图书简介

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 (G’s and P’s); 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; It’s 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; Patient’s 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 Don’t 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 $ https://global.oup.com/academic/product/9780190681098 $ Medical genetics; Human reproduction, growth & development; Medical counselling

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