Recognition of Neonatal Screening in Prefectures and Designated Cities: Introduction of Tandem Mass Spectrometer and Focusing on Expansion of Detected Diseases

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  • 都道府県及び指定都市の新生児マス・スクリーニングの認識——タンデムマス質量分析計の導入と検出疾患の拡大に着目して——
  • 都道府県及び指定都市の新生児マス・スクリーニングの認識 : タンデムマス質量分析計の導入と検出疾患の拡大に着目して
  • トドウフケン オヨビ シテイ トシ ノ シンセイジ マス ・ スクリーニング ノ ニンシキ : タンデムマス シツリョウ ブンセキケイ ノ ドウニュウ ト ケンシュツ シッカン ノ カクダイ ニ チャクモク シテ

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Abstract

<p>This paper assesses the change in neonatal screening methods in Japan, which were originally introduced in 1977. In April 2014, Japan implemented tandem mass spectrometer neonatal screening. This paper also examines the rise in the number of conventional diseases, mostly genetic disorders, detected from ages six to over 19, starting in 2014. The tandem mass spectrometer technique uses parents’ genetic information to clarify the nature of children’s diseases. I administered a questionnaire in prefectures and designated cities to determine the kinds of operations that the implementing entities are carrying out due to the increase in detections. My results indicate that the locations implementing the new technique did not correspond with those using personal information in neonatal screening as “genetic testing.”</p>

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