LEADER 05108nam 2200721 450 001 9910821681903321 005 20200520144314.0 010 $a1-118-98154-5 010 $a1-118-98155-3 010 $a1-118-98153-7 035 $a(CKB)3710000000476472 035 $a(EBL)4187360 035 $a(SSID)ssj0001552818 035 $a(PQKBManifestationID)16171377 035 $a(PQKBTitleCode)TC0001552818 035 $a(PQKBWorkID)14812657 035 $a(PQKB)11045253 035 $a(PQKBManifestationID)16175959 035 $a(PQKB)21391728 035 $a(DLC) 2015034221 035 $a(Au-PeEL)EBL4187360 035 $a(CaPaEBR)ebr11128386 035 $a(CaONFJC)MIL831289 035 $a(PPN)220105111 035 $a(MiAaPQ)EBC4187360 035 $a(OCoLC)935249066 035 $a(EXLCZ)993710000000476472 100 $a20160105h20162016 uy 0 101 0 $aeng 135 $aur||||||||||| 181 $ctxt 182 $cc 183 $acr 200 00$aGenetic disorders and the fetus $ediagnosis, prevention, and treatment /$fedited by Aubrey Milunsky MB BCh, DSc, FRCP, FACMG, DCH, Jeff M. Milunsky MD, FACMG 205 $aSeventh edition. 210 1$aHoboken, New Jersey :$cWiley Blackwell,$d2016. 210 4$dİ2016 215 $a1 online resource (2122 p.) 300 $aDescription based upon print version of record. 311 $a1-118-98152-9 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aDedication; 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 327 $aParental 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 327 $aAmniotic fluid cell culture Prenatal 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 327 $aInterpretation 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 327 $a6 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 327 $aClinical phenotype in the premutation 606 $aPrenatal diagnosis 606 $aFetus$xDiseases$xGenetic aspects 606 $aFetus$xAbnormalities$xGenetic aspects 615 0$aPrenatal diagnosis. 615 0$aFetus$xDiseases$xGenetic aspects. 615 0$aFetus$xAbnormalities$xGenetic aspects. 676 $a618.3/2075 702 $aMilunsky$b Aubrey 702 $aMilunsky$b Jeff M. 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910821681903321 996 $aGenetic disorders and the fetus$93916346 997 $aUNINA