Rapid detection of chromosome aneuploidies by prenatal interphase FISH (fluorescence in situ hybridization) and its clinical utility in Japan

OBJECTIVE: The purpose of this study was to assess the accuracy, informative rate, detection rate, and clinical utility of prenatal interphase fluorescence in situ hybridization (FISH) analysis of amniotic fluid samples from Japanese women. METHODS: Amniotic fluid specimens from 2,639 Japanese women were received for prenatal interphase FISH and chromosome analysis. A questionnaire was designed to evaluate FISH clinical utility by collaboration sites. RESULTS: Based on 2,319 tested samples, the accuracy (100%), informative (94%), and detection (87.6%) rates were all high. The accuracy (100%), informative (90.2%), and detection (90.0%) rates were also remarkable in third-trimester pregnancies. We perceive significant advantages from this test regarding medical management and patient satisfaction. CONCLUSIONS: This novel report shows that in Japan prenatal interphase FISH testing is highly informative and accurate, not only in second-trimester pregnancies but also in third-trimester pregnancies. This test provides advantages to both physicians and patients, provided that its capabilities and limitations are understood.