Detection of contamination in noninvasive prenatal fetal gender test
نویسندگان
چکیده
The risk of false positive results in noninvasive prenatal diagnosis focused on fetal gender and RhD status determination could be a problem in clinical routine. This is because these tests are based on detection of presence of DNA sequences with high population frequency and so there is the risk of sample contamination during sample collection and processing. In our study the different fragmentation of fetal and maternal DNA molecules present in maternal circulation was utilized in identification of contaminated samples. Amplification of Ychromosome specific assays different in size was tested on circulating DNA samples. Of the four tested assays two shorter (84 and 177 bp) showed expected qPCR efficiency and have comparable amplification profiles. The difference in Ct values between these two assays was found to be statistically significant in comparison of fetal male and normal male samples (p<0.0001) as well as in blinded pilot study performed on 10 artificially contaminated and 10 non-contaminated samples (F=34.4, p<0.0001) that were all identified correctly. Our results showed that differently sized assays performed well in detection of external contamination of samples in noninvasive prenatal fetal gender test and could be of help in clinical laboratories to minimize the risk of false positive results.
منابع مشابه
An Effective Method for Detecting Y-chromosome Specific Sequences of Circulating Fetal DNA in Maternal Plasma During the First-trimester
Background and Aims: New advances in the use of cell-free fetal DNA (cffDNA) in maternal plasma of pregnant women has provided the possibility of applying cffDNA in prenatal diagnosis as a non-invasive method. One of the applications of prenatal diagnosis is fetal gender determination. Early prenatal determination of fetal sex is required for pregnant women at risk of X-linked and some endocrin...
متن کاملDetection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus.
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...
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 کاملPrenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene
Objective(s):To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Resul...
متن کاملComments on Editorial: Has Noninvasive Prenatal Testing (NIPT) Come of Age?
Recent advances in genomic sequencing and bioinformatics have led to the development of noninvasive detection methods with detection rates approaching those obtained with amniocentesis and chorionic villus sampling (CVS) [1, 2]. Recently, a novel prenatal testing method has become available. This method, known as noninvasive prenatal testing (NIPT), is a molecular approach for assessing fetal a...
متن کامل