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

Slides:

Advertisements

Similar presentations

NON – INVASIVE PRENATAL TESTING

Advertisements

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare This PowerPoint file contains.

NON-INVASIVE PRENATAL MOLECULAR DIAGNOSIS Recent Advances Emanuel V. Economou, Pharm. D., Ph.D., F.E.S.C.., L.F.I.B.A, I.O.M. Clinical and Research Lab.

1 QF-PCR stand-alone prenatal diagnosis: the initial London experience. Caroline Mackie Ogilvie Cytogenetics Department Guy’s Hospital London.

Polymorphism & Restriction Fragment Length Polymorphism (RFLP)

NON – INVASIVE PRENATAL TESTING

Prenatal diagnosis Dr Neda Bogari.

Trait and Sex Selection: The Arrival of Non-Invasive Prenatal Genetic Testing Jaime King, JD, PhD University of California, Hastings College of the Law.

Prenatal Genetic Testing for Chromosomal Anomalies By: Linda DeFranco.

Clinical Applications of Genetic Tests Mikenzie Lewis.

In Vitro Fertilization and Preimplantation Genetic Diagnosis

New England Fertility Institute Lifeline Cryogenics Gad Lavy, M.D., F.A.C.O.G. Life begins here…

Changes in Chromosome Number

First Trimester Screening

Laboratory methods look at your genes, which are DNA instructions you inherit from a biological mother and father Genetic tests can identify increased.

Prenatal Diagnosis of Congenital Malformations for Undergraduates

Medical genetics Dr. Lina Basel Schneider Children’s Medical Center of Israel.

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

Cytogenetics Study of Chromosomes Chromosomes 23 pairs Numbered and arranged by size and position of centromere.

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

Non-invasive Prenatal Testing

Leah Pinckney DOWN SYNDROME.  What is Down Syndrome?  A genetic disorder caused by abnormal cell division that results in an extra chromosome.  “Trisomy.

Chapter 12 Chromosomes and Human Inheritance. Impacts, Issues Video Strange Genes, Richly Tortured Minds.

UOG Journal Club: July 2013 Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies M. M. Gil, M. S. Quezada, B. Bregant,

Prenatal screening / Diagnosis. Prenatal diagnosis or prenatal screening Test carried out to determine for presence of diseases or conditions in a fetus.

Chromosomes and Human Heredity Chapter Karyotype Studies  Scientists do not only study genes – they also like to look at the chromosome at a whole.

a systematic review and meta-analysis

In The Name Of God. In The Name Of God Prenatal Diagnosis of Congenital Disorders Dr. Gita Hatamizadeh OBGYN- Infertility Fellowship Assisted professor.

Dr.Maysarah M. AL-Badran M.B.ch.B,C.A.B.O.G,F.I.C.M

Things Can Go Wrong With DNA and Chromosomes

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.

KnowDNA Innovating Prenatal Testing.

How Can You Study Human Heredity?

Prenatal monitoring.

Antenatal Screening Rebecca Sykes.

A – The reproductive system

Higher Human Biology Subtopic 12 Ante and postnatal screening

Diagnostic amniocentesis AND Chorionic villus sampling

UOG Journal Club: May 2017 Increased nuchal translucency thickness and risk of neurodevelopmental disorders S.G. Hellmuth, L.H. Pedersen, C.B. Miltoft,

UOG Journal Club: May 2017 Increased nuchal translucency thickness and risk of neurodevelopmental disorders S.G. Hellmuth, L.H. Pedersen, C.B. Miltoft,

d. Ante- natal and post-natal screening

Human Genetics part 2.

Genetic Disorders and Genetic Testing

DO NOT ORDER at any gestational age.

Jeffrey A. Kuller, MD; Sean C. Blackwell, MD

Genetic Testing Result Means. Before Genetic Testing  The result of genetic testing can be life changing.  It is important for patients and their families.

Non Invasive Prenatal Testing for Aneuploidy (NIPT)

Chapter 11 Section 3: Chromosomes and Human Heredity

Introduction to prenatal diagnosis

A picture of a person’s chromosomes.

Genetic Testing.

Abnormal Meiosis.

Genetic Counseling and Genetic Testing

Genetic Disorders – Chromosome Disorders

Complete Station Race Assignment…

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

Is there over-enthusiasm for Non-Invasive Testing?

Scene 5: Prenatal Testing You’ll have a choice between chorionic villi sampling (CVS) and amniocentesis. I’d like to know about prenatal diagnosis.

Prenatal Screening for Genetic Conditions

Expert Perspectives on NIPT

Genetic Disorders and Genetic Testing

Genetic Disorders and Genetic Testing

What are they?? How do we use them?

Ultrasound in fetal screening ( Down syndrome,…)

NON – INVASIVE PRENATAL TESTING

IN THE NAME OF GOD First trimester screening for aneuploidy

What are they?? How do we use them?

Presentation transcript:

Prenatal Approach (Chromosomal) Shahram Savad MD, Medical Genetics

Who? Age! Family History! Consanguinity! Any Pregnant

Conventional Screening First Trimester Screening ( NT, Biochemical) Second Trimester Screening (Biochemical) Cell Free Fetal DNA

First Trimester Screening Low Risk Intermediate Screening High Risk

Second Trimester Screening Low Risk Intermediate Risk High Risk

Cell Free Fetal DNA Who? When? What? What's Wrong?

Cell Free Fetal DNA (screening test) Advantage? Very Good Screening Test ( Low F.P, Low F.N, High Detection Rate) Time Limitation Non Invasive

Cell Free Fetal DNA (screening test) Disadvantage? Only T21, T18, T13 Detected by this test? (Accuracy) Sex Determination, Sex Aneuploidy, Micro deletions? Other chromosomal abnormality

Prenatal Diagnosis of Chromosomal Disorders CVS Amniocentesis PUBS Fetoscopy

Different Types of Study Chromosomal Study Karyotype FISH Molecular Study QF-PCR MLPA

Chromosomal Study(Karyotype) Advantage 1.Assessment of all chromosomes. 2.Can detect mosaicism. 3.Only single test accept for legal abortion.

Down Syndrome Karyotype

Chromosomal Translocation

Chromosomal Study(Karyotype) Disadvantage Time ( about Days) Cannot R/O single gene disorders.

Chromosomal Study(FISH) Advantages Time Disadvantages Legal Abortion False Negative Can not evaluate all chromosomes May be its not available

Down Syndrome (FISH)

Molecular Study(QF-PCR) Advantages Time 1-3 Working days Disadvantages Legal Abortion is not possible Can not R/O Mosaicism Can not evaluate all chromosomes

Down Syndrome (QF-PCR)

Molecular Study (MLPA) Advantages Time 2-3 Working days Disadvantages Legal Abortion is not possible Can not R/O Mosaicism Can not asses all chromosomes

High Risk For T21 in Screening May be Normal fetus. May be T21 or Down Syndrome. May have other chromosomal abnormality.

Case Report, Maternal Age:28, Quad. risk for Down: 1/20

Case Report, NT=2.5, Maternal Age:34, FTS risk for Down: 1/65 Cell Free Fetal DNA NORMAL Karyotype ( Inv. Of chromosome 7)

Thanks for your attention