Cell-free DNA Tests for Non-invasive Prenatal Aneuploidy Screening
|
|
|
- Duane Holland
- 7 years ago
- Views:
Transcription
1 Cell-free DNA Tests for Non-invasive Prenatal Aneuploidy Screening David G. Grenache, PhD Professor of Pathology, University of Utah Medical Director, ARUP Laboratories Salt Lake City, UT
2 Aneuploidy Normal human complement of chromosomes is 46 (23 pairs) Aneuploidy is the presence of an abnormal number of chromosomes Most common extra autosomal chromosomes among live birth infants are 21, 18 and 13 (trisomies) Multiple phenotypes Intellectual disability common to all Source: National Institutes of Health
3 History of Prenatal Screening for Trisomy 21 (Down Syndrome) 1960 s Age 27% DR 15% FPR 1984 Double (2 nd tri) 63% DR 10% FPR 1988 Triple (2 nd tri) 77% DR 8% FPR 2003 Integrated (1 st & 2 nd ) 90% DR 2% FPR 1997 Combined (1 st tri) 80% DR 5% FPR 1996 Quad (2 nd tri) 80% DR 5% FPR 2011 cfdna-based (1 st & 2 nd ) >98% DR <0.3% FPR
4 Screening for Fetal Trisomies Method Fetal Defect Incidence (live births, approximate) Biochemical & cfdna-based screening Biochemical & cfdna-based screening Trisomy 21 (Down syndrome) 1 in 700 Trisomy 18 (Edwards syndrome) 1 in 5,000 cfdna-based screening only Trisomy 13 (Patau syndrome) 1 in 16,000
5 Cell-free Fetal DNA in Maternal Blood Reported by Lo, et al. in 1997 Derived primarily from the placenta and represents ~10% of total DNA circulating in maternal blood by 10 th week of pregnancy Ushered in screening tests that identify molecular pathology of aneuploidies Non-invasive prenatal testing (NIPT)
6 cfdna Aneuploidy Screening Tests (US) Company Location Product Method Sequenom San Diego, CA MaterniT21 TM Plus MPSS Illumina Quest Diagnostics Redwood City, CA San Juan Capistrano, CA Verifi Prenatal Test QNatal Advanced MPSS MPSS Natera San Carlos, CA Panorama TM polymorphism Single nucleotide sequencing Ariosa Diagnostics San Jose, CA MPSS: Massively parallel shotgun sequencing Methods may differ but goal is the same Harmony TM Prenatal Test Identify extra copies of a specific chromosome Targeted sequencing
7 Massively Parallel Shotgun Sequencing (Sequenom, Illumina, Quest) 1st bases of random DNA fragments sequence Sequences mapped to a specific chromosome Number of sequences are counted and compared to a reference counts from a normal genome Excess (or deficiency) number of counts for a specific chromosome indicates aneuploidy No distinction between maternal and fetal sequences Norwtiz ER, et al. Rev Obstet Gynecol 2013;6:48-62
8 Single Nucleotide Polymorphism (SNP) Sequencing (Natera) Selective sequencing of 13,392 SNPs on chromosomes 13, 18, 21, X, and Y Determines number and identity of each allele Algorithm incorporates maternal genotype and recombination frequencies to construct billions of theoretical fetal genotypes Probability of each fetal genotype determined and a risk score determined for each chromosome evaluated
9 Targeted Sequencing (Ariosa) Counting method similar to MPSS Limits mapping of sequences to chromosomes of clinical interest Reduces number of sequences needed (and associated costs) Detection rates highest for trisomy 21
10 Clinical Performance of cfdna Aneuploidy Screening Tests Company Sequenome Illumina, Inc. Ariosa Diagnostics, Inc. Product MaterniT21 TM Plus Verifi Prenatal Test Harmony TM Prenatal Test Detection rate (%) False-positive rate (%) T21 T18 T > > > Natera, Inc. Panorama TM >99 >99 >99 0 <0.1 0 AJOG 2012;206:322.e1-5 Genet Med 2012;14: Obstet Gynecol 2012;119: Prenat Diagn 2013;33: Ultrasound Obstet Gynecol 2013;207:1.e1-6 Prenat Diagn 2013;33: Prenat Diagn 2013;33:
11 Pre-test Risk and Post-test Positive Predictive Values Are Important Positive predictive value (PPV) PPV = True positives / True positives + False positives What is the probability of an affected fetus given a positive result? Age (y) Pre-test risk (1 in x) Post-test positive predictive value (%) T21 T18 T , Wax JR, et al. Am J Obstet Gynecol 2015;212: Compare to the Combined (biochemical) test for T21 Sensitivity 93%; False-positive rate 5% At prevalence of 1:280 the PPV is only 6%
12 High-risk vs. Low-risk Women Most professional practice guidelines recommend cfdna aneuploidy screening tests for high risk pregnancies ACOG. Obstet Gynecol 2012;120:
13 High-risk vs. Low-risk Women Most professional practice guidelines recommend cfdna aneuploidy screening tests for high risk pregnancies Benn P, et al. Prenat Diag 2015;35:1-10 Although any patient may choose cfdna screening conventional screening methods remain the most appropriate choice for first-line screening for most women in the general obstetric population. ACOG. Obstet Gynecol 2012;120: ACOG. Obstet Gynecol 2015; published ahead of print (doi: /AOG )
14 Cost Effectiveness of cfdna Aneuploidy Screening Tests cfdna aneuploidy screening costs more than conventional screening ($>1,000 vs. $<200) cfdna is more accurate than conventional tests cfdna screening is cost effective to society at <$550/test Cost-effective to payers at <$217/test
15 Contingent Screening Biochemical Screening cfdna Screening Normal Abnormal Normal Abnormal Stop Diagnostic testing Stop Diagnostic testing
16 Contingent Screening 100,000 women screened 1 in 300 T21 prevalence (333 DS fetuses) 1 st Trimester Combined Test (cutoff 1:1515) 94.8% DR (315/333) 21.3% FPR (21,229/99,667) cfdna on all positives 99% DR (312/315) 0.08% FPR (17/21,229) Overall DR: 93.8% Overall FPR: 0.02% PPV 94.8% Diagnostic test for screen positives Walker BS, et al. PLoS 2012;10:e
17 The No result Problem Test fails to produce a result in 1-8% of samples due to low fetal fraction of DNA (e.g. obese patients, fetus with aneuploidy) Some studies fail to account for these no calls when reporting detection rates Repeat testing successful in ~50% of women A low fetal DNA fraction increases risk of having affected fetus Women should receive genetic counseling and be offered diagnostic testing (ACOG)
18 Misperceptions of cfdna Aneuploidy Screening Tests cfdna outperforms conventional biochemical screening tests Better performance has created the perception that cfdna screening tests produce conclusive results. Not true! Abnormal cfdna screening tests should be followed by invasive diagnostic testing (e.g. fetal karyotype, FISH, microarray)
19 Summary cfdna screening tests identify the molecular pathology of aneuploidies whereas conventional biochemical tests rely on the determination of a biochemical phenotype cfdna screening tests have high aneuploidy detection rates (highly sensitive) and very low false-positive rates (highly specific) An abnormal positive cfdna screening test result must be interpreted with an understanding of the positive predictive value Contingent aneuploidy screening is a logical protocol to be followed until cfdna screening as a primary test becomes cost-effective
20 2015 ARUP Laboratories
21 Multiple Gestations All fetuses contribute cfdna to maternal blood No ability to distinguish a differential risk between multiple fetuses Very limited data on cfdna aneuploidy screening test performance in twin gestations and no data on higher-order multiples cfdna screening tests are not recommended for women with multiple gestations
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
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
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
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
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
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.
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
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
New Prenatal Tests for Down Syndrome: Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital
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
Non-invasive prenatal detection of chromosome aneuploidies using next generation sequencing: First steps towards clinical application
Non-invasive prenatal detection of chromosome aneuploidies using next generation sequencing: First steps towards clinical application PD Dr. rer. nat. Markus Stumm Zentrum für Pränataldiagnostik Kudamm-199
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
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,
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
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
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
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;
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
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
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:
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)
Chapter 9 Diagnostic testing for trisomy 18
Chapter 9 Diagnostic testing for trisomy 18 9.1 Diagnostic procedures: amniocentesis Introduction: An amniocentesis procedure involves the use of a small gauge needle inserted through the woman s abdomen
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
The correct answer is c A. Answer a is incorrect. The white-eye gene must be recessive since heterozygous females have red eyes.
1. Why is the white-eye phenotype always observed in males carrying the white-eye allele? a. Because the trait is dominant b. Because the trait is recessive c. Because the allele is located on the X chromosome
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
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
The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report
0 The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report Joan K Morris, Elizabeth De Souza December 2009 National Down Syndrome Cytogenetic Register Queen Mary University
Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method
Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method Ghalia ASHOOR 1, Argyro SYNGELAKI 1, Eric WANG 2, Craig STRUBLE 2, Arnold OLIPHANT 2,
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
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
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
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,
What women can do to optimise their health during pregnancy and that of their baby Claire Roberts
Periconception Planning to Protect Pregnancy and Infant Health 2015 What women can do to optimise their health during pregnancy and that of their baby Claire Roberts Pregnancy Complications Preterm Birth
RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI
RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS -RM Clinically recognized consecutive or non consecutive pregnancy losses before
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
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
Disclosure. Objectives 2/21/2016
Recurrent Pregnancy Loss: The myths, the controversies and the evidence Mamie McLean, MD Assistant Professor Reproductive Endocrinology and Infertility University of Alabama at Birmingham Disclosure I
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
Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation
American Journal of Obstetrics and Gynecology (2006) 194, 397 401 www.ajog.org Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation Aris T. Papageorghiou, MD, a Kyriaki Avgidou, MD, a
4.2 Meiosis. Meiosis is a reduction division. Assessment statements. The process of meiosis
4.2 Meiosis Assessment statements State that meiosis is a reduction division of a diploid nucleus to form haploid nuclei. Define homologous chromosomes. Outline the process of meiosis, including pairing
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
Heredity - Patterns of Inheritance
Heredity - Patterns of Inheritance Genes and Alleles A. Genes 1. A sequence of nucleotides that codes for a special functional product a. Transfer RNA b. Enzyme c. Structural protein d. Pigments 2. Genes
Prediction of Pregnancy Outcome Using HCG, CA125 and Progesterone in Cases of Habitual Abortions
Prediction of Pregnancy Outcome Using HCG, CA125 and Progesterone in * (MBChB, FICMS, CABOG) **Sawsan Talib Salman (MBChB, FICMS, CABOG) ***Huda Khaleel Ibrahim (MBChB) Abstract Background: - Although
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,
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.
Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood
Clinical Chemistry 57:7 1042 1049 (2011) Molecular Diagnostics and Genetics Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal
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
Screening for chromosomal abnormalities at 10 14 weeks: the role of ductus venosus blood flow
Ultrasound Obstet Gynecol 1998;12:380 384 Screening for chromosomal abnormalities at 10 14 weeks: the role of ductus venosus blood flow A. Matias*, C. Gomes*, N. Flack*, N. Montenegro and K. H. Nicolaides*
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
Overview of Genetic Testing and Screening
Integrating Genetics into Your Practice Webinar Series Overview of Genetic Testing and Screening Genetic testing is an important tool in the screening and diagnosis of many conditions. New technology is
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
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
DOI: 10.1002/pd.2922 ORIGINAL ARTICLE Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy Andrew B. Sparks 1, Eric T. Wang 1, Craig A. Struble 1, Wade Barrett 1, Renee
Chromosomes, Mapping, and the Meiosis Inheritance Connection
Chromosomes, Mapping, and the Meiosis Inheritance Connection Carl Correns 1900 Chapter 13 First suggests central role for chromosomes Rediscovery of Mendel s work Walter Sutton 1902 Chromosomal theory
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
User guide for referring samples to the IBGRL Molecular Diagnostics Laboratory
International Blood Group Reference Laboratory (IBGRL) IBGRL provides specialist diagnostic services to NHS Blood and Transplant. The Molecular Diagnostics department is a CPA accredited laboratory and
Inclusion of Early Fetal Deaths in a Birth Defects Surveillance System
TERATOLOGY 64:S20 S25 (2001) Inclusion of Early Fetal Deaths in a Birth Defects Surveillance System MATHIAS B. FORRESTER AND RUTH D. MERZ* Hawaii Birth Defects Program, Honolulu, Hawaii 96817 ABSTRACT
The following chapter is called "Preimplantation Genetic Diagnosis (PGD)".
Slide 1 Welcome to chapter 9. The following chapter is called "Preimplantation Genetic Diagnosis (PGD)". The author is Dr. Maria Lalioti. Slide 2 The learning objectives of this chapter are: To learn the
Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester
Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester Peter M. Doubilet, MD, PhD, Carol B. Benson, MD, Jeanne S. Chow, MD Slow embryonic heart rates
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
Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester
PRENATAL DIAGNOSIS Prenat Diagn 2000; 20: 390±394. Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester Kevin Spencer 1 *, Natasha Tul 2 and Kypros H. Nicolaides 2
Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies
Ultrasound Obstet Gynecol 2013; 42: 34 40 Published online 7 June 2013 in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.12504 Implementation of maternal blood cell-free DNA testing in
8/13/2014. Blood, Sweat (and Tears): Delayed Cord Clamping and Delivery Room Temperature. Delayed Cord Clamping
8/13/2014 Blood, Sweat (and Tears): Delayed Cord Clamping and Delivery Room Temperature James F. Smith, Jr., MD Professor and Chair Obstetrics and Gynecology Creighton University School of Medicine The
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
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
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
Gutenberg Center in MALAGA
Introduction Gutenberg Center in MALAGA Gutenberg Center in Málaga opened in 1987 as a clinic to provide integral assisstance for women, divided into 6 Units, specialized in the different aspects of Obs
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,
1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects
1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects Ana Stavljenić-Rukavina Zagreb University School of Medicine, Croatia The standard measures for population health outcomes is based on
Wendy Martinez, MPH, CPH County of San Diego, Maternal, Child & Adolescent Health
Wendy Martinez, MPH, CPH County of San Diego, Maternal, Child & Adolescent Health Describe local trends in birth Identify 3 perinatal health problems Identify 3 leading causes of infant death Age Class
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
Fetal Fraction Estimate in Twin Pregnancies Using Directed Cell-Free DNA Analysis
Original Paper Received: August 22, 2013 Accepted after revision: September 17, 2013 Published online: December 7, 2013 Pregnancies Using Directed Cell-Free DNA Analysis Craig A. Struble a Argyro Syngelaki
Basic Human Genetics: Reproductive Health and Chromosome Abnormalities
Basic Human Genetics: Reproductive Health and Chromosome Abnormalities Professor Hanan Hamamy Department of Genetic Medicine and Development Geneva University Switzerland Training Course in Sexual and
Fetal Prognosis in Varix of the Intrafetal Umbilical Vein
Fetal Prognosis in Varix of the Intrafetal Umbilical Vein Waldo Sepulveda, MD, Antonio Mackenna, MD, Jorge Sanchez, MD, Edgardo Corral, MD, Eduardo Carstens, MD To assess the clinical significance of varix
Parvovirus B19 Infection in Pregnancy
Parvovirus B19 Infection in Pregnancy Information Pack Parvovirus B19 Infection in Pregnancy Information Booklet CONTENTS: THE VIRUS page 3 CLINICAL MANIFESTATIONS page 6 DIAGNOSIS page 8 PATIENT MANAGEMENT
2. True or False? The sequence of nucleotides in the human genome is 90.9% identical from one person to the next. False (it s 99.
1. True or False? A typical chromosome can contain several hundred to several thousand genes, arranged in linear order along the DNA molecule present in the chromosome. True 2. True or False? The sequence
Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs)
Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Single nucleotide polymorphisms or SNPs (pronounced "snips") are DNA sequence variations that occur
Gene Mapping Techniques
Gene Mapping Techniques OBJECTIVES By the end of this session the student should be able to: Define genetic linkage and recombinant frequency State how genetic distance may be estimated State how restriction
The Role of Genetic Testing in the Evaluation of Thyroid Nodules. Thyroid Cancer and FNA. Thyroid Cancer. Pure Follicular Cancers.
Where does Molecular Analysis of FNA Specimens fit into the evaluation of thyroid nodules? The Role of Genetic Testing in the Evaluation of Thyroid Nodules Ultrasound TSH Risk factors Jill E. Langer, MD
Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester?
Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester? Laurence E. Shields, MD, Leslie A. Carpenter, MS, CGC, Karin M. Smith, RDMS, Hanh V. Nghiem, MD The objective of
Ultrasound evaluation of fetal gender at 12 14 weeks
Ultrasound evaluation of fetal gender at 12 14 weeks Marek Lubusky a,b, Martina Studnickova a, Ales Skrivanek a, Katherine Vomackova c, Martin Prochazka a Aims. The aim of this study was to assess the
3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D.
in Obstetrics: Current Modalities & Future Potential Outline What is 3D US? What are obvious advantages of 3D US? What is the future of 3D US? Alfred Abuhamad, M.D. Eastern Virginia Medical School 2D US
Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free β-hcg and PAPP-A at 11 + 0to13+ 6 weeks
Ultrasound Obstet Gynecol 2006; 27: 151 155 Published online 30 December 2005 in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.2699 Screening for trisomy 21 by fetal tricuspid regurgitation,
Birth defects. Report by the Secretariat
EXECUTIVE BOARD EB126/10 126th Session 3 December 2009 Provisional agenda item 4.7 Birth defects Report by the Secretariat 1. In May 2009 the Executive Board at its 125th session considered an agenda item
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
Charts of fetal size: limb bones
BJOG: an International Journal of Obstetrics and Gynaecology August 2002, Vol. 109, pp. 919 929 Charts of fetal size: limb bones Lyn S. Chitty a, *, Douglas G. Altman b Objective To construct new size
The Human Genome Project
The Human Genome Project Brief History of the Human Genome Project Physical Chromosome Maps Genetic (or Linkage) Maps DNA Markers Sequencing and Annotating Genomic DNA What Have We learned from the HGP?
AND GENETIC TESTING FOR ALL... THE COMING REVOLUTION IN NON-INVASIVE PRENATAL GENETIC TESTING
AND GENETIC TESTING FOR ALL... THE COMING REVOLUTION IN NON-INVASIVE PRENATAL GENETIC TESTING Jaime S. King* For thousands of years, expecting parents have daydreamed of being able to know about their
PERINATAL NUTRITION. Nutrition during pregnancy and lactation. Nutrition during infancy.
PERINATAL NUTRITION Nutrition during pregnancy and lactation Nutrition during infancy. Rama Bhat, MD. Department of Pediatrics, University of Illinois Hospital Chicago, Illinois. Nutrition During Pregnancy
Invasive Prenatal (Fetal) Diagnostic Testing
MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Invasive Prenatal (Fetal) Diagnostic Testing Number 12.04.116
Chapter 8: Variation in Chromosome Structure and Number
Chapter 8: Variation in Chromosome Structure and Number Student Learning Objectives Upon completion of this chapter you should be able to: 1. Know the principles and terminology associated with variations
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
SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE
AP Biology Date SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE LEARNING OBJECTIVES Students will gain an appreciation of the physical effects of sickle cell anemia, its prevalence in the population,
Rapid Aneuploidy and CNV Detection in Single Cells using the MiSeq System
i Technical Note: Reproductive Health Rapid Aneuploidy and CNV Detection in Single Cells using the MiSeq System Comparison between data generated from single cells using 24sure array-based screening and
AUSTRALIA AND NEW ZEALAND FACTSHEET
AUSTRALIA AND NEW ZEALAND FACTSHEET What is Stillbirth? In Australia and New Zealand, stillbirth is the death of a baby before or during birth, from the 20 th week of pregnancy onwards, or 400 grams birthweight.
Available online at www.sciencedirect.com. Taiwanese Journal of Obstetrics & Gynecology 51 (2012) 77e82. Short Communication. Accepted 25 October 2011
Available online at www.sciencedirect.com Taiwanese Journal of Obstetrics & Gynecology 51 (2012) 77e82 Short Communication Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and acgh analyses
Clinical Significance of First Trimester Umbilical Cord Cysts
Clinical Significance of First Trimester Umbilical Cord Cysts Waldo Sepulveda, MD, Sergio Leible, MD, Angel Ulloa, MD, Milenko Ivankovic, MD, Carlos Schnapp, MD A cystic mass of the umbilical cord was
Clinical Policy Title: Home uterine activity monitoring
Clinical Policy Title: Home uterine activity monitoring Clinical Policy Number: 12.01.01 Effective Date: August 19, 2015 Initial Review Date: July 17, 2013 Most Recent Review Date: July 15, 2015 Next Review
Corporate Medical Policy Fetal RHD Genotyping Using Maternal Plasma
Corporate Medical Policy Fetal RHD Genotyping Using Maternal Plasma File Name: Origination: Last CAP Review: Next CAP Review: Last Review: fetal_rhd_genotyping_using_maternal_plasma 1/2014 9/2015 9/2016
Hb A distribution in cord blood
2 ND European Hemoglobinopathy Forum: Insights on the Diagnosis of Hemoglobin disorders November 29th, 2011 Madrid Hb A distribution in cord blood (normal vs β + or β o thalassemia carriers) Giovanni Ivaldi
Validation and Replication
Validation and Replication Overview Definitions of validation and replication Difficulties and limitations Working examples from our group and others Why? False positive results still occur. even after