نتایج جستجو برای: noninvasive prenatal screening nips
تعداد نتایج: 293051 فیلتر نتایج به سال:
background: the aim of this perspective study was to assess the frequency of hemoglobinopathy mutational genes among voluntary hemoglobinopathy carrier couples-to-be referred to thalassemia center, shafa hospital, affiliated to ahvaz jondidishapur university of medical sciences (ajuoms), during their first trimester of pregnancy for genetic screening and counseling for prenatal diagnosis (pnd)....
Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency advanced maternal age (AMA) not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three AMA with singleton pregnancy who received and followed-...
background: the discovery of circulating fetal dna in maternal blood led to the discovery of new strategies to perform noninvasive testing for prenatal diagnosis. objective: the purpose of the study was to detect fetal aneuploidy at chromosomes 13, 18, 21, x, and y by analysis of fetal cell-free dna from maternal blood, without endangering pregnancy. materials and methods: this retrospective st...
OBJECTIVE The study aimed to validate the efficacy of detection of fetal cell-free DNA in maternal plasma of trisomy 21, 18 and 13 in a clinical setting. METHODS A total of 2340 women at high risk for Down syndrome based on maternal age, prenatal history or a positive sesum or sonographic screening test were offered prenatal noninvasive aneuploidy test. According to the prenatal noninvasive a...
present as an abnormal maternal screening test result or abnormal ultrasonography finding, this condition is not typically associated with structural abnormalities or abnormal maternal serum screening profiles. Therefore, prenatal diagnosis of Turner syndrome is complicated, and most cases are diagnosed incidentally or postnatally. In 1997, Lo et al. [3] demonstrated that fetal cell-free DNA (c...
Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts. However, the overall low incidence of aneuploidy limits the positive predictive value of these tests. Currently, the causes of false positive results are poorly understood. We investigated four pregna...
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation. GC sequencing bias correction and statistical smoothing were performed to enhance discrimination of affected and unaffected pregnancies. Maternal plasma samples from pregnancies wit...
background: free fetal dna (ffd) in maternal plasma/serum has increasingly become the source of fetal material for diagnostic purposes in recent years. this source of fetal material can be used for sex determination. rh typing paternally inherited sequences and compound heterozygosity. reports on the lack of consistent pcr amplification of y-chromosome sequences of ffd in maternal plasma/serum ...
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...
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