Table Of ContentComprehensive 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
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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
