| Description |
1 online resource (2122 pages) |
| Contents |
Dedication; Title page; Copyright; Preface; Acknowledgements; List of Contributors; 1 Genetic Counseling: Preconception, Prenatal, and Perinatal; Incidence, prevalence and burden of genetic disorders and congenital malformations; The goal and purpose of prenatal diagnosis; Prerequisites for genetic counseling; Guiding principles for genetic counseling; Preconception genetic counseling; Genetic disorders that threaten maternal health; Maternal genetic disorders that may threaten fetal health and survival; Genetic disorders that pregnancy may aggravate; A history of infertility |
|
Parental carrier of a genetic disorderA family history of a genetic disorder; Consanguinity; Environmental exposures that threaten fetal health; Identification of preconception options; Genetic counseling as a prelude to prenatal diagnosis; Genetic counseling when the fetus is affected; Perinatal genetic counseling; References; 2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling; Introduction; Amniocentesis; Chorionic villus sampling; Fetal blood sampling; References; 3 Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects; Introduction; Amniotic fluid |
|
Amniotic fluid cell culturePrenatal diagnosis of neural tube defects (NTDs); References; Additional References; 4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis; The incidence of chromosomal abnormalities detected by conventional cytogenetics; Indications for prenatal cytogenetic diagnosis; Interpretation issues: chromosome mosaicism and pseudomosaicism; Interpretation issues: chromosome rearrangements; Interpretation issues: chromosome polymorphisms, common inversions, and other structural variations |
|
Interpretation issues: maternal cell contaminationFactors affecting diagnostic success rate and accuracy; Technical standards for prenatal cytogenetics laboratories; Conclusion; Acknowledgments; References; 5 Prenatal Diagnosis of Sex Chromosome Abnormalities; Incidence; Patterns of inheritance; Prenatal diagnosis; Turner syndrome; Klinefelter syndrome; Triple X and poly-X syndromes; 47,XYY males; Structural abnormalities of the X chromosome; Structural abnormalities of the Y chromosome; Disorders of sex development; Ovotesticular disorders of sex development; Conclusion; References |
|
6 Molecular Cytogenetics and Prenatal DiagnosisMicrodeletions; Subtle/cryptic rearrangements; Identification of marker chromosomes; Structural rearrangements: duplications; Prenatal diagnosis: interphase analysis; Chorionic villus samples; Interphase studies: fetal cells in maternal blood; Interphase analysis: transcervical and uterine cavity samples; Interphase analysis: preimplantation genetic diagnosis; Conclusion; References; 7 Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations; Introduction; Epidemiology; Clinical involvement in those with the full mutation |
| Summary |
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text |
| Notes |
Clinical phenotype in the premutation |
| Bibliography |
Includes bibliographical references at the end of each chapters and index |
| Notes |
English |
|
Print version record |
| Subject |
Fetus -- Diseases.
|
|
Fetus -- Abnormalities.
|
|
Genetic disorders.
|
|
Fetus -- Diseases -- Diagnosis.
|
|
Fetal Diseases
|
|
Genetic Diseases, Inborn
|
|
MEDICAL -- Gynecology & Obstetrics.
|
|
Fetus -- Abnormalities
|
|
Fetus -- Diseases
|
|
Fetus -- Diseases -- Diagnosis
|
|
Genetic disorders
|
| Form |
Electronic book
|
| Author |
Milunsky, Jeff M
|
| LC no. |
2015034221 |
| ISBN |
9781118981542 |
|
1118981545 |
|
9781118981535 |
|
1118981537 |
|
1118981553 |
|
9781118981559 |
|
