臨床婦人科産科73巻2号

2019年03月発行

今月の臨床 NIPT新時代の幕開け―検査の実際と将来展望

NIPTの現状

NIPTで予期しない結果となる原因は何か？

著者： 澤井英明¹

所属機関： ¹兵庫医科大学病院遺伝子医療部

ページ範囲：P.222 - P.227

文献概要

●NIPTでは陽性・陰性以外に結果の報告ができない「判定保留」がある．日本人では判定保留は初回採血の約0.3％に起こり，2度目の採血でも判定保留となったものは約0.1％ある．

●NIPTでは陰性と報告されていても当該染色体異常の罹患児が出生する「偽陰性」が，日本人では約0.01％ある．

●NIPTでは陽性や判定保留となった場合に，目的とした染色体異常以外の染色体異常やがんなど，本来の検査目的ではない疾患が偶然に発見される「偶発的所見」がある．

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