Noninvasive prenatal test (NIPT): Evolving screening strategy and first real world experience
نویسندگان
چکیده
منابع مشابه
Noninvasive prenatal testing (NIPT) for fetal trisomies in a routinely first-trimester screening
Results Results from chromosome selective sequencing were available from 253 cases of 255 cases. In two cases fetal cell fraction was below the minimal requirement of 4%. In this population of 255 cases we found euploid pregnancies in 250 cases and 5 aneuploid pregnancies: two trisomies 21, one trisomy 18, one triosmy 13 and one 45 XO. In 195 pregnant women, the performance of screening by comb...
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 کاملChanging to NIPT as a first-tier screening test and future perspectives: opinions of health professionals.
OBJECTIVE The aim of this study was to investigate health professionals' opinions toward offering noninvasive prenatal testing (NIPT) as first-tier screening test regardless of pregnant women's risk, and toward a potential broader range of disorders. METHODS A questionnaire completed by obstetric health professionals (n = 240) after an in-service NIPT training in the West and North of the Net...
متن کاملWhole genome sequencing based noninvasive prenatal test
NIFTY test by BGI detects trisomies 13, 18, and 21 as well as some sex chromosome aneuploidies and selected microdeletions [3]. Verinata Health, a subsidiary of Illumina offers the Verifi test for detection of trisomies 13, 18, 21, and the presence of monosomy X. The expanded version of this test also detects other aneuploidies and microdeletions [4]. Compared to other NIPT techniques such as t...
متن کامل[Non invasive prenatal test (NIPT) in maternal blood by parallel massive sequencing. Initial experience in Mexican women and literature review].
BACKGROUND Discovery of cell-free fetal DNA (cffDNA) in maternal blood in 1997 by Lo et al. has opened the possibility of a noninvasive prenatal test (NIPT). Currently, it is employed in the analysis of aneuploidies and fetal sex determination. Massive parallel sequencing (MPS) detects the origin of each amplified sequence, and analyses over-representation of sequences or any decrease in the fe...
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ژورنال
عنوان ژورنال: European Journal of Public Health
سال: 2017
ISSN: 1101-1262,1464-360X
DOI: 10.1093/eurpub/ckx187.242