How can prenatal testing help your patients?In utero diagnosis has undergone an amazing revolution in recent years. More tests are available; the indications for prenatal diagnosis have expanded - you can now advise your patients about disorders you could not have previously detected. Medical training for obstetricians, medical geneticists, and genetic counselors has not kept pace with these developments. Clinical exposure to common and unusual problems in prenatal diagnosis is limited.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. The authors discuss the challenges of management, interpretation, and counseling.Cases used throughout emphasize three types of clinical problems:Chromosomal abnormalitiesMendelian disordersFetal structural abnormalitiesThe decision to enter the world of prenatal diagnosis should be very carefully considered by any prospective mother. Prenatal Diagnosis: Clinical Cases and Challenges will help you discuss the issues in an informed manner with your patients.
Author(s): Miriam S. Dimaio, Joyce E. Fox, Maurice J. Mahoney
Edition: 1
Publisher: Wiley-Blackwell
Year: 2010
Language: English
Pages: 136
Prenatal Diagnosis: Cases & Clinical Challenges......Page 2
Contents......Page 8
Preface......Page 10
1 Cytogenetic Abnormalities......Page 12
2 Mendelian Inheritance......Page 33
Introduction to Mendelian inheritance......Page 34
Autosomal dominant disorders......Page 35
Autosomal recessive disorders......Page 44
X-Linked disorders......Page 60
Skeletal dysplasias......Page 71
3 Non-Mendelian Inheritance......Page 77
Introduction to non-Mendelian inheritance......Page 78
Mitochondrial inheritance......Page 79
Imprinting disorders......Page 82
Multifactorial inheritance......Page 86
Autism......Page 89
4 First and Second Trimester Screening......Page 91
5 Abnormal Ultrasound Findings......Page 98
6 Common Issues in Prenatal Diagnosis......Page 109
Introduction to common issues in prenatal diagnosis......Page 110
Infertility......Page 111
Family history......Page 115
Consanguinity......Page 119
Non-paternity......Page 121
7 Fetal Infection and Teratogens......Page 122
Appendix......Page 125
Index......Page 130
