Read more
Informationen zum Autor Amber Mathiesen, MS, LCGC, is a licensed and board-certified genetic counselor in prenatal genetics at University of Utah Health, co-director of the perinatal genetics course at the University of Utah's Graduate Program in Genetic Counseling, and a prenatal rotation supervisor. She also acts as a research committee member and mentor for various genetic counseling students.Kali Roy, MS, LCGC, is a perinatal genetic counselor at University of Utah Health and co-director of the perinatal genetics course at the University of Utah's Graduate Program in Genetic Counseling. She graduated from the University of Utah Graduate Program in Genetic Counseling and completed a Master's of Science in Human Genetics and Genomics at the University of Connecticut. Klappentext An essential new text for genetic counseling's 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 approaches Inhaltsverzeichnis 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 andAChE Other Testing 4.3 Indications for Diagnostic Testing 5. Common Indications 5.1 Age Related Risks Materna...
