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Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling

9780190681098
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Description
An essential new text for genetic counselings most sought-after skillsFoundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of::· the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management· preimplantation and prenatal genetic screening and diagnosis· the structure and goals of a genetic counseling appointment· common clinical scenarios and best-practice approachesDistilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.
Product Details
OUP USA
83851
9780190681098
9780190681098

Data sheet

Publication date
2018
Issue number
1
Cover
paperback
Pages count
288
Dimensions (mm)
140 x 210
Weight (g)
340
  • Preface; Acknowledgments; Common Abbreviations; 1. Pregnancy Basics; 1.1 Pregnancy Timeline and Dating; Pregnancies are Counted in Weeks; Gestational Age versus Embryonic Age; Normal Pregnancy Timeline and Duration; Methods for Dating; Guidelines and Recommendations for Determining Dating; Tools Available for Calculating Gestational Age; 1.2 Pregnancy Care; Types of Prenatal Providers; Routine Prenatal Visits; Prenatal Panel; Complete Blood Count; Blood Type and Antibody Testing; HbA1c for Diabetes; Fetal Imaging; Complicated Pregnancies; 1.3 Documenting a Pregnancy History; Gravida and Para; Calculating Gravidity and Parity (Gs and Ps); 2. The Perinatal Genetic Counseling Appointment and Family History; 2.1 The Perinatal Genetic Counseling Session; 2.2 Obtaining a Pregnancy History; 2.3 Obtaining a Family History; 2.4 Interpreting a Family History; Mendelian Conditions; Multifactorial Conditions; Consanguinity; Birth Defects; Intellectual Disability and Autism; Pregnancy Loss and Infertility; Unknown Etiologies; Accuracy; Other Conditions (Referrals); 2.5 Unique Situations in the Perinatal Family History; Gamete Donation; Same Sex Couples; Surrogacy; Adoption; Ethnicity; 3. Prenatal Screening; 3.1 Evaluation of a Screen; Sensitivity; Specificity; Positive Predictive Value; Negative Predictive Value; Personal Utility; 3.2 Prenatal Screening Options; Maternal Serum Screening; Multiples of the Median (MoM); Calculating the Risk; Timing and Test Options; Results; Pattern Association; Follow up of Abnormal Results; Limitations of Maternal Serum Screening; Cell Free DNA Testing; Origin; Fetal fraction; Clearance; Methodology; Conditions Analyzed; Test performance; Who to offer testing to?; Multiples and Vanishing Twins; Adverse Pregnancy Outcomes; Considerations Prior to Testing; Results and Follow up; Resources; 4. Prenatal Diagnosis; 4.1 Techniques; Chorionic Villus Sampling; Twins; Risks; Limitations; Amniocentesis; Twins; Risks; 4.2 Testing Options; Karyotype; Fluorescence in situ Hybridization (FISH); Microarray; Molecular Testing; AFP &AChE; Other Testing; 4.3 Indications for Diagnostic Testing; 5. Common Indications; 5.1 Age Related Risks; Maternal Age; Paternal Age; 5.2 Personal and Family History; Single Gene Conditions; Aneuploidy; Multifactorial Conditions; Birth Defects; Intellectual Disability/Developmental Delay/Autism; Consanguinity; 5.3 Ultrasound Anomalies; Counseling for Ultrasound Anomalies; Classification of Ultrasound Findings; Estimating Risks; Ultrasound Findings in Pregnancies with Aneuploidy; Down syndrome; Trisomy 18; Trisomy 13; Turner Syndrome; Triploidy; Common Ultrasound Findings; Hallmark Ultrasound Findings Associated with Genetic Conditions; Open Neural Tube Defects; 5.4 Teratogens; 5.5 Recurrent Pregnancy Loss, Stillbirth, and Infertility; Evaluation of Pregnancy Loss and Stillbirth; Evaluation of Infertility; Male Infertility; Female Infertility; 5.6 Preconception Counseling; 6. Carrier Screening; 6.1 Background; Who Should be Offered Carrier Testing?; Carrier Screening for Gamete Donors; Timing of Screening; Evaluating Risks; Positive Test Results; Negative Results and Residual Risks; Other Types of Results; Application of a High Risk Result; Repeat Testing; Newborn Screening; 6.2 Condition Directed or Ethnicity Based Testing; Cystic Fibrosis; Spinal Muscular Atrophy; FMR1-Related Disorders; Ashkenazi Jewish and French Canadian/Cajun; Hemoglobinopathies; Family History; 6.3 Expanded Carrier Testing; 7. Pregnancy Management; 7.1 Reproductive Options; Continuation of Pregnancy; Adoption; Termination; First Trimester; Second Trimester; Later Term; Twins; 7.2 Pregnancy Management Referrals; Maternal-Fetal Medicine Specialist; Specialized Imaging; 3D Ultrasound; Echocardiography; MRI; Cardiology; Neonatology; Fetal Surgery/Intervention; Pediatric Surgery; Pediatric Specialists; Pathology/Autopsy; Palliative Care/Hospice; 7.3 Support Referrals and Bereavement; 8. Assisted Reproductive Technology and Reproductive Options for the At Risk Couple; 8.1 Reproductive Options for At Risk Couples; 8.2 Assisted Reproductive Techniques; 8.3 Preimplantation Genetic Testing; Preimplantation Genetic Screening (PGS); Preimplantation Genetic Diagnosis (PGD); 9. Common Perinatal Genetic Counseling Situations; 9.1 Pregnancy Termination; Misinterpreted Intent; Patient Provider Conflict; 9.2 Incidental Findings; Misattributed Paternity; Discovery of Consanguinity; Identification of an Incidental Condition; 9.3 Privacy and Confidentiality; Genetics is a Family Affair; Secret Information; 9.4 Working with couples; Couples in Conflict; Its not my body; 9.5 Dealing with Uncertainty; Fetal Diagnosis and Prognosis; Family History; Complex Conditions; Variants of Uncertain Significance; 9.6 Fetal Sex Disclosure; Patients Desire to Know or Not; Testing may Reveal Sex Chromosome Abnormalities (SCAs); Disorders Affecting a Specific Sex; Testing Only for Sex; Fetal Sex may be Difficult News; 9.7 Patient Questions; What would you do?; When You Dont Know the Answer; 9.8 Testing a Fetus for Adult Onset Condition; 9.9 Barriers for Consent; Patient Understanding; Voluntary Participation; 9.10 Rapidly Evolving Technologies; Appendix A; Appendix B; Index;
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