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[null,"1.","Record Nr.",null,"UNINA9910821681903321"]
[null,null,"Titolo",null,"Genetic disorders and the fetus : diagnosis, prevention, and treatment / / edited by Aubrey Milunsky MB BCh, DSc, FRCP, FACMG, DCH, Jeff M. Milunsky MD, FACMG"]
[null,null,"Pubbl/distr/stampa",null,"Hoboken, New Jersey : , : Wiley Blackwell, , 2016"]
[{"$nulls":4},"©2016"]
[null,null,"ISBN",null,"1-118-98154-5"]
[{"$nulls":4},"1-118-98155-3"]
[{"$nulls":4},"1-118-98153-7"]
[null,null,"Edizione",null,"[Seventh edition.]"]
[null,null,"Descrizione fisica",null,"1 online resource (2122 p.)"]
[null,null,"Disciplina",null,"618.3/2075"]
[null,null,"Soggetti",null,"Prenatal diagnosis"]
[{"$nulls":4},"Fetus - Diseases - Genetic aspects"]
[{"$nulls":4},"Fetus - Abnormalities - Genetic aspects"]
[null,null,"Lingua di pubblicazione",null,"Inglese"]
[null,null,"Formato",null,"Materiale a stampa"]
[null,null,null,"Livello bibliografico","Monografia"]
[null,null,null,"Note generali","Description based upon print version of record."]
[null,null,null,"Nota di bibliografia","Includes bibliographical references at the end of each chapters and index."]
[null,null,"Nota di contenuto",null,"Dedication; Title page; Copyright; Preface; Acknowledgements; List of Contributors; 1 Genetic Counseling: Preconception, Prenatal, and Perinatal; Incidence, prevalence and burden of genetic disorders and congenital malformations; The goal and purpose of prenatal diagnosis; Prerequisites for genetic counseling; Guiding principles for genetic counseling; Preconception genetic counseling; Genetic disorders that threaten maternal health; Maternal genetic disorders that may threaten fetal health and survival; Genetic disorders that pregnancy may aggravate; A history of infertility"]
[{"$nulls":4},"Parental carrier of a genetic disorder A 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"]
[{"$nulls":4},"Amniotic fluid cell culture Prenatal diagnosis of neural tube defects "]
[{"$nulls":4},"(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"]
[{"$nulls":4},"Interpretation issues: maternal cell contamination Factors affecting diagnostic success rate and accuracy; Technical standards for prenatal cytogenetics laboratories; Conclusion; Acknowledgments; References; 5 Prenatal Diagnosis of Sex Chromosome Abnormalities; Incidence; Patterns of inheritance; Prenatal diagnosis; Turner syndrome; Klinefelter syndrome; Triple X and poly-X syndromes; 47,XYY males; Structural abnormalities of the X chromosome; Structural abnormalities of the Y chromosome; Disorders of sex development; Ovotesticular disorders of sex development; Conclusion; References"]
[{"$nulls":4},"6 Molecular Cytogenetics and Prenatal Diagnosis Microdeletions; 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"]
[{"$nulls":4},"Clinical phenotype in the premutation"]