Index

An Introduction to Genetics and Fetal Medicine Deepika Deka, Narendra Malhotra

SECTION 1: UNDERSTANDING GENETICS
CHAPTER 1:An Introduction to Fetal Medicine
- FETAL CONGENITAL MALFORMATIONS
  - Common Preventable Congenital Disorders
    - Polygenic-Cleft Lip and Palate, Lethal Malformations
    - Mendelian Inheritance
- PRENATAL DIAGNOSIS
- FETAL EXAMINATION
- PRENATAL DIAGNOSTIC PROCEDURES
- AMNIOCENTESIS29–33
  - Common Indications
- CHORION VILLUS SAMPLING (CVS)34–36
  - Common Indications
- CORDOCENTESIS/FETALCORD BLOOD SAMPLING37–39
  - Common Indications
- FETAL THERAPY
  - Medical Fetal Therapy
  - Surgical Fetal Therapy45–48
- FOLLOW-UP
  - Fetal Therapy or Surgery
  - Planned Delivery
CHAPTER 2:Genetic Counseling for Obstetricians
- GENETIC COUNSELING1–3
- GENETIC COUNSELING FOR VARIOUS GENETIC DISORDERS
- KEY POINTS TO REMEMBER
- CONCLUSION
CHAPTER 3:Periconceptional Care
- INTRODUCTION
- SCOPE AND GOALS OF PCC
- PERICONCEPTIONAL COUNSELORS
- PCC COMPONENTS
- WEIGHT DISTURBANCES
- CHRONIC MEDICAL DISORDERS
- PERICONCEPTIONAL FOLIC ACID
- PERICONCEPTIONAL VITAMINS
CHAPTER 4:Recurrent Pregnancy Loss
- GENERAL BACKGROUND
- ETIOLOGY
  - Spontaneous Miscarriage
  - Recurrent Miscarriage
- CHROMOSOMAL ABERRATIONS
- INTRODUCTION
- CONCLUSION
CHAPTER 5:Teratogens and Radiation Exposure
- INTRODUCTION
- IMPORTANCE OF THE PROBLEM
- ASSESSMENT OF TERATOGENICITY OF AN AGENT
- CATEGORIES OF TERATOGENIC EXPOSURE
SECTION 2: PRENATAL SCREENING AND DIAGNOSIS
CHAPTER 6:Prenatal Biochemical Screening
- BURDEN OF DISEASE
- AIM OF SCREENING PROGRAM
- CONCLUSION
CHAPTER 7:Ultrasound
- CHROMOSOMAL DEFECTS
  - Maternal Age
  - Nuchal Translucency
  - Fetal Heart Rate (FHR)
  - Serum Biochemistry
  - New Ultrasound Markers
- MAJOR FETAL ABNORMALITIES
- TWIN PREGNANCIES
  - Determination of Chorionicity
- SCREENING FOR PRE-ECLAMPSIA
- PRACTICAL SCHEMATIC ANALYSIS FOR FETAL ANOMALIES EXTRAFETAL EVALUATION
  - Liquor Amnii
    - Quantity
    - Amniotic Bands
  - Umbilical Cord
    - Number of Vessels
    - Origin and Insertion
- FETAL EVALUATION
  - Choroid Plexii (Figs 7.29 and 7.30)
  - Cerebellum (Figs 7.31 and 7.32)
  - Cisterna Magna (Fig. 7.33)
  - Nuchal Skin (Figs 7.34 and 7.35)
  - Fetal Orbits and Face
  - Fetal Spine
  - Fetal Thorax
  - Fetal Heart
  - Fetal Abdomen
  - Fetal Skeleton
  - Fetal Biometry
- COLOR DOPPLER AND 3D IN PREDICTING FETAL WELLBEING
  - Significance of Notch
- DOPPLER VELOCIMETRY IN HIGH-RISK PREGNANCIES
- CONCLUSION
- CURRENT AND FUTURE TRENDS
- CLINICAL APPLICATIONS
  - First Trimester Studies
  - Second Trimester Fetal Anomalies
    - Fetal Face
  - Umbilical Cord
  - Volume Measurements
  - Limitations of 3D US
- FUTURE DIRECTIONS
- DEFINITION AND BACKGROUND
- SONOGRAPHIC MARKERS FOR DOWN'S SYNDROME (TRISOMY 21)
  - Overview of Markers
  - Major Markers
  - Minor Markers
- SENSITIVITY OF MARKER DETECTION
- SIGNIFICANCE OF INDIVIDUAL MARKERS
- TRISOMY 18 (EDWAR'D SYNDROME)
- TRISOMY 13 (PATAU'S SYNDROME)
- TURNER'S SYNDROME (XO)
- TRIPLOIDY
- GENETIC SONOGRAPHY AFTER FIRST TRIMESTER SCREENING
CHAPTER 8:Invasive Techniques
- INDICATIONS
- PROCEDURE
  - Abdominal
  - Transcervical Route
  - Postprocedure Care
- COMPLICATIONS
- PREGNANCY LOSS
- ACCURACY OF CVS CYTOGENETIC RESULTS
- CONCLUSION
- INTRODUCTION
- ORIGIN OF AMNIOTIC FLUID
- FUNCTIONS OF AMNIOTIC FLUID
- CONSTITUENTS OF AMNIOTIC FLUID
- INDICATIONS FOR AMNIOCENTESIS
- TIMING OF AMNIOCENTESIS
- COMPLICATIONS
- INTRAPROCEDURAL COMPLICATIONS
  - Needle Injury
  - Blood Contamination
  - Orthopedic Abnormalities
- POSTPROCEDURAL COMPLICATIONS
  - Procedure Related Miscarriages
  - Premature Rupture of Membranes
  - Respiratory Abnormalities
- CONCLUSION
- INTRODUCTION
- PROCEDURE
- INDICATIONS
  - Hematological Diseases
  - Fetal Structural Abnormality
  - Intrauterine Infection
  - Nonimmune Hydrops (NIH)
  - Intrauterine Growth Restriction (IUGR)
  - Fetal Therapy
- COMPLICATIONS
- CONCLUSION
CHAPTER 9:Laboratory Techniques in Prenatal Diagnosis of Genetic Disorders
- CHROMOSOMAL DISORDERS
- MUTATION DETECTION
- THALASSEMIAS
- HEMOPHILIA A AND B
  - Management and Associated Problems
- FACTOR VIII GENE POLYMORPHISMS
- FACTOR IX GENE POLYMORPHISMS
  - Molecular Genetic Testing
    - Clinical Testing
- LINKAGE ANALYSIS IN HEMOPHILIA A AND B
SECTION 3: INTRAUTERINE GROWTH RESTRICTION
CHAPTER 10:Maternal-fetal Work-up and Management in Intrauterine Growth Restriction (IUGR)
- INTRODUCTION
- CLINICAL SIGNIFICANCE AND INCIDENCES
- ASYMMETRIC vs SYMMETRIC GROWTH RETARDATION
- MATERNAL FETAL RISK FACTORS
- FETAL CAUSES
- STEPS OF MANAGEMENTS
- CONCLUSION
SECTION 4: FETAL DISEASES AND THEIR MANAGEMENT
CHAPTER 11:Fetal Infections
- INCIDENCE
- MATERNAL FETAL TRANSMISSION
- CONGENITAL TORCH COMPLEX
CHAPTER 12:Rh Disease
- INTRODUCTION
- HISTORY
- PATHOPHYSIOLOGY
- ROUTINE Rh SCREENING AND OBSTETRIC HISTORY
  - Rh Titer
  - Rh Typing of Fetus
- FACTORS INFLUENCING Rh(D) IMMUNIZATION
- MANAGEMENT OF Rh ISO-IMMUNIZED PREGNANCIES
  - Technique
  - Ultrasound Assessment
- INVASIVE TESTING OF THE FETUS
- PROCEDURE
CHAPTER 13:Biochemical Defects
- INTRODUCTION
  - Working Classification of Metabolic Errors
- BIOCHEMICAL DEFECTS WITH RELEVANCE TO FETAL MEDICINE
- IDENTIFYING METABOLIC ERROR IN NEWBORN
- IMPORTANCE OF CONFIRMING DIAGNOSIS
- ILLUSTRATION OF VARIOUS INBORN ERRORS OF METABOLISM (FIGS 13.6 TO 13.13)
- ACKNOWLEDGMENTS
CHAPTER 14:Fetal Reduction
- INTRODUCTION
- BACKGROUND
- MEDICOLEGAL ISSUES AND PSYCHOLOGICAL IMPACT
- PROCEDURE
- METHODS
  - Prerequisites
- TECHNIQUE
- OTHER METHODS
- POTASSIUM CHLORIDE
- COMPLICATIONS
- FAILED REDUCTION
- SELECTIVE REDUCTION
- STUDIES ON FETAL REDUCTION
- CONCLUSION
CHAPTER 15:Fetal Gastrointestinal Tract Defects
- INTRODUCTION
- U/S APPEARANCES OF THE NORMAL FETAL GASTROINTESTINAL TRACT
  - Esophagus and Stomach
  - Small Bowel and Colon
- GASTROINTESTINAL OBSTRUCTION
- THE HEPATOBILIARY SYSTEM AND THE SPLEEN
  - Sonoanatomy
  - Sonopathology
- CONCLUSION
SECTION 5: NEONATAL MANAGEMENT
CHAPTER 16:Neonatal Surgery for Congenital Malformations and Prognosis
- NONGENITOURINARY MALFORMATIONS
- GENITOURINARY MALFORMATIONS
CHAPTER 17:Fetal/Neonatal Autopsy
- INTRODUCTION
- OPTIONAL SPECIAL STUDIES
  - Specimen Collection
    - Cytogenetic Studies
    - Histology
- ACKNOWLEDGMENTS
SECTION 6: FUTURE OPTIONS
CHAPTER 18:Preimplantation Genetic Diagnosis
- INTRODUCTION
- BIOPSY PROCEDURES
- GENETIC ANALYSIS TECHNIQUES
- CONCLUSION
CHAPTER 19:Noninvasive Prenatal Diagnosis from Fetal DNA in Maternal Circulation
- FETAL NUCLEATED CELLS IN MATERNAL BLOOD
- CONCLUSION
SECTION 7: ETHICAL AND LEGAL ISSUES
CHAPTER 20:Legal and Ethical Issues of Prenatal Diagnosis and Therapy
- INTRODUCTION
- BIOETHICAL PRINCIPLES
- ETHICAL ISSUES OF PRENATAL DIAGNOSIS
  - Views of opponents of Prenatal Diagnostic Testing and Abortion of the Affected Fetus
  - Views of Proponents of Prenatal Diagnostic Tests and Abortion
- ETHICS OF THE MATERNAL/FETAL RELATIONSHIP
- ETHICAL ISSUES OF FETAL THERAPY
- ETHICAL GUIDELINES FOR GENETIC COUNSELING
  - Ethical Concerns of Human Genome Project
- FIGO GUIDELINES FOR PRENATAL TESTING
CHAPTER 21:Amendment of the MTP Act
- TERMINATION OF PREGNANCY
- DEFINITION OF MTP
- FOR APPROVAL OF A PLACE
  - Composition and Tenure of District Level Committee
- REQUIREMENT FOR APPROVAL OF A PLACE
SECTION 8: MISCELLANEOUS
CHAPTER 22:Nonimmune Hydrops Fetalis
- INTRODUCTION
- CLASSIFICATION
- PATHOPHYSIOLOGY
- DIAGNOSIS AND ANTENATAL MANAGEMENT
- ULTRASOUND EXAMINATION
- ETIOLOGY1,4,8,10,11,13,15,17–19,21,23,25,26
- DIAGNOSTIC APPROACH TO THE FETUS WITH HYDROPS26
- FETAL THERAPY
- OUTCOME
- CONCLUSION
CHAPTER 23:Ultrasound Diagnosis of Intrauterine Fetal Growth Restriction (FGR)
- INTRODUCTION
- DEFINITION OF IUGR/FGR
- ETIOLOGY
- UTERINE ARTERY DOPPLER MEASUREMENT
- OTHER FETAL VESSELS

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Chapter Notes