Prenatal Diagnosis – Clinicla Cases and Challenges

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

Introduction. Chapter 1 Cytogenetic Abnormalities. Introduction to cytogenetic abnormalities. Common aneuploidy recurrence risks and counseling pitfalls. Chromosomal mosaicism prenatal diagnosis. Chromosomal mosaicism postnatal diagnosis. Reciprocal translocations and structural abnormalities. Robertsonian translocations. Sex discrepancies. Chapter 2 Introduction to Mendelian Disorders. Chapter 3 Autosomal Dominant Disorders. Features of autosomal dominant inheritance. Polycystic kidney disease. Hereditary non-polyposis colon cancer. Huntington disease. Marfan syndrome. Retinoblastoma. Tuberous sclerosis. Chapter 4 Autosomal Recessive Disorders. Features of autosomal recessive inheritance. Congenital adrenal hyperplasia. Cystic fibrosis. Spinal muscular atrophy. Hemoglobinopathies. Fanconi anemia. Maple syrup urine disease. Chapter 5 X-linked Disorders. Features of X-linked inheritance. Duchenne muscular dystrophy. Hunter syndrome. Fragile X syndrome Factor VIII deficiency. X-linked adrenoleukodystrophy. Chapter 6 Mitochondrial Inheritance. Features of mitochondrial inheritance. Leigh syndrome. Chapter 7 Multifactorial Inheritance. Features of multifactorial inheritance. Multifactorial inheritance. Chapter 8 Abnormal Ultrasound Findings. Recurrent hypotonia and polyhydramnios. Holoprosencephaly. Abnormalities of the digits. Multicystic kidneys. Omphalocele. Recurrent fetal hydrops. Nonmotile ciliopathies. Chapter 9 Skeletal Dysplasias. Achondroplasia and hypochondroplasia. Osteogenesis imperfecta type II. Short rib polydactyly syndromes. Chapter 10 Imprinting Disorders. Chapter 11 First and Second Trimester Screening Tests. Chapter 12 Infertility. Chapter 13 Family History. Chapter 14 Consanguinity. Chapter 15 Non-paternity. Chapter 16 Fetal Infection. Chapter 17 Teratogens. Chapter 18 Autism. Chapter 19 Glossary.