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.

Autorentext

Dr. Hideaki Masuzaki,
Director, Nagasaki University Library
Vice Chairman, Nagasaki Harbor Medical Center
Professor Emeritus, Nagasaki University,
Nagasaki, Japan

Inhalt

Part I Ultrasound examination.- 1.Ultrasonic Screenin.- 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.