Prenatal Diagnosis (eBook)

Miriam S. DiMaio, MSW, Senior Genetic Counselor, Department of Genetics, Yale University School of Medicine, New Haven, CT, USA Joyce E. Fox, MD, Chief, Division of Medical Genetics, Schneider Children's Hospital; Professor of Clinical Pediatrics, Albert Einstein College of Medicine, New Hyde Park, NY, USA Maurice J Mahoney, MD, JD, Professor of Genetics, Pediatrics, Obstetrics, Gynecology and Reproductive Sciences, Department of Genetics, Yale University School of Medicine, New Haven, CT, USA

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.

"This is an informative book that appears to be geared more for genetic counselors." (Doody's, 21 October 2011)

"Prenatal Diagnosis: Clinical Cases and Challenges, based on the authors' several decades of experiences, fills this gap. Real cases portray diagnostic problems as a route to the underlying biology, the available testing options, and the results that might be obtained. " (Morningstar News, 8 March 2011)