Noninvasive genotyping of 9 Y-chromosome specific STR loci using circulatory fetal DNA in maternal plasma by multiplex PCR

2006 ◽  
Vol 26 (4) ◽  
pp. 362-368 ◽  
Author(s):  
ZhiHui Deng ◽  
GuoGuang Wu ◽  
Qian Li ◽  
Xuan Zhang ◽  
YanLian Liang ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Y Chromosome ◽  
Maternal Plasma ◽  
Str Loci ◽  
Fetal Dna

Application of real-time PCR of sex-independent insertion-deletion polymorphisms to determine fetal sex using cell-free fetal DNA from maternal plasma

2015 ◽  
Vol 53 (8) ◽  
Author(s):  
Sherry Sze Yee Ho ◽  
Angela Barrett ◽  
Henna Thadani ◽  
Cecille Laureano Asibal ◽  
Evelyn Siew-Chuan Koay ◽  
...  
Keyword(s):  
Real Time ◽  
Y Chromosome ◽  
Real Time Pcr ◽  
Genetic Material ◽  
Maternal Plasma ◽  
Fetal Sex ◽  
Female Fetus ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

AbstractPrenatal diagnosis of sex-linked disorders requires invasive procedures, carrying a risk of miscarriage of up to 1%. Cell-free fetal DNA (cffDNA) present in cell-free DNA (cfDNA) from maternal plasma offers a non-invasive source of fetal genetic material for analysis. Detection of Y-chromosome sequences in cfDNA indicates presence of a male fetus; in the absence of a Y-chromosome signal a female fetus is inferred. We aimed to validate the clinical utility of insertion-deletion polymorphisms (INDELs) to confirm presence of a female fetus using cffDNA.Quantitative real-time PCR (qPCR) for the Y-chromosome-specific sequence,Fetal sex was correctly determined in 77/82 (93.9%) cfDNA samples.We have validated a non-invasive prenatal test to confirm fetal sex as early as 6 gestational weeks using cffDNA from maternal plasma.

Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR

2012 ◽  
Vol 161 (1) ◽  
pp. 34-37 ◽  
Author(s):  
Aggeliki Kolialexi ◽  
Georgia Tounta ◽  
Paraskevi Apostolou ◽  
Christina Vrettou ◽  
Nikos Papantoniou ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Y Chromosome ◽  
Maternal Plasma ◽  
Non Invasive

An Effective Method for Detecting Y-chromosome Specific Sequences of Circulating Fetal DNA in Maternal Plasma During the First-trimester

2019 ◽  
Author(s):  
Najmeh Davoodian ◽  
Ali Kadivar ◽  
Heidar Heidari Khoie ◽  
Sima Hematian Khayat ◽  
Mahboobeh Heidari Nasirabadi
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Real Time ◽  
Y Chromosome ◽  
Maternal Plasma ◽  
Fetal Sex ◽  
Non Invasive ◽  
Fetal Dna ◽  
Fetal Gender ◽  
Cell Free Fetal Dna

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 endocrine diseases. The present study was carried out to perform an efficient polymerase chain reaction (PCR) method in order to improve sensitivity, specificity and accuracy of non-invasive fetal gender detection using fetal DNA in maternal plasma during 8th -12th weeks of pregnancy. Materials and Methods: Thirty-five pregnant women with 8 to 12 weeks of pregnancy were selected for prenatal fetal sex determination. Maternal peripheral blood was collected and cffDNA was extracted from 3-ml of maternal plasma. Two multi copy Y-chromosome-specific region (DYS and DAZ) and a single copy gene (SRY) were amplified by real-time quantitative PCR. Amplification was labeled as positive, negative, or inconclusive according to a stringent algorithm. Results: Using this method, the sensitivity and specificity of the real-time PCR assay was 100% and 93.8% for prenatal fetal sex detection, respectively. Conclusions: It is concluded that fetal sex can be determined with a high level of accuracy by our algorithm, after 8 weeks of gestation with cffDNA analysis.

scholarly journals Further Improvement in Quantifying Male Fetal DNA in Maternal Plasma

2012 ◽  
Vol 58 (2) ◽  
pp. 465-468 ◽  
Author(s):  
Shengnan Jin ◽  
Xueqin Michelle Lin ◽  
Haiyang Law ◽  
Kenneth Y C Kwek ◽  
George S H Yeo ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sensitivity And Specificity ◽  
Background Noise ◽  
Maternal Plasma ◽  
Substantial Improvement ◽  
Quantitative Detection ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Total Dna ◽  
Higher Sensitivity

Abstract BACKGROUND Cell-free fetal DNA (cffDNA) in maternal plasma can be clinically useful for detecting prenatal disorders and pregnancy monitoring. More sensitive, specific, and quantitative detection of cffDNA in maternal plasma may expand the clinical utility of such measurements. METHODS We developed a quantitative real-time PCR (qPCR) assay [Y chromosome repetitive sequence (YRS) assay] based on a highly repetitive short sequence specific for the Y chromosome. Both standard qPCR and digital qPCR were performed to compare the sensitivity and specificity of this new assay against already established male DNA–specific assays. RESULTS The YRS assay was at least 10-fold more sensitive than the currently most sensitive DYS14 assay. The YRS assay was able to detect 0.5 genome equivalents (GE) per PCR reaction when fetal DNA was present at 0.2% of the total DNA. The background noise for the YRS assay was much lower than for the DYS14 assay in analyses of plasma samples from pregnancies with female fetuses. CONCLUSIONS The YRS assay is a substantial improvement for quantifying rare male fetal DNA in maternal plasma. The higher sensitivity and specificity may expand the clinical and research utility of cffDNA.

scholarly journals Early and Accurate Sex Determination by qPCR of Y Chromosome Repetitive Sequence (YRS) In Cell-Free Fetal DNA from Maternal Plasma

2018 ◽  
Vol 3 (3) ◽  
pp. 346-356 ◽  
Author(s):  
Ditte Jacobsen ◽  
Grethe Risum Krog ◽  
Frederik Banch Clausen
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Repetitive Sequence ◽  
Quantitative Polymerase Chain Reaction ◽  
First Trimester ◽  
Maternal Plasma ◽  
Fetal Sex ◽  
Blood Samples ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Abstract Background Circulating cell-free fetal DNA (cffDNA) provides the opportunity for noninvasive prenatal diagnosis. Early knowledge of the fetal sex is essential in cases with a risk of a sex-linked genetic disease. A reliable and highly sensitive sex determination test is required for first trimester testing because of the low amounts of cffDNA. Methods First trimester blood samples from 326 pregnant women were analyzed by real-time quantitative polymerase chain reaction (qPCR) for the presence of Y chromosome repetitive sequence (YRS). Blood samples were collected from gestational weeks 4–12. Fetal sex was predicted on the basis of results from the YRS assay of cffDNA extracted from maternal plasma. The predicted sex was compared with the phenotypic sex of the newborn baby (n = 294). Results There was high concordance between the test results from the YRS assay and the actual sex at birth. There were no false-positive results, indicating agreement between male YRS results and male sex at birth. Two results were false negative (from gestational weeks 4 and 6) predicting female fetuses, when the actual sex at birth was male. Overall, the sensitivity of the YRS assay was 98.6% (95% CI, 95.1%–99.8%), specificity was 100% (95% CI, 97.5%–100%), and accuracy was 99.3% (95% CI, 97.5%–99.9%). From 7 weeks of gestation, sensitivity, specificity, and accuracy were 100%. Conclusions This study shows that qPCR can be used to detect and quantify repetitive DNA sequences from 0.3 genome equivalents per milliliter of plasma. Prenatal sex determination by qPCR of YRS in cffDNA from maternal plasma was reliable and robust with cffDNA extracted from 1 mL of nonhemolyzed plasma, with a plasma equivalent per PCR of 167 μL. The YRS assay can be used for early noninvasive prenatal sex determination from a gestational age of 7 weeks.

Multiplex PCR design strategy used for the simultaneous amplification of 10 Y chromosome short tandem repeat (STR) loci

2003 ◽  
Vol 375 (3) ◽  
pp. 333-343 ◽  
Author(s):  
Richard Schoske ◽  
Pete M. Vallone ◽  
Christian M. Ruitberg ◽  
John M. Butler
Keyword(s):  
Multiplex Pcr ◽  
Y Chromosome ◽  
Tandem Repeat ◽  
Short Tandem Repeat ◽  
Design Strategy ◽  
Str Loci ◽  
Short Tandem

Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma

2007 ◽  
Vol 27 (10) ◽  
pp. 932-937 ◽  
Author(s):  
Elles M. J. Boon ◽  
Hélène B. Schlecht ◽  
Peter Martin ◽  
Geoff Daniels ◽  
Rolf H. A. M. Vossen ◽  
...  
Keyword(s):  
Real Time ◽  
Y Chromosome ◽  
Real Time Pcr ◽  
Maternal Plasma ◽  
Fetal Dna
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