Author's response to reviews Title: Noninvasive Fetal Trisomy (NIFTY) Test An Advanced Noninvasive Prenatal Diagnosis Methodology for Fetal Autosomal and Heterosomal Aneuploidies Authors:
نویسندگان
چکیده
Fuman Jiang ([email protected]) Jinghui Ren ([email protected]) Fang Chen ([email protected]) Yuqiu Zhou ([email protected]) Jiansheng Xie ([email protected]) Shan Dan ([email protected]) Yue Su ([email protected]) Jianhong Xie ([email protected]) Baomin Yin ([email protected]) Wen Su ([email protected]) Huakun Zhang ([email protected]) Wei Wang ([email protected]) Xianghua Chai ([email protected]) Linhua Lin ([email protected]) Hui Guo ([email protected]) Qiyun Li ([email protected]) Peipei Li ([email protected]) Yuying Yuan ([email protected]) Xiaoyu Pan ([email protected]) Yihan Li ([email protected]) Lifu Liu ([email protected]) Huifei Chen ([email protected]) Zhaoling Xuan ([email protected]) Shengpei Chen ([email protected]) Chunlei Zhang ([email protected]) Hongyun Zhang ([email protected]) Zhongming Tian ([email protected]) Zhengyu Zhang ([email protected]) Hui Jiang ([email protected]) Lijian Zhao ([email protected]) Weimou Zheng ([email protected]) Songgang Li ([email protected]) Yingrui Li ([email protected]) Jun Wang ([email protected]) Jian Wang ([email protected]) Xiuqing Zhang ([email protected])
منابع مشابه
Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X.
Trisomy X is a sex chromosomal abnormality with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1000 female births. There is considerable variation in the phenotype, from asymptomatic and very mildly affected to significant physical and psychological f...
متن کاملFollow‐up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling
OBJECTIVES To determine the underlying biological basis for noninvasive prenatal testing (NIPT) results of multiple aneuploidies or autosomal monosomies. METHODS Retrospective analysis of 113,415 tests to determine the study cohort, consisting of 138 (0.12%) cases reported as a single autosomal monosomy (n = 65), single trisomy with a sex chromosome aneuploidy (n = 36), or with multiple aneup...
متن کاملClinical utility of noninvasive fetal trisomy (NIFTY) test – early experience
OBJECTIVE To report the initial experience of noninvasive prenatal diagnosis of fetal Down syndrome (The NIFTY test) in a clinical setting. METHODS 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. RESULTS During a 6-month per...
متن کاملMeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21
This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screeni...
متن کاملNoninvasive prenatal testing for whole fetal chromosomal aneuploidies: a multicenter prospective cohort trial in Taiwan.
OBJECTIVE To evaluate the performance of noninvasive prenatal testing for all fetal chromosomal aneuploidies in an extremely high-risk group undergoing first trimester combined Down syndrome screening. METHOD A multicenter cohort prospective study in Taiwan was performed between June and December 2012. Maternal plasma was collected and shotgun massive parallel sequencing was performed on each...
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تاریخ انتشار 2012