Prenatal Genetic Counseling Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty
Coordonnateurs : Riedijk Sam, Diderich Karin E.M.
1. A flow from screening to diagnostics
2. From the consulting room: personal narratives of giving prenatal information about fetal anomalies
3. Whole exome sequencing: a changing landscape of prenatal counseling
4. Dealing with uncertainty in prenatal genomics
5. Addressing diversity in prenatal counseling
Section II - Patient Journey and Offering Support
6. Introduction
7. The discovery
8. Decision-making
9. Ending the pregnancy
10. Grief
11. Building a life again
12. Organizing support
13. Staying young; student reflections
14. Concluding remarks from editors
Dr. Karin Diderich has been working as a staff member for the Department of Clinical Genetics at Erasmus MC since 2011, with prenatal genetics as her main focus area in patient care as well as in research and education. Karin is closely involved in the expansion of the possibilities of diagnostics for structural abnormalities in pregnancies. Karin is a Lecturer in the medicine curriculum and the Minor Genetics in Society. Karin studied medicine at the Erasmus University. After her MD, she performed PhD research at the department of Genetics at Erasmus MC. Karin is a member of the national VKGN Quality Committee, the Working Group on Information and Education about Prenatal Screening of the RIVM, the VKGN Working Group on Prenatal Genetics, the Working Group on Prenatal Diagnostics and Therapy (WPDT) and the Working Group on Skeletal Dysplasia.
- Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside, including health care practitioners, scientists, patients and students
- Covers use and psychological implications of technologies applied in prenatal decision-making, including NIPT, invasive testing with microarray analysis; exome sequencing; whole genome sequencing; and ultrasound screening and addresses diversity in prenatal genetic counseling
- Discusses next steps for prenatal genetic counseling research and common challenges in the clinic, with detailed case descriptions offering insights from the authors’ counseling experiences
Date de parution : 10-2021
Ouvrage de 226 p.
19x23.4 cm
Mots-clés :
Clinical genetics; clinical genomics; medical genetics; psychology and genetics; psychiatry and genetics; genetic counselor; prenatal genetics; reproductive genetics; prenatal genetic counseling; exome sequencing; prenatal counseling; congenital anomalies; midwives; genetic information; ARC; Antenatal; Array analysis; Baby; Bereaved; Birth control; Bonding; CFTS; Cesarean; Charity; Combined screening; Comfort care; Culture; D& C; Danish context; Decision-making; Diagnosis; Dilatation and curettage; Discourse; Exome sequencing; Experience; Farewell ceremony; Fear; Fetal congenital abnormality; Fetal heart; Fetus; Genetic abnormalities; Genetic counselors; Genomics; Gestation; HCP; Health illiteracy; Hospital admittance; Immigrants; Indications for WES; Individualized support; Inequalities; Information; Language proficiency; Mifepristone; Miscarriage; Misoprostol; NIPT; Noninterventional perinatal management; Postnatal attachment; Pregnancy; Pregnant women; Preimplantation genetic diagnosis; Prenatal; Prenatal counseling; Prenatal diagnosis; Prenatal testing; Religion; SATFA; Shared decision-making; Tailored perinatal care; Termination; Termination of pregnancy; Timeframe; Turner syndrome; Ultrasound; Ultrasound session; Uncertainty; Unexpected diagnoses/incidental findings; VOUS; Variants of uncertain significance; Whole-exome sequencing