Oya Demirci, Güher Bolat, Mucize Özdemir, Ayşenur Celayir

Slides:



Advertisements
Similar presentations
Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings PowerPoint Lectures for Biology, Seventh Edition Neil Campbell and Jane Reece.
Advertisements

Prevention of Birth Defects An Overview of Primary and Secondary Strategies.
Non-molar triploidy followed by triploid molar pregnancy in a patient with recurrent miscarriage Introduction Recurrent miscarriage, defined as loss of.
Prenatal diagnosis (PND) in Joubert syndrome Dan Doherty, MD/PhD.
FOLLOWING PATTERNS OF INHERITANCE. GENETIC TESTS Types of Genetic Tests a)Karyotype b)Fluorescence in situ hybridization c)Gene testing d)Biochemical.
Prenatal Diagnosis of Biliary Atresia
Prenatal Genetic Testing for Chromosomal Anomalies By: Linda DeFranco.
Human Heredity and Genetic Disorders
DNA diagnostics. What can we detect ? Monogenic and polygenic inherited diseases Some types of tumors Disease progress during the therapy Identification.
TEMPLATE DESIGN © Retrospective Analysis of Amniocentesis in UKMMC ZulidaR, MAJamil Universiti Putra Malaysia, UPM Serdang,
Amirkabir imaging center dr.m.ali mohammadi 2011.
Chapter 14: Genetic Screening and Counselling. Higher Human Biology Unit 1: Cell Function and Inheritance 07/09/20151Mrs Smith: Ch14: Genetic Screening.
Chapter 6 – Pedigree Analysis and Applications
__________________________ Genetic screening: to identify those with an increased risk of inheriting a disorder Often tied to ethnic background May involve.
Human Genetic Disorders
Human Female Karyotype
Genetic Disorders Diseases. What is a Genetic Disorder or Disease? A genetic disorder is an abnormal condition that a person inherits through genes or.
Human Genetic Disorders
MAJOR EVENTS AND EVOLUTION IN CYSTIC FIBROSIS PATIENTS Author: Alexandra Martin Coordinator: Dr. Reka Borka Balas University of Medicine and Pharmacy Târgu-
Karyotypes and Pedigrees
The Role of Prenatal screening as part of Routine Obstetric Care
Types of Biliary Atresia
Today’s Agenda…  Bellringer: Life Science Multiple Choice Questions  Discuss homework from last night  Notes on Human Genetic Disorders.
GENETIC DISEASES. Define disease abnormal condition affecting the body of an organism – may be caused by external factors or it may be caused by internal.
CASE #887766S – The J. Smith Family
Human Genetic Disorders Notes. What causes genetic disorders? Mutations, or changes in a person’s DNA.
HIGHER HUMAN BIOLOGY Unit 2 Physiology and Health 1. Ante-natal Screening.
Mutations & Diseases. Nondisjunction: Missing 1 chromosome LETHAL! Results from non- disjunction –Chromosomes do not separate properly Miscarriage.
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.
Dr Shuhaila Ahmad Associate Professor FetoMaternal Unit UKMMC.
Mutations & Diseases. Missing 1 chromosome LETHAL! Results from non- disjunction- _________________ _______________ Miscarriage Pg. 401.
Genetic Testing in Pregnancy Lisbeth M. Lazaron, MD March 2013.
Reproductive Technologies. Intro to Reproductive Technologies  For most of a pregnancy you wonder about who your baby will look like, who will it behave.
Topic Review Biliary atresia Division of gastroenterology Department of pediatric YUMC R3 허윤정.
Chapter 11-3 Chromosomes & Human Heredity. Focus Questions: How are Karyotypes used to study genetic disorders? What is the role of Telomeres? How is.
Prenatal Approach (Chromosomal) Shahram Savad MD, Medical Genetics.
Modes of Inheritance Genetic Disorders: A disease or debilitating condition that has a genetic basis (carried by genes on chromosomes) Genetic Disorders.
Patient no 7 Primary Biliary Cirrhosis Lipoprotein X
Amniocentesis Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities.
ATYPICAL VASCULAR COMMUNICATION BETWEEN INTRA-ABDOMINAL AORTA AND UMBILICAL VEIN IN A FETUS WITH DOWN SYNDROME: A CASE REPORT DR BURCU AYKAN YÜKSEL ANTALYA.
Fetal Testing.
Prenatal Screening By: Rachael and Kai-Li.
Prenatal monitoring.
Antenatal Screening Rebecca Sykes.
A – The reproductive system
Higher Human Biology Subtopic 12 Ante and postnatal screening
A case report of a boy with unusual presentation of cleidocranial dysplasia - whole exome sequencing ends 10 years of diagnostic odyssey or does it really?
PERINATAL OUTCOMES IN CASES WITH SINGLE UMBILICAL ARTERY
Universtity of Texas Medical Branch, Department of Pediatrics PGY-III
Ziya Kalem,MD Gurgan Clinic IVF and Women Health Center
Karyotyping  .
Karyotypes Objective: 6H - describe how techniques such as DNA fingerprinting, genetic modifications, and chromosomal analysis are used to study the genomes.
Jeffrey A. Kuller, MD; Sean C. Blackwell, MD
Multidisciplinary counselling reduces rate of abortion and improves clinical outcomes of prenatally diagnosed congenital heart disease patients.
Biliary Atresia Dr. Altan Alim
UOG Journal Club: August 2018
A picture of a person’s chromosomes.
Prenatal testing.
Genetic Counseling and Genetic Testing
Primary biliary cirrhosis, AMA negative
KEY CONCEPT A ___________ of ______ is used to study _____ ________.
Chromosome Anomalies & Genetic Diseases
Chronic Villi Sampling (CVS) 1st trimester Chorionic villi (fetal cells) scraped off & suctioned Cells and chromosomes examined Danger: 1% death.
Scene 5: Prenatal Testing You’ll have a choice between chorionic villi sampling (CVS) and amniocentesis. I’d like to know about prenatal diagnosis.
Genetic Diseases & Pedigrees
Key Area 2.4 – Ante- and Post-natal Screening
CSIM2.4. Diagnosis 2 Dr. Moe Kyaw Thu
WHAT IS AVAILABLE WHEN? Non-invasive prenatal testing
Presentation transcript:

Non-visualization of the gallbladder on fetal ultrasound: Prenatal findings and postnatal outcome Oya Demirci, Güher Bolat, Mucize Özdemir, Ayşenur Celayir Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Perinatology Department

Case 26 years old primigravida woman. At 22 weeks’ gestation on detailed examination Hyperechogenic fetal bowel was seen. The gallbladder could not be visualized. Amniocentesis was performed at 23  weeks

Normal karyotype was established. CFTR gene mutation was not detected. Ƴ-glutamyl transpeptidase and intestinal alkaline phosphatase were investigated. Normal development or bening gallbladder agenesis Severe anomaly such as biliary atresia.

Amniotic fluid digestive enzyme activities gamma-glutamyl transpeptidase (GGTP) value : At the 10 th percentile Intestinal alkaline phosphatase : Low value.

37 weeks, 2780 g female neonate Normal clinical and biochemical findings On postnatal ultrasound examination : The small gallbladder Normal bile duct and common hepatic duct

Conclusion Non-visualization of the fetal gallbladder Associated with: Gallbladder agenesis Biliary atresia Cystic fibrosis Chromosomal abnormalities

Genetic consultation Amniocentesis for fetal karyotyping Screening for a CFTR gen mutation Analysis of digestive enzymes GGTP and intestinal alkaline phosphatase

Before 22 weeks' gestation Low amniotic fluid digestive enzyme activities →Biliary atresia After 22 weeks’ gestation Low amniotic fluid digestive enzyme activities →Physiological

Result Our case, Low intestinal alkaline phosphatase level Normal bile duct, common hepatic duct This result may be due to Amniosentesis after 22 weeks’ gestation