{"product_id":"prenatal-diagnosis-9781405191432","title":"Prenatal Diagnosis","description":"\u003cb\u003eBook Synopsis\u003c\/b\u003e\u003cbr\u003e\u003cb\u003eHow can prenatal testing help your patients?\u003c\/b\u003e  \u003cp\u003eIn 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.\u003c\/p\u003e \u003cp\u003e\u003ci\u003ePrenatal Diagnosis: Clinical Cases and Challenges\u003c\/i\u003e\u003ci\u003e,\u003c\/i\u003e 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.\u003c\/p\u003e \u003cp\u003eCases used throughout emphasize three types of clinical problems:\u003c\/p\u003e \u003cul\u003e \u003cli\u003eChromosomal abnormalities\u003c\/li\u003e \u003cli\u003eMen\u003cbr\u003e\u003cbr\u003e\u003cb\u003eTrade Review\u003c\/b\u003e\u003cbr\u003e\"This is an informative book that appears to be geared more for genetic counselors.\" (Doody's, 21 October 2011)  \u003cp\u003e \"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)\u003c\/p\u003e\n\u003cbr\u003e\u003cbr\u003e\u003cb\u003eTable of Contents\u003c\/b\u003e\u003cbr\u003eIntroduction.  \u003cp\u003e\u003cb\u003eChapter 1 Cytogenetic Abnormalities.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eIntroduction to cytogenetic abnormalities.\u003c\/p\u003e \u003cp\u003eCommon aneuploidy – recurrence risks and counseling pitfalls.\u003c\/p\u003e \u003cp\u003eChromosomal mosaicism – prenatal diagnosis.\u003c\/p\u003e \u003cp\u003eChromosomal mosaicism – postnatal diagnosis.\u003c\/p\u003e \u003cp\u003eReciprocal translocations and structural abnormalities.\u003c\/p\u003e \u003cp\u003eRobertsonian translocations.\u003c\/p\u003e \u003cp\u003eSex discrepancies.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 2 Introduction to Mendelian Disorders.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 3 Autosomal Dominant Disorders.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eFeatures of autosomal dominant inheritance.\u003c\/p\u003e \u003cp\u003ePolycystic kidney disease.\u003c\/p\u003e \u003cp\u003eHereditary non-polyposis colon cancer.\u003c\/p\u003e \u003cp\u003eHuntington disease.\u003c\/p\u003e \u003cp\u003eMarfan syndrome.\u003c\/p\u003e \u003cp\u003eRetinoblastoma.\u003c\/p\u003e \u003cp\u003eTuberous sclerosis.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 4 Autosomal Recessive Disorders.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eFeatures of autosomal recessive inheritance.\u003c\/p\u003e \u003cp\u003eCongenital adrenal hyperplasia.\u003c\/p\u003e \u003cp\u003eCystic fibrosis.\u003c\/p\u003e \u003cp\u003eSpinal muscular atrophy.\u003c\/p\u003e \u003cp\u003eHemoglobinopathies.\u003c\/p\u003e \u003cp\u003eFanconi anemia.\u003c\/p\u003e \u003cp\u003eMaple syrup urine disease.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 5 X-linked Disorders.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eFeatures of X-linked inheritance.\u003c\/p\u003e \u003cp\u003eDuchenne muscular dystrophy.\u003c\/p\u003e \u003cp\u003eHunter syndrome.\u003c\/p\u003e \u003cp\u003eFragile X syndrome\u003c\/p\u003e \u003cp\u003eFactor VIII deficiency.\u003c\/p\u003e \u003cp\u003eX-linked adrenoleukodystrophy.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 6 Mitochondrial Inheritance.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eFeatures of mitochondrial inheritance.\u003c\/p\u003e \u003cp\u003eLeigh syndrome.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 7 Multifactorial Inheritance.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eFeatures of multifactorial inheritance.\u003c\/p\u003e \u003cp\u003eMultifactorial inheritance.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 8 Abnormal Ultrasound Findings.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eRecurrent hypotonia and polyhydramnios.\u003c\/p\u003e \u003cp\u003eHoloprosencephaly.\u003c\/p\u003e \u003cp\u003eAbnormalities of the digits.\u003c\/p\u003e \u003cp\u003eMulticystic kidneys.\u003c\/p\u003e \u003cp\u003eOmphalocele.\u003c\/p\u003e \u003cp\u003eRecurrent fetal hydrops.\u003c\/p\u003e \u003cp\u003eNonmotile ciliopathies.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 9 Skeletal Dysplasias.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eAchondroplasia and hypochondroplasia.\u003c\/p\u003e \u003cp\u003eOsteogenesis imperfecta type II.\u003c\/p\u003e \u003cp\u003eShort rib polydactyly syndromes.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 10 Imprinting Disorders.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 11 First and Second Trimester Screening Tests.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 12 Infertility.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 13 Family History.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 14 Consanguinity.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 15 Non-paternity.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 16 Fetal Infection.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 17 Teratogens.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 18 Autism.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 19 Glossary.\u003c\/b\u003e\u003c\/p\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e","brand":"John Wiley and Sons Ltd","offers":[{"title":"Default Title","offer_id":49407924044119,"sku":"9781405191432","price":42.7,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0817\/1739\/5799\/files\/9781405191432.jpg?v=1730500973","url":"https:\/\/bookcurl.com\/products\/prenatal-diagnosis-9781405191432","provider":"Book Curl","version":"1.0","type":"link"}