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Genetic Disorders and the Fetus
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Страница 1
Table of Contents
List of Tables
List of Illustrations
Guide
Pages
Страница 7
Genetic Disorders and the Fetus Diagnosis, Prevention, and Treatment
Страница 9
Preface
Acknowledgments
Contributors
1 Genetic Counseling: Preconception, Prenatal, and Perinatal
The burden of genetic disorders and congenital malformations
Box 1.1
Factors that influence estimates of the incidence or prevalence in the newborn of a congenital malformation (CM) or genetic disorder
Incidence and prevalence of genetic disorders and congenital malformations
Congenital malformations and infant morbidity and mortality
Down syndrome
The goal and purpose of prenatal diagnosis
Prerequisites for genetic counseling
Knowledge of disease
Expertise in genetic counseling
Ability to communicate
Knowledge of ancillary needs
Empathy
Sensitivity to parental guilt
Guiding principles for genetic counseling
Accurate diagnosis
Nondirective counseling
Concern for the individual
Truth in counseling
Confidentiality and trust
Timing of genetic counseling
Parental counseling
Counselee education
Duty to recontact
Do no harm
Duty to warn
Preconception genetic counseling
Indications for preconception genetic counseling
Advanced maternal age
Paternal age
A previous fetus or child with a genetic disorder
A parent with a genetic disorder
A history of infertility
Parental carrier of a genetic disorder
A family history of a genetic disorder
Consanguinity
Environmental exposures that threaten fetal health
Identification of preconception options
Genetic counseling as a prelude to prenatal diagnosis
Informed consent
Presymptomatic or predictive testing
Expansion mutations and anticipation
Box 1.2
Selected genetic disorders with anticipation Disorders with anticipation
Disorders with suspected anticipation
Imprinting and uniparental disomy
Genotype–phenotype associations
Somatic mosaicism
Genetic counseling when the fetus is affected
Decision making
Elective abortion: decision and sequel
Testing the other children
Perinatal genetic counseling
Box 1.3
Elements of a stillbirth evaluation
Box 1.4
Action checklist following stillbirth
Family matters
The surviving children
The efficacy of genetic counseling
References
2 Preimplantation Genetic Testing
Approaches to preimplantation genetic testing
Polar body‐based preimplantation genetic testing
Preimplantation genetic testing based on embryo biopsy
Prospects for noninvasive preimplantation genetic testing
Preimplantation genetic analysis
Single‐gene disorders
De novo
mutations
Late‐onset disorders
HLA typing
Chromosomal disorders
Prevalence and origin of chromosomal errors
Aneuploidies
Structural rearrangements
Ethical and legal issues
Conclusion
References
3 Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects
Introduction
Amniotic fluid Formation and circulation
Volume
Origin
Biochemical and other characteristics of amniotic fluid
Cell‐free DNA and RNA
Proteins
Proteomics
Lipids
Enzymes
Amino acids
Disaccharidases
Origin of amniotic fluid disaccharidases
Other microvillar enzyme activities
Development of amniotic fluid disaccharidases
Clinical use of amniotic fluid disaccharidases
Miscellaneous biochemical constituents and other characteristics of amniotic fluid
Trace elements
Creatinine/cystatin C
Blood group substances
Immunoglobulins
Antibacterial activity of amniotic fluid
Bacteriostatic effect
Isolation of infectious agents
Hormones
Drugs/toxicants
Amniotic fluid cell culture
Alternatives to cell culture and metaphase karyotype analysis
Amniotic fluid cell types Cellular contents of native fluids
Colony‐forming cells: morphology and nomenclature
Biochemical characterization
Intermediate filament system
The origin of colony‐forming cell types
Cell culture and cell harvest Colony‐forming cells
Culture methods
In situ
procedure
Enhancement of amniotic fluid cell growth Enrichment techniques
Growth on extracellular matrix surface
Reduction of oxygen supply
Testing and handling fetal bovine serum
Defined growth factor supplements
Culture failure
Syringe toxicity and delayed transportation
Microbial contamination
Mycoplasma
Plastic ware and media storage
Incubator failure
Record keeping and quality control
Safety in the laboratory
Mesenchymal stem cells in amniotic fluid
References
4 Molecular Aspects of Placental Development
Overview
Placental structure
Placental development and function
Implantation
Angiogenesis
Nutrient delivery
Immune function
Placental insufficiency
Fetal growth restriction
Genetic causes of fetal growth restriction
Developmental considerations in confined placental mosaicism
Imprinting and fetal growth restriction
Preeclampsia
Early diagnosis of preeclampsia
Genetics of preeclampsia
Genetic findings associated with molar changes in the placenta
Complete hydatidiform mole
Partial hydatidiform mole
Placental mesenchymal dysplasia
DNA methylation studies in the placenta and their clinical application
Epigenetic studies in the placenta and environment
The placenta as a predictor of child health
Further considerations
References
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