| Description |
1 online resource (228 p.) |
| Contents |
Front Cover -- Prenatal Genetic Counseling -- Copyright Page -- Dedication -- Contents -- List of contributors -- Preface -- I. The Landscape of Prenatal Diagnosis -- 1 A flow from screening to diagnostics -- Introduction of combined screening -- Implementation of CFTS, effects, and public discourse -- The discussion of chromosomal microarray, karyotyping, and noninvasive prenatal testing in Denmark -- Current status -- The flow from screening to diagnosis -- The general practitioner as point of entry -- The first-trimester ultrasound scan and combined screening |
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Turnaround time and delivery of results -- The second-trimester malformation scan -- Termination of pregnancy -- Data in registries -- International comparisons -- The future -- References -- 2 From the consulting room: personal narratives of giving prenatal information about fetal anomalies -- Clinical narratives -- Clinical dilemmas -- Management options when a fetal anomaly is detected -- The concept of positive health -- Risk communication and risk perception -- Parental decision-making -- Derealization, depersonalization, and the perception of choice -- Framing -- Minimal account |
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Domains of good care -- Pitfalls -- Prerequisites for good aftercare -- Recommendations -- Acknowledgments -- References -- 3 Whole-exome sequencing: A changing landscape of prenatal counseling -- Introduction -- Lessons learned from introducing array analysis in prenatal diagnostics -- Indications -- Pretest counseling -- Possible problematic array findings: Unexpected diagnoses/incidental findings -- Possible problematic array findings: Susceptibility copy number variants for neurodevelopmental disorders -- Possible problematic array findings: Variants of unknown clinical significance |
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Posttest counseling in practice -- Whole-exome sequencing in prenatal diagnostics -- Diagnostic yield -- Indications: Is it feasible to select fetuses for prenatal whole-exome sequencing based on the prenatal phenotype? -- Pretest counseling -- Pretest counseling for genomic test in practice -- Possible problematic results from whole-exome sequencing: Variants of unknown clinical significance -- Possible problematic results from whole-exome sequencing: Unexpected diagnoses/incidental findings -- Posttest counseling -- A changing landscape of prenatal counseling -- Future perspectives |
| Notes |
Description based upon print version of record |
| Bibliography |
References -- 4 Dealing with uncertainty in prenatal genomics -- What is uncertain in prenatal genomics? -- Parents' experiences of uncertainty in the prenatal setting -- Health-care professionals' experiences of dealing with uncertainty in the prenatal setting -- Managing uncertainty-the role of counseling -- Supporting parents through decision-making -- Clarifying what is and is not known -- Encouraging parents to consider their personal values and moral standpoint -- References -- 5 Addressing diversity in prenatal genetic counseling -- Introduction |
| Notes |
Concepts of cultural, religious, and ethnic differences |
| Form |
Electronic book
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| Author |
Diderich, Karin E. M
|
| ISBN |
9780128233313 |
|
0128233311 |
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