Prenatal Diagnosis Cases and Clinical Challenges

Prenatal Diagnosis: Cases and Clinical Challenges uses examples and guidelines to show obstetrician-gynecologists and genetic counselors how to explain and discuss the complicated concepts and potentially difficult consequences of prenatal genetic testing with parents-to-be. Based on the experience of two internationally leading schools, the book explores issues surrounding the ls"why to testrs" questions and the potentially complex situations and decisions that arise from the results.

Miriam DiMaio, BS, MSW, Senior Genetic Counselor, Yale School of Medicine

Joyce E. Fox, MD, Professor of Clinical Pediatrics, Albert Einstein College of Medicine, NY

Professor Maurice J Mahoney, MD, JD, Professor of Genetics, Pediatrics and Obstetrics and Gynecology, Yale School of Medicine

Part 1: Introduction and context.1. Introduction to Prenatal Diagnosis.a. scope and evolution of the field.b. fetal development.c. basic concepts in genetics.2. Underlying basis of genetic disease/birth defects.a. chromosomal abnormalities.b. single gene disorders.c. mitochondrial.d. multifactorial/environmental.e. imprinting.2. Overview of Currently Used Procedures in Prenatal Diagnosis.a. chorionic villus sampling.b. amniocentesis.c. fetal tissue sampling.d. sonographic imaging.e. laboratory methods.-cytogenetics.-FISH.-aCGH.-other molecular.-biochemical.f. screening test.g. analysis of fetal DNA in maternal blood/plasma.3. Assessing Risks of Birth Defects.a. age.b. medical history.c. family history/pedigree assessment.d. screening tests..Part 2: Case presentations that illustrate the following:.Cytogenetic abnormalities.Aneuploidy.Mosaicism.Structural rearrangements.-de novo.-inherited.Application of new technology..Modes of Inheritance.Classic Mendelian.-autosomal dominant.-autosomal recessive.-X-linked..Atypical/Single gene.- fragile X syndrome.Mitochondrial..Uniparental Disomy.-imprinting.-expression of autosomal recessive disease.Anticipation.-trinucleotide repeat expansions.Other.First and second trimester screening.aneuploidy.neural tube defects/open body defects.increased NT.low estriol.markedly aberrant values.pregnancy complications.Population Screening and Prenatal Diagnosis for Common Conditions.cystic fibrosis.fragile X Syndrome.spinal muscular atrophy.Connexin 26.Ethnic-based screening.hemoglobinopathies.Ashkenazi Jewish disorders.other inbred populations.Approaches to Prenatal Diagnosis for Mendelian disorders - common and rare.coagulopathies.hemoglobinopathies.congenital Adrenal Hyperplasia.immune Deficiencies.muscular dystrophy.skeletal dysplasias.fibrillinopathies.storage Disorders.Other metabolic disorders.Biochemical Analysis of Amniotic Fluid/Amniocytes/Chorionic Villi.AFP.metabolic disorders..Mid-life Onset Mendelian Disorders .cancer.neurologic disease.kidney disease..Multifactorial disease.neural tube defects.congenital heart disease.facial clefting.autoimmune disease.autism...Miscellaneous issues.teratogens.infections.multiple gestation.maternal disease states and birth defect risks.laboratory error.non paternity.pregnancy termination.cerebral palsy.consanguinity.common pitfalls in prenatal diagnosis.Sonographic Imaging.aneuploidy soft signs.neural tube defects.skeletal dysplasia.sex reversal.kidney disease.Assisted Reproductive Technologies.recurrent pregnancy loss.infertility including male infertility