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  • Book
    Hideaki Masuzaki, editor.
    Summary: This book explores the recent clinical and research findings in the field of prenatal screening and diagnosis. It presents new devices and tests such as real-time 3D ultrasound, ultrafast fetal MRI, and next-generation sequencing and discusses genetic counseling and fetal therapy. Written by pioneering scientists, the book is divided into six themed parts: ultrasound examination, genetic tests, genetic disorders, chromosomal diseases, genetic counseling, and techniques, presenting carefully prepared original data.This thought-provoking, instructive and informative book is intended for geneticists, obstetricians, pediatricians, genetic counselors and nurses. Although the incidence of congenital abnormalities such as structural, chromosomal and genetic disorders is very low, it is important to have accurate information on their incidence and likely outcome, and on the screening and diagnosis of congenital abnormalities during pregnancy care. This book provides valuable insights into prenatal screening, genetic counseling and fetal diagnosis.

    Part I Ultrasound examination
    1.Ultrasonic Screening
    2.Abnormal findings in Ultrasound examination
    Part II_ Genetic tests
    3.Screening tests
    4.Diagnostic test
    Part III_Genetic Disorders
    5.Mendelian Diseases
    6.Abnormalities in fetal brain(congenital hydrocephalus etc)
    7.Muscular Dystrophy
    8.Skeletal dysplasia
    9.Genito-urinary tract abnormality
    10.Genomic imprinting disorders ( including mesenchymal placental dysplasia)
    11.Genetics in Multiple gestation
    12.Fetal Therapy
    Part IV_Chromosoma disease
    13.Autosomal disease
    14.Sex chromosome-linked diseases
    Part V_Genetic counseling
    15.fetal anomaly and genetic counseling
    16.Soft marker test (NT, Nasal bone etc) and genetic counseling
    17.NIPT and genetic counseling
    18.Trisomy and genetic counseling
    19.Sex chromosomel abnormality and genetic counseling
    20.Chromosome structural abnormalities and genetic counseling
    21.Chromosome Mosaic and Genetic Counseling
    22.Gene disorders and genetic counseling
    Part VI_Technical
    23. G-banding
    24. FISH
    25. PCR
    26. Microarray and Next generation sequencing
    27. How to get the licenses for prenatal diagnosis.
    Digital Access Springer 2021