9/18/2014. How has the presentation of NIPS changed in recent years? How do we make sense of the different statistical terms?

Save this PDF as:
 WORD  PNG  TXT  JPG

Size: px
Start display at page:

Download "9/18/2014. How has the presentation of NIPS changed in recent years? How do we make sense of the different statistical terms?"

Transcription

1 It is a common misconception among patients that NIPT is diagnostic in value. These beliefs are often based on the misconceptions formed by seeing advertised testing sensitivity and specificity reported as >99-100%...it is imperative for medical professionals and their patients to understand that NIPT is still a screening tool and cannot replace the high level of accuracy seen by diagnostic testing. Meagan Smith, Kimberly M. Lewis, Alexandrea Holmes, and Jeannie Visootsak, A Case of False Negative NIPT for Down Syndrome-Lessons Learned, Case Reports in Genetics, vol. 2014, Article ID , 3 pages, doi: /2014/

2 How has the presentation of NIPS changed in recent years? How do we make sense of the different statistical terms? What should we be looking for in our review of NIPS studies? NIPD Diagnosis NIPT Testing NIPS Screening cffdna cell free FETAL DNA cfdna Cell free DNA 2

3 During Pregnancy, some of the baby s DNA crosses the placenta into the mother s bloodstream. During pregnancy, the mother's blood contains fragments of the developing baby s DNA. Because fetal cfdna traverses the blood placental barrier and enters maternal circulation, a simple maternal blood draw allows for detection of fetal chromosomal copy number while avoiding the risks of invasive procedures % accurate, simple and trusted. Near diagnostic accuracy safer, simpler test results. a noninvasive approach to provide a high degree of accuracy for select chromosome information, without the risk of miscarriage associated with an invasive procedure. Safe. Non-invasive. 99% accurate. Delivers the lowest false-positive rate of any trisomy blood test

4 I did the Harmony test and it came back positive for T18. With what I understood to be a 99%+ accuracy I had pretty much given up on this pregnancy, but decided to do the amnio and FISH test to be 100% sure before terminating. When I got the call yesterday that my test results and ultrasound were completely normal I was completely surprised - and totally overwhelmed with emotion. How can this happen? prenatal_test_or_amnio?cpg=6 my Verifi blood test came back "positive" for Trisomy Based on everything I have read, it seems like going through the CVS is in vain since the accuracy of these blood tests are 99%+ with very low false positives. my_21_-_positive_result_-_devastated 4

5 356 High Risk Cases 184 (51.7%) true positives 38 (10.7%) False positives 19 (5.3% ultrasound findings suggestive of aneuploidy 36 (10.1%) spontaneous abortion without karyotype information 22 (6.2%) terminations without karyotype confirmation 57 (16.0%) were lost to follow-up Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, Zimmermann B, Hill M, Sigurjonsson S, Ryan A, Banjevic M, Kolacki PL, Koch SW, Strom CM, Rabinowitz M, Benn P. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol Aug 8. [Epub ahead of print] Sensitivity-measures the proportion of positives which are correctly identified as positive Specificity- measures the proportion of negatives which are correctly identified as negative 5

6 Positive Predictive Value - the likelihood that a positive test is a true positive Negative Predictive Value -the likelihood that a negative test is a true negative PPV and NPV are not intrinsic to test performance depend on prevalence Down Syndrome = 1 in 250 (35 yo) DS (400) No DS (99,600) Sensitivity 99.5% Specificity 99.9% Test Positive 498 True Positive 398 False Positive 100 PPV 398/498 =.80 Test Negative 99,502 False Negative 2 True Negative 99,500 NPV 99,500/99,502 =.999 Test Positive 498 Down Syndrome = 1 in 250 (35yo) DS (400) No DS (99,600) Sensitivity 99.5% Specificity 99.9% false positive result 1 in 5 True Positive 398 False Positive 100 PPV 398/498 =.80 Test Negative 99,502 False Negative 2 True Negative 99,500 NPV 99,500/99,502 =.999 6

7 07/11/guest-post-nips-is-notdiagnostic-convincing-ourpatients-and-convincingourselves/ Aneuploidy Positive results with NIPS Confirmed with diagnostic test T /41 (93%) T /25 (64%) T /16 (44%) 45X 16 6/16 (38%) Wang JC, Sahoo T, Schonberg S, Kopita KA, Ross L, Patek K, Strom CM. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med Aug 7. Accuracy - the proportion of true results (both true positives and true negatives) in the population. 7

8 False Positive Rate- Of all women screened, the proportion who will have a positive result that is a false positive result FPR and Accuracy do not speak to the reliability of any single given test for an individual woman. It is a population metric. PPV NPV Sensitivity Specificity T T T T21 >99.9% 99.8% T % 99.6% T % >99.9% Down Syndrome Incidence - 1 in 4 DS (25,000) DS (75,000) Test Positive 25,125 Sensitivity 99.9% True Positive 24,975 Specificity 99.8% False Positive 150 PPV 24,975/25125 =.994 Test Negative 74,875 False Negative 25 True Negative 74,850 NPV 74,850/74875 =.999 8

9 Follow-up data for negative results reported? Information about no-call results included? Are all informative samples used in performance data calculations? Do study groups have artificially high incidence of aneuploidy? Sample size? Potential for industry bias? Obstet Gynecol Aug;124(2 Pt 1): The overall cohort included 1,064 samples: 926 euploid, 67 trisomy 21, 32 trisomy 18, 14 trisomy 13, 12 monosomy X, 2 47,XXY, one 47,XXX, one 47, XYY, six triploid, and three samples (one trisomy 13, two monosomy X) with confirmed fetal mosaicism. Pergament et al Obstet Gynecol Aug;124(2 Pt 1):

10 cfdna testing merits serious consideration as a primary screening method for fetal autosomal aneuploidy. N Engl J Med Feb 27;370(9): NEJM-Published study finds verify prenatal test achieved 10x higher positive predictive value vs current standard of care August 2014 Prospective, blinded study comparing NIPS to biochem screening Both methods detected all cases of true aneuploidy (5 cases of T21, 2 cases of T18, and 1 case of T13), Ages (mean 29.6) The positive predictive values of cfdna testing vs biochem T % with NIPS - 4.2% with biochemical screening T % with NIPS - 8.3% with biochemical screening Bianchi DW, Parker RL, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med Feb 27;370(9): in in in 50 >1 in 10 Biochemical NIPS Positive Aneuploidy detected >99% risk score 10

11 Genetic Counseling Pregnant? Prenatal Screening? Results Diagnostic Testing DTC Advertising OB Provider Family and Friends As with any prenatal testing, patients must have accurate, up-to date information regarding the test, the possible results, and the available follow-up in order to make an informed choice when considering NIPT due to limited resources, it may not be feasible for all women seeking NIPT to receive pretest counseling from a genetic counselor. But a qualified healthcare provider should provide nondirective pretest counseling for all women considering NIPT. diagnosis: the position of the National Society of Genetic Counselors. Noninvasive prenatal testing/noninvasive prenatal 11

12 Minkoff H, Berkowitz R. The case for universal prenatal genetic counseling. Obstet Gynecol Jun;123(6):

a new era in prenatal testing

a new era in prenatal testing TM a new era in prenatal testing TM What is? Non-Invasive Prenatal Testing (NIPT) represents a major advance in screening and risk assessment for chromosomal abnormalities. In January 2016, the UK National

More information

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. your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal

More information

Non-Invasive Prenatal Testing (NIPT) Factsheet

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.

More information

Clinical Studies Abstract Booklet

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

More information

A test your patients can trust. A company you know and trust.

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

More information

What is. PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT

What is. PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT What is PrenatalSAFE Karyo test is the most technologically advanced genome-wide NIPT Through cfdna analysis from maternal plasma, PrenatalSAFE Karyo detects: Aneuploidies structural chromosomal aberrations

More information

Objectives. Disclosures 4/22/2012. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M.

Objectives. Disclosures 4/22/2012. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M. O Brien, MD Women & Infants Hospital Alpert Medical School of Brown University Providence, RI Women & Infants

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

Complimentary and personal copy for

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

More information

COMMITTEE OPINION. Cell-free DNA Screening for Fetal Aneuploidy

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

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

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA

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

More information

Executive summary. Current prenatal screening

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

More information

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. 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

More information

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA

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

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

The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands

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

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

Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome

Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome 1 Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome Nicholas J Wald FRS* Wolfson Institute of Preventive Medicine Barts and the London School of Medicine and Dentistry

More information

Non-invasive prenatal testing. Contents:

Non-invasive prenatal testing. Contents: february 2014 A REGULAR CASE-BASED SERIES ON PRACTICAL PATHOLOGY FOR GPs Contents: What is non-invasive prenatal testing? Screening test vs diagnostic tests Case studies Who should be offered NIPT? Non-invasive

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

Panorama Non-Invasive Prenatal Screening for Microdeletion Syndromes

Panorama Non-Invasive Prenatal Screening for Microdeletion Syndromes 1 Panorama Non-Invasive Prenatal Screening for Microdeletion Syndromes MEGAN P. HALL, PH.D. INTRODUCTION Panorama TM is a non-invasive prenatal screening test for fetal chromosomal anomalies. The screening

More information

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: 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

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

Prenatal Testing Special tests for your baby during pregnancy

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

More information

Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA

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

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

MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA

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,

More information

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 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

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

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

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics American College of Medical Genetics and Genomics ACMG Statement Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

More information

cfdna in maternal plasma obtained from a population undergoing routine screening at 11-13 weeks gestation.

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;

More information

Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction. Meiosis I Meiosis II Centromere-linked markers

Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction. Meiosis I Meiosis II Centromere-linked markers Lecture 32: Numerical Chromosomal Abnormalities and Nondisjunction Meiosis I Meiosis II Centromere-linked markers Female Male 46,XX 46,XY Human chromosomal abnormalities may be numerical or structural.

More information

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 DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS -RM Clinically recognized consecutive or non consecutive pregnancy losses before

More information

Prediction of Pregnancy Outcome Using HCG, CA125 and Progesterone in Cases of Habitual Abortions

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

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

Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma

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

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

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

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

National Down Syndrome Society

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

More information

journal of medicine The new england DNA Sequencing versus Standard Prenatal Aneuploidy Screening ABSTRACT

journal of medicine The new england DNA Sequencing versus Standard Prenatal Aneuploidy Screening ABSTRACT The new england journal of medicine established in 1812 february 27, 2014 vol. 370 no. 9 DNA Sequencing versus Standard Prenatal Aneuploidy Screening Diana W. Bianchi, M.D., R. Lamar Parker, M.D., Jeffrey

More information

RESEARCH PARTICIPANT INFORMATION SHEET. Safer pre-natal diagnosis using free DNA in maternal blood test. (also known as the IONA Study)

RESEARCH PARTICIPANT INFORMATION SHEET. Safer pre-natal diagnosis using free DNA in maternal blood test. (also known as the IONA Study) RESEARCH PARTICIPANT INFORMATION SHEET Safer pre-natal diagnosis using free DNA in maternal blood test (also known as the IONA Study) REC ref: 07/H0607/101 Principal Investigator: Mr Edward Johnstone Version

More information

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...

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

More information

Basic Human Genetics: Reproductive Health and Chromosome Abnormalities

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

More information

Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies

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

More information

Cytogenetic and Molecular Diagnosis in Gestational Disorders

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

More information

Predictive Values, Sensitivity and Specificity in Clinical Virology. Alison M Kesson Infectious Diseases and Microbiology 2009

Predictive Values, Sensitivity and Specificity in Clinical Virology. Alison M Kesson Infectious Diseases and Microbiology 2009 Predictive Values, Sensitivity and Specificity in Clinical Virology Alison M Kesson Infectious Diseases and Microbiology 2009 Reality Diagnostic tests are never perfect. False positive and false negative

More information

The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report

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

More information

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 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

More information

The genetic screening of preimplantation embryos by comparative genomic hybridisation

The genetic screening of preimplantation embryos by comparative genomic hybridisation Vol. 11, Suppl. 3 51 The genetic screening of preimplantation embryos by comparative genomic hybridisation Maria V Traversa 1, James Marshall, Steven McArthur, Don Leigh Genea, Sydney, Australia Received:

More information

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 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,

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

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

The California Prenatal Screening Program

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

More information

The following chapter is called "Preimplantation Genetic Diagnosis (PGD)".

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

More information

1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects

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

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

Disclosure. Objectives 2/21/2016

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

More information

The correct answer is c A. Answer a is incorrect. The white-eye gene must be recessive since heterozygous females have red eyes.

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

More information

It is imperative that women / young women can access free pregnancy testing at a time and place that is convenient to them.

It is imperative that women / young women can access free pregnancy testing at a time and place that is convenient to them. Local Enhanced Service (LES) Specification for: Pregnancy Testing in Pharmacies Introduction Aims Service Outline: i. Pregnancy Tests ii. Performing the Test iii. Pregnancy Test Result iv. Positive Result

More information

Genetic Laboratory. imge Test. Genetic diagnosis of miscarriages. Innovators in Reproductive Genetics

Genetic Laboratory. imge Test. Genetic diagnosis of miscarriages. Innovators in Reproductive Genetics Genetic Laboratory imge Test Genetic diagnosis of miscarriages Innovators in Reproductive Genetics imge Test Identification of the causes of miscarriage Test which detects the presence of chromosomal defects

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

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

Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies

Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies Susan S. Garfield, DrPH; Shannon O. Armstrong, BA Summary Background:

More information

Patient information on soft markers

Patient information on soft markers Patient information on soft markers Before you read this section remember the following important points. The vast majority of babies with soft markers are normal. Soft markers are frequently seen in healthy

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

Developmental psychologists seek to understand how nature and nurture influence development. Class Objectives. Developing through the Lifespan

Developmental psychologists seek to understand how nature and nurture influence development. Class Objectives. Developing through the Lifespan Developing through the Lifespan Module 10: Prenatal development and Infancy Class Objectives What is Developmental Psychology? Prenatal Development Factors that influence prenatal development Development

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

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

In most developed countries, prenatal screening

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,

More information

The Perfect Storm 9/16/2014. Conflict of Interest Disclosures In relation to this presentation, I declare that there are no conflicts of interest.

The Perfect Storm 9/16/2014. Conflict of Interest Disclosures In relation to this presentation, I declare that there are no conflicts of interest. Evaluation of the Quality and Literacy of Commercial Non-Invasive Prenatal Test (NIPT) Websites Megan Bell, Debra Roter, Barbara Biesecker Conflict of Interest Disclosures In relation to this presentation,

More information

AUSTRALIA AND NEW ZEALAND FACTSHEET

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.

More information

Trisomy 13 (also called Patau s syndrome or T13)

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

More information

Clinical Significance of Placenta Previa Detected at Early Routine Transvaginal Scan

Clinical Significance of Placenta Previa Detected at Early Routine Transvaginal Scan Clinical Significance of Placenta Previa Detected at Early Routine Transvaginal Scan Paolo Rosati, MD, Lorenzo Guariglia, MD Transvaginal ultrasonography in early pregnancy was used to determine the prevalence

More information

NATIONAL DOWN SYNDROME SOCIETY

NATIONAL DOWN SYNDROME SOCIETY NATIONAL DOWN SYNDROME SOCIETY down syndrome Down syndrome affects people of all ages, races and economic levels. It is one of the most frequently occurring chromosomal abnormalities, occurring once in

More information

Preimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching

Preimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching Preimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching Andria G. Besser, BEd, MS, CGC Licensed Genetic Counselor Reproductive Genetics Institute Chicago, IL Outline PGD overview In

More information

Parvovirus B19 Infection in Pregnancy

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

More information

Prognosis of Very Large First-Trimester Hematomas

Prognosis of Very Large First-Trimester Hematomas Case Series Prognosis of Very Large First-Trimester Hematomas Juliana Leite, MD, Pamela Ross, RDMS, RDCS, A. Cristina Rossi, MD, Philippe Jeanty, MD, PhD Objective. The aim of this study was to evaluate

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

Neural tube defects: open spina bifida (also called spina bifida cystica)

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

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

Crohn's disease and pregnancy.

Crohn's disease and pregnancy. Gut, 1984, 25, 52-56 Crohn's disease and pregnancy. R KHOSLA, C P WILLOUGHBY, AND D P JEWELL From the Gastroenterology Unit, Radcliffe Infirmary, Oxford SUMMARY Infertility and the outcome of pregnancy

More information

Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood

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

More information

Outcome and future of children born after ART. M. Aboulghar Professor, Cairo University Clinical Director, The Egyptian IVF center

Outcome and future of children born after ART. M. Aboulghar Professor, Cairo University Clinical Director, The Egyptian IVF center Outcome and future of children born after ART M. Aboulghar Professor, Cairo University Clinical Director, The Egyptian IVF center Possible effects on the babies could be from 1. Prematurity and multiple

More information

Amniocentesis in the West Midlands: report on 1000 births

Amniocentesis in the West Midlands: report on 1000 births Journal of MedicalUGenetics, 1980, 17, 81-86,}, i Amniocentesis in the West Midlands: report on 1000 births TESSA WEBB,* J H EDWARDS,* A H CAMERON,t J MARGARET CRAWLEY,+ MAJ HULTEN, D RUSHTON,11 AND R

More information

Prenatal screening and diagnosis of chromosomal and genetic abnormalities in the fetus in pregnancy

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

More information

Preimplantation Genetic Diagnosis (PGD) and Childhood Diagnostic Evaluation

Preimplantation Genetic Diagnosis (PGD) and Childhood Diagnostic Evaluation IG O Preimplantation Genetic Diagnosis (PGD) and Childhood Diagnostic Evaluation KD Carsten Bergmann carsten.bergmann@bioscientia.de carsten.bergmann@uniklinik-freiburg.de Controversies Conference on ADPKD

More information

Ehlers-Danlos Syndrome Fertility Issues. Objectives

Ehlers-Danlos Syndrome Fertility Issues. Objectives Ehlers-Danlos Syndrome Fertility Issues Baltimore Inner Harbor Independence Day Brad Hurst, M.D. Professor Reproductive Endocrinology Carolinas Medical Center - Charlotte, North Carolina Objectives Determine

More information

Considering Surgery for Fibroids? Learn about minimally invasive da Vinci Surgery

Considering Surgery for Fibroids? Learn about minimally invasive da Vinci Surgery Considering Surgery for Fibroids? Learn about minimally invasive da Vinci Surgery The Condition: Uterine Fibroid (Fibroid Tumor) A uterine fibroid is a benign (non-cancerous) tumor that grows in the uterine

More information

IBGRL, NHSBT, Bristol

IBGRL, NHSBT, Bristol IBGRL, NHSBT, Bristol Valuable to know D type of fetus Fetus D-positive: at risk pregnancy should be managed appropriately Fetus D-negative: not at risk no need for intervention RHD RHCE RHD* D 37 bp

More information

The quadruple test screening for Down s syndrome and spina bifida

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

More information

3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D.

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

More information

Intrauterine Contraception: Changes in Knowledge and Attitudes Following Skills-Based Training

Intrauterine Contraception: Changes in Knowledge and Attitudes Following Skills-Based Training Between 2007 and 2010, the Office of Family Planning offered ten IUC provider trainings to a total of 249 clinicians across the state. The training covered efficacy, side effects, insertion technique,

More information

BACKGROUND PAPER. Non-Invasive Prenatal Testing (NIPT) Identifying key clinical, ethical, social, legal and policy issues

BACKGROUND PAPER. Non-Invasive Prenatal Testing (NIPT) Identifying key clinical, ethical, social, legal and policy issues BACKGROUND PAPER Non-Invasive Prenatal Testing (NIPT) Identifying key clinical, ethical, social, legal and policy issues Professor Vardit Ravitsky, University of Montreal, Canada 1 November 2015 Note The

More information

Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester

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

More information

Progress and Prospects in Ovarian Cancer Screening and Prevention

Progress and Prospects in Ovarian Cancer Screening and Prevention Progress and Prospects in Ovarian Cancer Screening and Prevention Rebecca Stone, MD MS Assistant Professor Kelly Gynecologic Oncology Service The Johns Hopkins Hospital 1 No Disclosures 4/12/2016 2 Ovarian

More information

Overview of Genetic Testing and Screening

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

More information

Chromosomes, Mapping, and the Meiosis Inheritance Connection

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

More information