Lau Tze Kin, Chan Mei Ki, Lo Pui Shan Salome, Chan Hon Yee Connie, Chan Wai Sze Kim, Koo Tik Yee, Ng Hoi Yan Joyce, Pooh Ritsuko K
Fetal Medicine Centre, Paramount Clinic, Hong Kong.
J Matern Fetal Neonatal Med. 2012 Oct;25(10):1856-9. doi: 10.3109/14767058.2012.678442. Epub 2012 Apr 28.
To report the initial experience of noninvasive prenatal diagnosis of fetal Down syndrome (The NIFTY test) in a clinical setting.
The NIFTY test was offered as a screening test for fetal Down syndrome to pregnant women with a singleton pregnancy at 12 weeks of gestation or beyond. A satisfaction questionnaire was sent to the first 400 patients.
During a 6-month period, 567 NIFTY tests were performed. Over 90% of those studied were ethnic Chinese, and the mean age of the women studied was 36 years. The test was performed at 12-13 weeks of gestation in 49.21%. The median reporting time was 9 days. The test was positive for trisomy 21 in eight cases, and for trisomy 18 in 1 case; all were confirmed by fetal karyotyping. There was no false-positive result. Of the questionnaires, 182 completed responses were received. Over 95% had complete or almost complete resolution of anxiety. Except for one, all were satisfied with the NIFTY test, and all indicated that they would recommend the test to their friends.
The NIFTY test was a highly specific test. Unnecessary invasive tests and associated fetal losses could be avoided in almost all women who have a normal fetus.
报告在临床环境中进行胎儿唐氏综合征无创产前诊断（NIFTY检测）的初步经验。
向妊娠12周及以上的单胎妊娠孕妇提供NIFTY检测作为胎儿唐氏综合征的筛查试验。向首批400名患者发送了满意度调查问卷。
在6个月的时间里，共进行了567次NIFTY检测。超过90%的受检者为华裔，受检女性的平均年龄为36岁。49.21%的检测在妊娠12 - 13周时进行。中位报告时间为9天。21三体综合征检测呈阳性8例，18三体综合征检测呈阳性1例；所有结果均经胎儿核型分析证实。无假阳性结果。共收到182份问卷回复。超过95%的人焦虑完全或几乎完全缓解。除1人外，所有人对NIFTY检测都很满意，并且都表示会向朋友推荐该检测。
NIFTY检测是一项高度特异的检测。几乎所有胎儿正常的女性都可避免不必要的侵入性检测及相关的胎儿丢失。
