講演情報
[P16-6]Outcomes of non-invasive prenatal testing (NIPT) over an 8-year period at a single facility
○川端 伊久乃1,2, 佐原 知子1, 平岡 さゆり1, 米澤 美令2, 大和田 桃子2, 三宅 秀彦1,3, 鈴木 俊治2, 山田 岳史2 (1.日本医科大学 付属病院 遺伝診療科, 2.日本医科大学 産婦人科, 3.お茶の水女子大学 人間文化創生科学研究科 遺伝カウンセリングコース)
Background Non-invasive prenatal testing (NIPT) is a screening test for fetal chromosomal abnormalities, such as fetal aneuploidy, and has been offered at our hospital since 2013. We aimed to obstetrics outcomes among women underwent and renounced NIPT at our hospital for supplying more accurate information at genetic counseling. Methods This retrospective observational study included 819 pregnant women who requested NIPT at Nippon Medical School Hospital from November 2013 to October 2021. We examined data on NIPT results and clinical outcomes from medical records. Results of the 819 women, 764 (93.2%) underwent NIPT. There were 17 with positive results (2.2%), of whom 2 (11.8%), 4 (23.5%), and 11 (64.7%) tested positive for trisomy 13, 18, and 21, respectively. Of the 17 positive results, there were two false-positives (trisomy 13 and trisomy 18). Fifty-five women (6.7%) decided to not undergo NIPT, of whom 38 made the decision after genetic counseling and 17 before. Among the women who did not receive NIPT after genetic counseling, 13 selected amniocentesis for requesting information on general fetal chromosomal abnormalities, not only for trisomy 13, 18, and 21. Twenty-two women did not receive any prenatal genetic testing. Five neonates with negative NIPT results had congenital disease without chromosomal disease.Conclusions Providers for NIPT can give more detailed and individualized genetic counseling for each situation if the data of their facility is taken into account.