Fetal Morph Functional Diagnosis PDF
Preview Fetal Morph Functional Diagnosis
Comprehensive Gynecology and Obstetrics Hideaki Masuzaki Editor Fetal Morph Functional Diagnosis Comprehensive Gynecology and Obstetrics Series Editors Ikuo Konishi National Kyoto Medical Center Kyoto Japan Hidetaka Katabuchi Department of Obstetrics and Gynecology Kumamoto University Kumamoto Japan This series presents the current and future perspectives of medical science in gynecology and obstetrics. The authors fully describe the current understanding of a disease including clinical features, imaging, pathology, and molecular biology, and also include the historical aspects and theories for exploring the etiology of the disease. Also, recent developments in diagnostic strategy, medical treatment, surgery, radiotherapy, prevention, and better health-care methods are clearly shown. Thus, each volume in the series focuses on the scientific basis for the pathogenesis of a disease and provides clinical applications that make it possible to offer personalized treatment for each patient. Over the past 20 years, physicians have been working to develop a standard treatment and publish clinical guidelines for a disease based on epidemiological evidence, mainly through the use of randomized clinical trials and meta-analyses. Recently, however, comprehensive genomic and genetic analyses have revealed the differences and variations in biological characteristics even among patients with the same diagnosis and have been focusing on personalized therapy. Now all physicians and patients are entering a new world of “precision medicine” through the use of genomic evidence. We are confident that readers will greatly benefit from the contents of the series with its purview of the exciting and promising future of gynecology and obstetrics. More information about this series at http://www.springer.com/series/13621 Hideaki Masuzaki Editor Fetal Morph Functional Diagnosis Editor Hideaki Masuzaki Nagasaki University Nagasaki Japan ISSN 2364-1932 ISSN 2364-219X (electronic) Comprehensive Gynecology and Obstetrics ISBN 978-981-15-8170-0 ISBN 978-981-15-8171-7 (eBook) https://doi.org/10.1007/978-981-15-8171-7 © Springer Nature Singapore Pte Ltd. 2021 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd. The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore Preface The development of fetology has been dependent on advances in the field of pre- natal diagnosis. There are numerous congenital abnormalities (structural, chro- mosomal, genetic, miscellaneous, etc.); the overall prevalence of disorders is approximately 2 per 100 of pregnancies. The early prenatal detection of congeni- tal abnormality allows both parents and medical carers to plan the management for the pregnancy. Accurate provision of information regarding the incidence, likely outcome, screening, and diagnosis of congenital abnormalities is an essen- tial part of pregnancy care. Without the ability to accurately evaluate the structure and the function of the fetus, it would not be possible to diagnose or treat the wide range of abnormalities that are now addressed by the special fetal medical care unit. This book shows new finding such as real-time 3D ultrasound, ultrafast fetal MRI, genetic counseling, fetal screening and diagnostic test, next-generation sequencing, and fetal therapy. Geneticists, obstetrician, pediatrician, genetic counselor, and nurses are interested in prenatal screening, genetic counseling, and prenatal diagnosis of the fetus. Numerous genetic syndromes exist, the majority of which are sporadic but some with established patterns of inheritance. The latter are relatively uncommon and are screened for only after the family has undergone genetic counseling regarding the disease, chance of recurrence, diagnostic tests, and possible therapeutic interventions. The distinction between screening and diagnosis of congenital abnormalities is often blurred in common usage. Screening tests (triple test, NT by ultrasound, NIPT, etc.) do not confer any risk to the preg- nancy. Diagnostic tests on the other hand are carried out on pregnancies that have been identified as “high risk” by a prior screening test. They are usually invasive and have a risk of miscarriage. A number of different tests (amniocentesis, chori- onic villus sampling, and cordocentesis) exist to detect sampling material of fetal origin. The sample obtained can be used for cytogenetic, biochemical, enzymatic, or DNA analysis to give a prenatal diagnosis. Generally, these tests are invasive and carry a risk of miscarriage. v vi Preface This book covers both basic and clinical research. This book is very original, and all the authors are top scientists for prenatal screening, genetic counseling, and diagnosis. This book will be a good teacher for understanding recent findings in prenatal diagnosis. Nagasaki, Japan Hideaki Masuzaki Contents Part I Ultrasound Examination 1 Ultrasonic Screening . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Toshiyuki Hata, Mohamed Ahmed Mostafa AboEllail, Nobuhiro Mori, Aya Koyanagi, and Takahito Miyake 2 Abnormal Findings in Ultrasound Examination . . . . . . . . . . . . . . . . . 23 Junichi Hasegawa 3 Fetal MRI . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37 Keiko Segawa Part II Genetic Tests 4 Prenatal Screening for Fetal Aneuploidy . . . . . . . . . . . . . . . . . . . . . . . 49 Akihiko Sekizawa and Ryu Matsuoka 5 Diagnostic Tests (Invasive Procedures) . . . . . . . . . . . . . . . . . . . . . . . . . 57 Toshiro Ikeda Part III G enetic Disorders 6 Mendelian Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 71 Yoshiki Kudo 7 Neuroimaging and Genetics in Brain Maldevelopment . . . . . . . . . . . 81 Ritsuko K. Pooh 8 Muscular Dystrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 103 Miwako Nagasaka and Mariko Taniguchi-Ikeda 9 Skeletal Dysplasia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 121 Jun Murotsuki vii viii Contents 10 Genitourinary Tract Abnormalities. . . . . . . . . . . . . . . . . . . . . . . . . . . . 137 Takashi Kaji 11 Genomic Imprinting Disorders (Including Mesenchymal Placental Dysplasia) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149 Hidenobu Soejima and Takashi Ohba 12 Genetics in Multiple Gestation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 169 Takeshi Murakoshi 13 Fetal Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 183 Masayuki Endo and Haruhiko Sago Part IV C hromosomal Diseases 14 General Remarks About Autosomal Diseases. . . . . . . . . . . . . . . . . . . . 191 Koh-ichiro Yoshiura 15 Sex Chromosome-Linked Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . 197 Haibo Li, Lulu Yan, Yuxin Zhang, Yingwen Liu, Min Xie, Ning Song, and Taosheng Li Part V G enetic Counseling 16 Fetal Anomaly and Genetic Counseling . . . . . . . . . . . . . . . . . . . . . . . . 219 Osamu Samura 17 Soft Marker Test (NT, Nasal Bone, Etc.) and Genetic Counseling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 231 Aiko Sasaki 18 Noninvasive Prenatal Testing and Genetic Counseling . . . . . . . . . . . . 239 Junko Yotsumoto 19 Trisomy and Genetic Counseling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 249 Nobuhiro Suzumori 20 Sex Chromosome Abnormalities and Genetic Counseling . . . . . . . . . 259 Hidehiko Miyake 21 Genetic Counseling: Chromosomal Structural Rearrangements . . . . 271 Haruka Hamanoue 22 Gene Disorders and Genetic Counseling . . . . . . . . . . . . . . . . . . . . . . . 297 Shoko Miura and Kiyonori Miura Contents ix Part VI Technical 23 G-Banding: Fetal Chromosome Analysis by Using Chromosome Banding Techniques . . . . . . . . . . . . . . . . . . . . . . . . . . . . 309 Naoki Harada 24 FISH . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 319 Kaoru Suzumori 25 Polymerase Chain Reaction (PCR) . . . . . . . . . . . . . . . . . . . . . . . . . . . . 331 Takahiro Yamada 26 Microarray and Next Generation Sequencing . . . . . . . . . . . . . . . . . . . 335 Hiroki Kurahashi and Takema Kato 27 How to Obtain Certifications and Licenses for Prenatal Diagnosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 345 Shigehito Yamada and Katsuhiko Naruse
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