Prenatal Genetic Testing for Chromosomal Anomalies By: Linda DeFranco.

Slides:

Advertisements

Similar presentations

NON – INVASIVE PRENATAL TESTING

Advertisements

Pregnancy Test(s). 1. Ultrasound Sound waves to take a picture of the fetus. –Rub a cool gel over the abdomen and run awand like piece of equipment over.

Prevention of Birth Defects An Overview of Primary and Secondary Strategies.

Second-trimester maternal serum screening

Prenatal Care Fetal/Maternal Assessment Techniques.

Chapter 2 Now That You’re Pregnant

Genetics and Primary Care

Non-Invasive Prenatal Testing

NON – INVASIVE PRENATAL TESTING

Prenatal diagnosis Dr Neda Bogari.

Enhanced Prenatal Screening Program

Prenatal Testing. Introduction Tests are available during pregnancy to check the health of a baby. What conditions can be found? Down syndrome. Neural.

IN THE NAME OF GOD. CRITICALLY APPRAISED TOPIC If there is a Non-invasive prenatal testing for aneuploidies with low FPR at first trimester? If we can.

Prenatal Testing.

Problems in Prenatal Development

Problems During Prenatal Development & Prenatal Testing.

 * Testing for diseases/conditions in a fetus or embryo before it is born.  * Aim is to detect birth defects  * Multiple tests that can be done each.

First Trimester Screening

Chapter 6 – Pedigree Analysis and Applications

By: Alexandria Baker October 12,2012 Parenting and Child development

Module One: Introduction to the California Prenatal Screening Program

Problems in Prenatal Development

An Ounce of Prevention  2000, 2005, 2011 The Curators of the University of Missouri Preconception Planning and Monitoring Fetal Health Twenty Questions.

Human Development: Prenatal-Toddler Problems in Prenatal Development.

2 Prenatal Tests: -Amniocentesis & -Chorionic Villus Sampling (CVS)

Prenatal Diagnosis of Congenital Malformations for Undergraduates

The Role of Prenatal screening as part of Routine Obstetric Care

Intro Until recently, couples had to choose between taking the risk or considering other options Over the past three decades, prenatal diagnosis-the ability.

Problems in Prenatal Development Section 4.2. Losing a Baby A baby’s health is a major concern for all expectant parents – Most babies develop normally.

CASE #887766S – The J. Smith Family

HIGHER HUMAN BIOLOGY Unit 2 Physiology and Health 1. Ante-natal Screening.

Chronic Villi Sampling (CVS) 1 st trimester Chorionic villi (fetal cells) scraped off & suctioned Cells and chromosomes examined Danger: 1% death.

Prenatal Screening By Karissa Parsons and Melissa Fakunle.

Erika Castro, PGY 3 Cook County-Loyola-Provident Family Medicine Residency 2/27/2014 PRENATAL SCREENING AND DIAGNOSIS COUNSELING

Genetic Testing in Pregnancy Lisbeth M. Lazaron, MD March 2013.

Non-invasive Prenatal Testing

Genetic Counseling and Prenatal Diagnosis Dr. Hassan Nasrat FRCS & FRCOG Professor Dept. Obstetrics & Gynecology King Abdulaziz University Hospital.

ZOO405 by Rania Baleela is licensed under a Creative Commons Attribution- NonCommercial-ShareAlike 3.0 Unported LicenseRania BaleelaCreative Commons Attribution-

Prenatal Screening and Diagnosis. What is Prenatal Diagnosis?  In-utero detection of fetal anomalies General population risk is 3-5% for any birth defect.

Prenatal Approach (Chromosomal) Shahram Savad MD, Medical Genetics.

Dr. Masoud Garshasbi (PhD) Department of Medical Genetics

Chapter 4.2: Problems in Prenatal Development

Amniocentesis Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities.

Intro Until recently, couples had to choose between taking the risk or considering other options Over the past three decades, prenatal diagnosis-the.

Prenatal Screening By: Rachael and Kai-Li.

KnowDNA Innovating Prenatal Testing.

Prenatal monitoring.

Antenatal Screening Rebecca Sykes.

Tests During Pregnancy

Diagnostic amniocentesis AND Chorionic villus sampling

Preimplantation Genetic Diagnosis (PGD)

DO NOT ORDER at any gestational age.

Non Invasive Prenatal Testing for Aneuploidy (NIPT)

Prenatal testing.

Chromosome Anomalies & Genetic Diseases

Chronic Villi Sampling (CVS) 1st trimester Chorionic villi (fetal cells) scraped off & suctioned Cells and chromosomes examined Danger: 1% death.

Prenatal Screening for Genetic Conditions

Hereditary Factors in Development

Following screening, genetic testing can occur during pregnancy for Down syndrome, Trisomy 18, and other conditions. Two major types of genetic testing.

NON – INVASIVE PRENATAL TESTING

FETAL MEMBRANES IN HUMAN

Problems in Prenatal Development

Prenatal Development Problems.

Ch. 4.3 Notes Problems in Prenatal Development

Most provincial and territorial health insurance programs cover prenatal blood screening for chromosomal anomalies (Down syndrome and Trisomy 18) and neural.

Nuchal translucency screening uses ultrasound to screen for Down syndrome, other conditions caused by an extra chromosome (trisomy 13 and 18), and congenital.

WHAT IS AVAILABLE WHEN? Non-invasive prenatal testing

Presentation transcript:

Prenatal Genetic Testing for Chromosomal Anomalies By: Linda DeFranco

Text  Purpose-to educate pregnant women about available genetic testing-including screenings and diagnostic testing  Audience-pregnant women in an obstetrical practice at the time of their initial visit-approximately at 8-9 weeks of pregnancy  Goals-to fully inform a pregnant women of options that are available to her for detected chromosomal abnormalities including Trisomy 13 and 18, Downs Syndrome and ONTD and other fetal chromosome abnormalities

Prenatal genetic testing Screening Non-invasive First trimester ultra screen Sequential or Quad Screen NIPT (non- invasive prenatal testing) Diagnostic invasive Amniocentesis CVS (chorionic villi sampling) OVERVIEW OF PRENATAL GENETIC TESTING

There are different prenatal tests available to pregnant women: Screening tests vs Diagnostic testing: SCREENING TESTS: First trimester screen (known as an ultra screen) -11 to 13.6 weeks of pregnancy with sonogram Sequential screen-is a blood test that is combined with the first trimester screen results -done at 16 and 21 weeks of pregnancy

Benefits of Prenatal Screening First trimester ultra screen and Sequential -non-invasive -no risk of pregnancy loss Limitations: -not all pregnancies with trisomy 13, 18 and Downs syndrome are detected. -a false positive rate of <3% -limited to the amount of chromosome abnormalities detected

NIPS Testing NIPS (non-invasive prenatal screening) -as early as 10 weeks gestation -tests fetal DNA in maternal blood -mom has to be 35 years old at delivery (to be covered by insurance) -known as Materniti 21, Verifi, Harmony, Natera Benefits -Detection rate is 99% for Downs Syndrome and Trisomy 18; and 90% for Trisomy 13 -Low false positive rate of <1% for all Limitations -a positive result needs to be followed up with an amnio or CVS -used only for singleton pregnancies

Diagnostic testing- Invasive procedures CVS (chorionic villi sampling) -done between weeks -2 different methods: transcervical and transabdominal -risk for pregnancy loss=1/300 Amniocentesis (ultrasound guided) -done at weeks Risk for pregnancy loss 1/400

Benefits of Amniocentesis and CVS: -looks directly at chromosomes -can be done with twins -CVS can be done as early as 10 weeks gestation -99.9% accurate Limitations and Risks of Amniocentesis and CVS: -miscarriage -infection -bleeding -leaking of amniotic fluid -with CVS more cells are required Future of Prenatal Genetic Testing

QUESTION What testing method is the best option for a 35 year old pregnant woman with no family history of genetic abnormalities? A.Amniocentesis B. CVS C. Sequential screen D. NIPS

References gender-disorders-in-fetusus-early/ first-trimester-combi...retrievedhttp://rap.northshorelij.com/contents/,DanaInfo= first-trimester-combi...retrieved 3/6/ yields-positive-results-for-new-prenatal-test.html?_r=0 North Shore-LI Jewish Medical Center-Division of Medical Genetics (2013), Manhasset, NY.