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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 {buyButton}

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