Foundations of Perinatal Genetic Counseling - A Guide for Counselors (Genetic Counseling in Practice), 2e

Foundations of Perinatal Genetic Counseling is the first book to provide a practical introduction to the concepts and skills needed to practice genetic counseling with clients before and during pregnancy. In this new edition, the authors provide a revised and updated overview of these concepts including pregnancy basics, information of the perinatal genetic counseling session and family history, testing options and procedures (e.g., diagnostic testing, screening, carrier screening, assisted reproductive technology), common indications, pregnancy management, common counseling situations, and suggested learning activities. With newly expanded material, updated guidelines, and discussions on technological and procedural advancements in the field, Foundations of Perinatal Genetic Counseling: Second Edition is an essential companion for both the classroom and the clinic. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of the most pertinent information for new learners and practicing counselors. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end. Cover Series Foundations of Perinatal Genetic Counseling Copyright Dedication Contents Preface Acknowledgments Abbreviations 1. Pregnancy Basics Pregnancy Timeline and Dating Pregnancies Are Counted in Weeks Gestational Age vs. Embryonic Age Normal Pregnancy Timeline and Duration Methods for Dating Guidelines and Recommendations for Determining Dating Tools Available for Calculating Gestational Age 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 Documenting a Pregnancy History Gravida and Para Calculating Gravidity and Parity (Gs and Ps) 2. The Perinatal Genetic Counseling Appointment and Family History The Perinatal Genetic Counseling Session Obtaining a Pregnancy History Obtaining a Family History Interpreting a Family History Mendelian Conditions Multifactorial Conditions Consanguinity Birth Defects Intellectual Disability and Autism Pregnancy Loss and Infertility Unknown Etiologies Limitations of Family History-Related Risk Assessment Other Conditions and Referrals Unique Situations in the Perinatal Setting Third-Party Reproduction Same-Sex Partnerships Transgender Patients Gestational Carriers and Surrogacy Adoption Ethnicity/Ancestry 3. Prenatal Screening Evaluation of a Screen Sensitivity Specificity Positive Predictive Value Negative Predictive Value Bayes’ Analysis Personal Utility Prenatal Screening Options Biochemical Screening Prenatal Cell-Free DNA Screening 4. Prenatal Diagnosis Techniques Chorionic Villus Sampling Amniocentesis Laboratory Testing Options Karyotype Fluorescence in situ Hybridization Microarray Targeted Gene Testing Single-Gene Testing Panel Testing Whole Exome/Genome Sequencing Alpha-fetoprotein and Acetylcholinesterase Other Testing Indications for Diagnostic Testing 5. Common Indications Age-Related Risks Age of the Individual Contributing the Ovum Age of the Individual Contributing the Sperm Personal and Family History Single-Gene Conditions Aneuploidy Multifactorial Conditions Birth Defects Intellectual Disability, Developmental Delay, and Autism Consanguinity Ultrasound Anomalies Counseling for Ultrasound Anomalies Classification of Ultrasound Findings Estimating Risks Ultrasound Findings in Pregnancies with Aneuploidy Common Ultrasound Findings Hallmark Ultrasound Findings Associated with Genetic Conditions Open Neural Tube Defects Teratogens Recurrent Pregnancy Loss, Stillbirth, and Infertility Evaluation of Pregnancy Loss and Stillbirth Evaluation of Infertility Preconception Counseling 6. Carrier Screening and Newborn Screening Carrier Screening Background Who Should Be Offered Carrier Screening? Carrier Screening for Gamete Donors Testing Options Timing of Screening Evaluating Risks Positive Test Results Negative Results and Residual Risks Affected or Carriers at Risk for Symptoms Variant Interpretation and Updates Application of a High-Risk Result Repeat or Additional Testing Carrier Screening Panels (Expanded Carrier Screening) Condition-Directed or Ethnicity-Based Screening Cystic Fibrosis Spinal Muscular Atrophy FMR1-Related Disorders Ashkenazi Jewish and French Canadian/Cajun Ethnicity Hemoglobinopathies Family History Newborn Screening Conditions Screened Process Perinatal Provider’s Role 7. Pregnancy Management Reproductive Options Continuation of Pregnancy Adoption Termination Pregnancy Management Referrals Maternal–Fetal Medicine Specialist Specialized Imaging Cardiology Neonatology Fetal Surgery or Therapy Pediatric Surgery Pediatric Specialists Pathology and Autopsy Palliative Care Support Referrals and Bereavement 8. Assisted Reproductive Technology and Reproductive Options Reproductive Options Assisted Reproductive Techniques Preimplantation Genetic Testing Preimplantation Genetic Testing for Aneuploidy Preimplantation Genetic Testing for Structural Rearrangements Preimplantation Genetic Testing for Monogenic Conditions Preimplantation Genetic Testing for Polygenic Conditions 9. Common Perinatal Genetic Counseling Situations Pregnancy Termination Misinterpreted Intent Fear of Judgment Provider Conflict Barriers to Access Incidental Findings Misattributed Identity of Individual Contributing the Sperm Discovery of Consanguinity Identification of an Incidental Condition Privacy and Confidentiality Genetics Is a Family Affair Secret Information Working with Partners Partners in Conflict “It’s Not My Body” Dealing with Uncertainty Fetal Diagnosis and Prognosis Family History Complex Conditions Variants of Uncertain Significance Fetal Sex Disclosure Terminology Patient’s Desire to Know or Not Testing May Reveal Sex Chromosome Abnormalities Disorders Affecting a Specific Sex Testing Only for Sex Fetal Sex May Be “Difficult News” Patient Questions “What Would You Do?” When You Don’t Know the Answer Testing a Fetus for Adult Onset Conditions Barriers to Consent Patient Understanding Voluntary Participation Rapidly Evolving Technologies appendix a: guidelines appendix b: resources appendix c: suggested activities index