非侵襲的出生前遺伝子学的検査(新型出生前診断)における課題と問題点における考察

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  • Clinical and Societal Issues Surrounding New, Non-Invasive Prenatal Genetic Testing Methods
  • ヒシンシュウテキ シュッショウゼン イデンシガクテキ ケンサ(シンガタ シュッショウゼン シンダン)ニ オケル カダイ ト モンダイテン ニ オケル コウサツ

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The invasive procedures amniocentesis and chorionic villus sampling are routinelyapplied in pregnancies at risk for fetal genetic disorders and the results obtained are the goldstandard for prenatal diagnosis. In recently, the field of prenatal genetic testing has explodedwith new non-invasive genetic technologies. These recent technological advances in prenataldiagnosis : interrogation of the fetal genome in increasingly high resolution and the developmentof non-invasive methods of fetal testing using cell-free DNA in maternal plasma. In thispaper, it has examined the sequencing technologies that provide the framework for non-invasiveprenatal testing( NIPT) and review the major studies published. This review summarizesrecent developments in the field of non-invasive prenatal diagnosis through the use of cellfreefetal nucleic acids in maternal circulation during pregnancy and provides an overview of thepossibilities for future clinical applications. This review summarizes recent work in this fieldand discusses the integration of these new technologies into the clinic and society.

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