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4章 出生前診断(母体血胎児染色体検査(NIPT

nipt .. 5 .. 2012 .. 2012 12 . 2013 2013 .. 60 . 46 22 44 2 .. 25 .. 1 . HP .. 38. 21 18 . 13 .. HP .. 21 . 13 18 .. (50 ). (90 ). (10%).. 80 .. 21 .. (50 ). 90 1 50 60 . 50 90 . nipt HP . 39.. nipt .. 40. 2014 .. combined test .. 78(3)146 2014 . 41.. 21 18 .. NT .. nipt 1% 99% .. [ ]. sensitivity .. 15 . 200 300 1 .. 2 3 .. 42.. NT ). ( nipt . /.. 11-13 15-18 10-22 11-15 15 . 21 21 21 .. 18 18 18 . 13 13 . 21 .. 80-85 80-85 .. 1 .. 21 . 15 . 21 80 .. 10 .. 2/3 .. 5 . FISH .. 10,000 20,000 . 210,000 100,000 200,000 . 20,000 30,000 .. nipt HP 2015 . 43. nipt .. 2013 .. Non-Invasive-Prenatal-Testing nipt maternal blood cell-free fetal nucleic acid (cffNA)test . nipt . nipt . nipt . 100 .. nipt .. DNA . DNA nipt . nipt . DNA DNA 10% . 1000 DNA DNA . 21 . 21 DNA DNA 21 .. ( ) . 44.. nipt HP 2015 .. 21 18 13.. 2/3 .. 21 . 13 18 . nipt .

40 表4-2 母体年齢と出生児の染色体疾患の発生率 妊婦の血液検査では胎児の染色体疾患の可能性が高い確率で予測できる。

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