Medical Director, Cytogenetics
Carrier 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.
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
Senate Bill No. 1555 CHAPTER 484
Senate Bill No. 1555 CHAPTER 484 An act to amend Sections 124977 and 125055 of, to add Sections 1604.6 and 125002 to, and to add Article 4 (commencing with Section 123370) to Chapter 1 of Part 2 of Division
Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma
No. 287, February 2013 Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma This committee opinion has been prepared by
Prenatal Screening Policies in Europe
Prenatal Screening Policies in Europe 2010 EUROCAT Central Registry Room 12L09, University of Ulster Newtownabbey, Co Antrim Northern Ireland, BT37 0QB Tel: +44 (0)28 90366639 Fax: +44 (0)28 90368341 Email:
Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis, April 2013
Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis, April 2013 Peter Benn (Chair), Antoni Borell, Rossa Chiu, Howard Cuckle,
DMBA Student Health Plan
622 661 156 703 141 DMBA Student Health Plan FIRST: Find a CONTRACTED PROVIDER by going to www.dmba.com. Find a Provider (under QuickLinks) Find a Deseret Mutual Contracted provider in Utah Select # 2;
DMBA Student Health Plan
2 1 6 3 1 DMBA Student Health Plan Maternity Benefits for the Non-Student Dependents FIRST: Find a CONTRACTED PROVIDER by going to www.dmba.com. Find a Provider (under QuickLinks) Find a Deseret Mutual
Prenatal screening January 2015
Information on screening for Down s syndrome Prenatal screening January 2015 Screening for Down s syndrome in brief Your obstetrician, GP or gynaecologist will explain the details of the screening programme.
Complimentary and personal copy for
Complimentary and personal copy for www.thieme.com Publishing House and Copyright: 2015 by Georg Thieme Verlag KG Rüdigerstraße 14 70469 Stuttgart ISSN Any further use only by permission of the Publishing
The quadruple test screening for Down s syndrome and spina bifida
The quadruple test screening for Down s syndrome and spina bifida This leaflet provides information about a blood test to check for Down s syndrome and spina bifida. This test is available to you between
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
Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome.
Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome. Define the terms karyotype, autosomal and sex chromosomes. Explain how many of
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
cfdna in maternal plasma obtained from a population undergoing routine screening at 11-13 weeks gestation.
Reports of Major Impact www.ajog.org Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population Kypros H. Nicolaides, MD; Argyro Syngelaki, RM; Ghalia Ashoor, MD;
Obstetrics Welcome Packet
Obstetrics Welcome Packet Welcome! The obstetricians/gynecologists and certified nurse-midwives of Northwestern Memorial Physicians Group (NMPG) are dedicated to providing you with the highest quality
Virginia Department of Medical Assistance Services (DMAS) - Involvement with Text4Baby
Virginia Department of Medical Assistance Services (DMAS) - Involvement with Text4Baby Background on Text4Baby Launched in February 2010 Initiative of the National Healthy Mothers Healthy Babies Coalition
Clinical Policy Title: Array comparative genomic hybridization testing
Clinical Policy Title: Array comparative genomic hybridization testing Clinical Policy Number: 02.01.03 Effective Date: Sept 1, 2015 Initial Review Date: May 13, 2013 Most Recent Review Date: August 19,
Physician self-efficacy efficacy and primary care management of maternal depression. Copyright 2007, Jenn A. Leiferman, jenn.leiferman@uchsc.
Physician self-efficacy efficacy and primary care management of maternal depression Jenn Leiferman, PhD University of Colorado Denver and Health Sciences Center Sarah Dauber, PhD Columbia University Kurt
Rural Health Advisory Committee s Rural Obstetric Services Work Group
Rural Health Advisory Committee s Rural Obstetric Services Work Group March 15 th webinar topic: Rural Obstetric Patient and Community Issues Audio: 888-742-5095, conference code 6054760826 Rural Obstetric
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
In most developed countries, prenatal screening
Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing Diana W. Bianchi, MD, Lawrence D. Platt, MD, James D. Goldberg, MD, Alfred Z. Abuhamad, MD, Amy J. Sehnert, MD, and Richard P. Rava,
Coding for the Contraceptive Implant and IUDs
LARC Quick Coding Guide 2012 UPDATE Coding for the Contraceptive Implant and IUDs CRECT CODING can result in more appropriate compensation for services. To help practices receive appropriate payment for
Testimony of the American College of Nurse-Midwives. at a Hearing of the House Committee on Energy and Commerce Subcommittee on Health.
Testimony of the American College of Nurse-Midwives at a Hearing of the House Committee on Energy and Commerce Subcommittee on Health on the Improving Access to Maternity Care Act (H.R.1209) Wednesday,
Executive summary. Current prenatal screening
Executive summary Health Council of the Netherlands. NIPT: dynamics and ethics of prenatal screening. The Hague: Health Council of the Netherlands, 2013; publication no. 2013/34. In recent years, new tests
Preventive Health Guidelines
Preventive Health Guidelines As of April 2010 What is your plan for better health? Make this year your best year for overall wellness. Your health benefits plan may cover early detection screenings and
Neural tube defects: open spina bifida (also called spina bifida cystica)
Screening Programmes Fetal Anomaly Neural tube defects: open spina bifida (also called spina bifida cystica) Information for health professionals Publication date: April 2012 Review date: April 2013 Version
Contents. Juvenile Onset HD. Family Guide Series. Reviewed by: Disclaimer: How to Use This Guide 2. I. Huntington s Disease and the HD Gene 3-5
Juvenile Onset HD Family Guide Series Reviewed by: Randi Jones, Ph.D. HDSA Center of Excellence Emory University Atlanta, GA Ami Rosen, CGC HDSA Center of Excellence Emory University Atlanta, GA Contents
First- and Second-Trimester Evaluation of Risk for Down Syndrome
Original Research First- and Second-Trimester Evaluation of Risk for Down Syndrome Robert H. Ball, MD, Aaron B. Caughey, MD, MPP, Fergal D. Malone, MD, David A. Nyberg, MD, Christine H. Comstock, MD, George
How To Become A Sonographer
Medical Sonography and Echocardiography Programs Provide direct patient care to a variety of people ranging from healthy to critically ill. Combining a desire to help patients with an interest in state-of-theart
Virginia RANKING: 19
Virginia RANKING: 19 Virginia provides fairly comprehensive protection for women, the unborn, and newly born children. It is also one of only a small number of states that has enacted meaningful, protective
OBSTETRICAL POLICY. Page
OBSTETRICAL POLICY REIMBURSEMENT POLICY Policy Number: ADMINISTRATIVE 200.14 T0 Effective Date: April 1, 2016 Table of Contents APPLICABLE LINES OF BUSINESS/PRODUCTS... APPLICATION... OVERVIEW... REIMBURSEMENT
A Guide for Enrolling Patients and Clients in Text4baby. Harnessing the Power of Mobile for Maternal & Child Health in the U.S.
A Guide for Enrolling Patients and Clients in Text4baby Harnessing the Power of Mobile for Maternal & Child Health in the U.S. Text4baby Supports Patients Text4baby is the largest mobile health initiative
My Birth Experience at Mercy
My Birth Experience at Mercy This booklet provides information about labor and birth practices at Mercy and includes an optional birth plan that you can complete prior to your baby s birth. Discuss your
Prenatal screening and diagnosis of chromosomal and genetic abnormalities in the fetus in pregnancy
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists Prenatal screening and diagnosis of chromosomal and genetic abnormalities in the fetus in pregnancy This statement has been
echocardiography practice and try to determine the ability of each primary indication to identify congenital heart disease. Patients and Methods
29 ABNORMAL CARDIAC FINDINGS IN PRENATAL SONOGRAPHIC EXAMINATION: AN IMPORTANT INDICATION FOR FETAL ECHOCARDIOGRAPHY? RIMA SAMI BADER Aim: The present study was conducted to evaluate the most common indications
Preventive health guidelines
Preventive health guidelines As of May 2015 What is your plan for better health? Make this year your best year for wellness. Your health plan may help pay for tests to find disease early and routine wellness
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)
Genetics in Primary Care Institute
Genetics in Primary Care Institute Genomic Medicine Working Group Meeting Robert Saul, MD, FAAP, FACMG On behalf of the American Academy of Pediatrics Chairperson, Committee on Genetics Co-Chairperson,
Wrongful deaths and rightful lives screening for Down syndrome
Wrongful deaths and rightful lives screening for Down syndrome Frank Buckley and Sue Buckley Prenatal screening for Down syndrome affects millions of pregnancies every year worldwide. The vast majority
Guidelines for States on Maternity Care In the Essential Health Benefits Package
Guidelines for States on Maternity Care In the Essential Health Benefits Package Section 2707(a) of the Patient Protection and Affordable Care Act (ACA) requires that all new health insurance plans in
Seashore Obstetrics and Gynecology Adi Smolinsky, M.D.
Congratulations and welcome to our practice! This is a very exciting time for you and your family and we would like to help in any way possible. Whether this is your first pregnancy or you already have
PROVIDER 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
Obstetrical Services Policy
Policy Number 2016R0064A Annual Approval Date Obstetrical Services Policy 3/11/2015 Approved By Payment Policy Oversight Committee IMPORTANT NOTE ABOUT THIS REIMBURSEMENT POLICY You are responsible for
New York State Ten Steps to a Breastfeeding Friendly Practice Implementation Guide June 2014
Ten Steps to a Breastfeeding Friendly Practice 1. Develop and maintain a written breastfeeding friendly office policy. 2. Train all staff to promote, support and protect breastfeeding and breastfeeding
Corporate Reimbursement Policy
Corporate Reimbursement Policy Guidelines for Global Maternity Reimbursement File Name: Origination: Last Review: Next Review: guidelines_for_global_maternity_reimbursement 10/2003 7/2016 7/2017 Description
On behalf of the Association of Maternal and Child Health Programs (AMCHP), I am
Christopher Kus, M.D., M.P.H. Association of Maternal and Child Health Programs, Public Witness Testimony House Labor, Health and Human Services and Education Appropriations Subcommittee March 13, 2013
Neural tube defects (NTDs): open spina bifida (also called spina bifida cystica)
Screening Programmes Fetal Anomaly Neural tube defects (NTDs): open spina bifida (also called spina bifida cystica) Information for parents Publication date: April 2012 Review date: April 2013 Version
Genetic Services Policy Project Final Report
Final Report Chapter 2: The Delivery of Genetic Services in the United States A. What are genetic services? The defines genetic services as genetic testing, diagnosis of genetic conditions, genetic counseling,
How To Stop A Pregnant Addict From Getting A Jail Sentence For Drug Use
Case: 3:14-cv-00870-jdp Document #: 14-9 Filed: 01/07/15 Page 1 of 6 APPENDIX 8 Case: 3:14-cv-00870-jdp Document #: 14-9 Filed: 01/07/15 Page 2 of 6 AMERICAN MEDICAL ASSOCIATION Pregnant women will be
Preventive health guidelines As of May 2014
To learn more about your plan, please see anthem.com/ca. To learn more about vaccines, please see the Centers for Disease Control and Prevention (CDC) website: cdc.gov. Preventive health guidelines As
Genetic Counseling Services Working Group Report
Genetic Counseling Services Working Group Report Presented by Kelly Ormond (on behalf of NSGC) Andy Faucett (on behalf of ABGC) Judith Cooksey (HRSA Workforce Study) and Judith Lewis (ISONG) also present
EXHIBITOR GUIDE. American Congress of Obstetricians & Gynecologists 2013 ANNUAL DISTRICT II MEETING. Grand Hyatt, New York OCTOBER 25-27
American Congress of Obstetricians & Gynecologists 2013 ANNUAL DISTRICT II MEETING EXHIBITOR GUIDE Grand Hyatt, New York OCTOBER 25-27 2 0 1 3 Jointly sponsored by the American College of Obstetricians
FAMILY 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
UPMC HEALTH PLAN PERINATAL CLINICAL PRACTICE GUIDELINE
Relevance to Population: UPMC Health Plan is dedicated to high-quality evidence based perinatal care of the membership of women of childbearing age, including the population at high risk. Perinatal care
Glenmeadow, Inc. Terms and Conditions of Use Legal Notices/ Privacy Policy
Glenmeadow, Inc. Terms and Conditions of Use Legal Notices/ Privacy Policy Medical Disclaimer Glenmeadow is a senior living retirement community providing assisted and independent senior living options
Breastfeeding Friendly Physician Offices
Breastfeeding Friendly Physician Offices Jennifer Stewart, R.D., M.B.A., CLS Loving Support Breastfeeding Program, Riverside County Department of Public Health Susanna Sibilsky, Regional Breastfeeding
Carol 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
Section IX Special Needs & Case Management
SPECIAL NEEDS & CASE MANAGEMENT Section IX Special Needs & Case Management Special Needs and Case Management 180 Integrated Care Management/Complex Case Management The Case Management/Care Coordination
CONFIDENT CODING FOR OB/GYN CONFIDENT CODING FOR OB/GYN
Arlene J. Smith, CPC AAPC National Advisory Board 2007-2009 1 So when exactly does the global period start? Unraveling the confusion in antepartum care coding Correct coding for multiple gestations! Vaginal