Foundations of perinatal genetic counseling : a guide for counselors

Description

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 Versus 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 (G’s and P’s) 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 Accuracy Other Conditions (Referrals) Unique Situations in the Perinatal Family History Gamete Donation Same-​Sex Couples Surrogacy Adoption Ethnicity 3. Prenatal Screening Evaluation of a Screen Sensitivity Specificity Positive Predictive Value Negative Predictive Value Personal Utility Prenatal Screening Options Maternal Serum Screening Cell-​Free DNA Testing 4. Prenatal Diagnosis Techniques Chorionic Villus Sampling Amniocentesis Testing Options Karyotype Fluorescence in Situ Hybridization (FISH) Microarray Molecular Testing AFP and AChE Other Testing Indications for Diagnostic Testing 5. Common Indications Age-​Related Risks Maternal Age Paternal Age 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 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 Condition-​Directed or Ethnicity-​Based Testing Cystic Fibrosis Spinal Muscular Atrophy FMR1-​Related Disorders Ashkenazi Jewish and French Canadian/​Cajun Ethnicity Hemoglobinopathies Family History Expanded Carrier Testing 7. Pregnancy Management Reproductive Options Continuation of Pregnancy Adoption Termination Pregnancy Management Referrals Maternal–​Fetal Medicine Specialist Specialized Imaging Cardiology Neonatology Fetal Surgery or Intervention Pediatric Surgery Pediatric Specialists Pathology and Autopsy Palliative Care or Hospice Support Referrals and Bereavement 8 Assisted Reproductive Technology and Reproductive Options for the At-​Risk Couple Reproductive Options for At-​Risk Couples Assisted Reproductive Techniques Preimplantation Genetic Testing Preimplantation Genetic Screening Preimplantation Genetic Diagnosis 9. Common Perinatal Genetic Counseling Situations Pregnancy Termination Misinterpreted Intent Patient–​Provider Conflict Incidental Findings Misattributed Paternity Discovery of Consanguinity Identification of an Incidental Condition Privacy and Confidentiality Genetics Is a Family Affair Secret Information Working with Couples Couples 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 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 for Consent Patient Understanding Voluntary Participation Rapidly Evolving Technologies Appendix A Appendix B Index