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Details

Autor(en) / Beteiligte
Titel
Prenatal genetic counseling : practical support for prenatal diagnostics, decision-making, and dealing with uncertainty
Ort / Verlag
London, United Kingdom : Academic Press is an imprint of Elsevier,
Erscheinungsjahr
[2022]
Link zum Volltext
Beschreibungen/Notizen
  • 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 -- 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 -- 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 -- 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 -- 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 -- Concepts of cultural, religious, and ethnic differences -- Ethnicity -- Culture -- Collective versus individualistic culture -- Religion -- Abortion and religion -- Islam -- Other religions -- Examples of culture and religious assumptions and beliefs during pregnancy -- Inequalities in prenatal care within a multiethnic women's population -- Prenatal health-care provision -- Prenatal health-care utilization -- Practical examples -- Best practice-tailored prenatal genetic counseling -- Evidence-based strategies -- Themes to discuss in prenatal genetic counseling -- Communication -- The interpreter -- Health education -- Practical instructions -- Language barrier -- Social network -- Self-assessment -- References -- II. Patient journey and offering support -- Introduction -- References -- 6 The discovery.
  • Psychological challenges during the phase of diagnosis in decision-making -- Help couples understand the information -- Case A -- What can we learn? -- Roller coaster -- Karin Diderich -- Frederike Dekkers -- Main recommendations -- References -- 7 The iterative process of decision-making -- Karin Diderich -- Diagnosis, counseling, and decision-making -- Frederike Dekkers -- Psychological challenge for couples during this timeframe -- When the diagnosis is hard to determine -- Sam Riedijk -- Decision-making -- When couples are not in-line -- Reaching a decision -- Frederike Dekkers -- Decision to continue the pregnancy -- Jane Fisher -- Continuing a pregnancy after a diagnosis -- Methods of termination -- Frederike Dekkers -- Jane Fisher -- Ending a pregnancy after a prenatal diagnosis -- Eva Pajkrt and Liesbeth van Leeuwen -- Reflection period -- References -- 8 Ending the pregnancy -- Eva Pajkrt and Liesbeth van Leeuwen -- Dilatation and evacuation -- Induction of labor -- Mifepristone 36 hours before hospital admittance -- Hospital admittance -- Assessment of the presence of fetal heart before the termination -- Side effects and pain -- Frederike Dekkers -- Preparing for the delivery and birth -- What can we offer couples? -- Psychosocial care -- Contact with other couples -- Future pregnancies -- Case N -- What can we learn? -- Hospitalization and delivery in the case of induced labor -- Psychological challenge for couples in this time frame -- Personal feelings of the health-care professional -- Jane Fisher -- Work with health care professionals -- Frederike Dekkers -- What can we offer couples? -- Seeing and holding the baby -- Differences in mothers and fathers -- Need for practical information and more practical matters -- After delivery -- Example of ARC support: Case G -- Eva Pajkrt and Liesbeth van Leeuwen -- Birth -- Case S.
  • What can we learn? -- Case C -- What can we learn? -- Eva Pajkrt and Liesbeth van Leeuwen -- After birth -- Frederike Dekkers -- Main recommendations -- References -- 9 Grief -- Psychological challenge for couples in this time frame -- Mourning in men and women -- Support and network -- Revision appointment -- Other suggestions for the conversation -- Support for the whole family around loss after prenatal diagnosis of fetal anomaly -- Saying farewell -- Woman -- Partner -- Pregnant-nonpregnant differences -- Iris Jansen-Bakkeren -- Guiding siblings through the termination of pregnancy -- Main recommendations -- References -- 10 Building a life again -- Frederike Dekkers -- Case P -- What can we learn? -- Sam Riedijk -- Frederike Dekkers -- References -- 11 Organizing support -- The origins of Antenatal Results and Choices -- Support after termination for fetal abnormality becomes Antenatal Results and Choices -- How Antenatal Results and Choices works -- The Antenatal Results and Choices national helpline -- How the changing sociopolitical climate regarding prenatal diagnosis affects couples -- Conclusion -- References -- 12 Staying young -- student reflections -- Phase 1: the discovery -- Phase 2: decision-making -- Phase 3: the delivery -- Phase 4: after ending the pregnancy -- Reflecting on support needed throughout the process -- Discourse as a valuable learning experience -- Conclusion -- Appendix: Concluding remarks -- Acknowledgment -- Index -- Back Cover.
  • Description based on print version record.
Sprache
Identifikatoren
ISBN: 0-12-823331-1
OCLC-Nummer: 1281978009
Titel-ID: 9925022850606463
Format
1 online resource (228 pages)
Schlagworte
Prenatal diagnosis, Genetic counseling