scholarly journals Increasing maternal age is not a significant cause of false‐positive results for monosomy X in non‐invasive prenatal testing

2020 ◽  
Vol 40 (11) ◽  
pp. 1466-1473
Author(s):  
Rhiannon Sandow ◽  
Fergus P. Scott ◽  
Philip J. Schluter ◽  
Daniel L. Rolnik ◽  
Melody Menezes ◽  
...  
Keyword(s):  
False Positive ◽  
Maternal Age ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Monosomy X ◽  
Positive Results

Reducing false positive rate of fetal monosomy X in non‐invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X

2019 ◽  
Vol 39 (4) ◽  
pp. 324-327 ◽  
Author(s):  
Minh‐Duy Phan ◽  
Binh T. Vo ◽  
Thong V. Nguyen ◽  
Nhat‐Thang Tran ◽  
Huong N.T. Trinh ◽  
...  
Keyword(s):  
False Positive ◽  
False Positive Rate ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Monosomy X ◽  
Positive Rate ◽  
Combined Algorithm

scholarly journals Clinical performance of Non-invasive prenatal testing for sex chromosomal aneuploidies in Northeast China

2020 ◽  
Author(s):  
Lu Wang ◽  
Rulin Dai ◽  
Qingyang Shi ◽  
Yuting Jiang ◽  
Hongguo Zhang ◽  
...  
Keyword(s):  
False Positive ◽  
Northeast China ◽  
Sex Chromosome ◽  
Clinical Performance ◽  
False Positive Rate ◽  
False Negative ◽  
Prenatal Testing ◽  
Potential Method ◽  
Sequencing Platform ◽  
Non Invasive

Abstract Background: Along with the discovery of cell-free DNA (cfDNA) and the invention of next-generation sequencing (NGS), non-invasive prenatal testing (NIPT) had appeared and been applied for detecting common aneuploidies such as trisomy 21, 18, and 13, with low false-negative and false-positive rates. Recently, it had also been used for sex chromosome aneuploidies (SCAs). To assess the clinical utility of NIPT for SCAs in Northeast China, we collected NIPT data from BGI 500 sequencing platform in the Center for Reproductive Medicine, Center for Prenatal Diagnosis of the First Hospital of Jilin University, and calculate the positive predictive value (PPV) and false positive rate (FPR). Results: A cohort of 14936 samples were analyzed by NIPT, and revealed 70 cases with SCAs high-risk, among them, 40 women agreed to undergo amniocentesis, but as many as 30 ones refused further diagnose. Based on verified fetal karyotype, 30.0% (12/40) were confirmed to be a true positive. Unluckily, the PPV for monosomy X performed 0%. Besides, positive 47,XXX were 46.67% (7/15), 40.00% (2/5) were positive for 47, XYY, and 42.86% (3/7) were positive for 47, XXY.Conclusions: In conclusion, our present results confirmed that NIPT sequenced by BGI 500 demonstrated lowest PPVs for 45,X, but the more accurate prediction for other SCAs, it is still a potential method for SCAs screening. Henceforth, we should focus on how to improve the test utility and provide better services for pregnant women in need.

scholarly journals New screen on the block: non-invasive prenatal testing for fetal chromosomal abnormalities

2017 ◽  
Vol 9 (4) ◽  
pp. 248 ◽  
Author(s):  
Sara Filoche ◽  
Beverley Lawton ◽  
Angela Beard ◽  
Anthony Dowell ◽  
Peter Stone
Keyword(s):  
False Positive ◽  
Chromosomal Abnormalities ◽  
False Positive Rate ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
First Trimester ◽  
Maternal Blood ◽  
Non Invasive ◽  
Positive Rate ◽  
Trimester Screening

ABSTRACT Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value. The low false-positive rate (1–3%) is one of the most advertised advantages of NIPT. In practice, this could lead to a significant reduction in the number of false-positive tests and the need for invasive diagnostic procedures. NIPT is now suitable for singleton and twin pregnancies and can be performed from ~10 weeks in a pregnancy. NIPT is not currently publicly funded in most countries. However, the increasing availability of NIPT commercially will likely lead to an increase in demand for this as a screening option. Given the high numbers of women who visit a general practitioner (GP) in their first trimester, GPs are well-placed to also offer NIPT as a screening option. A GP’s role in facilitating access to this service will likely be crucial in ensuring equity in access to this technology, and it is important to ensure that they are well supported to do so.

128: Non-invasive prenatal testing versus invasive testing with array for the diagnosis of chromosome disorders in women of advanced maternal age

2014 ◽  
Vol 210 (1) ◽  
pp. S77-S78 ◽  
Author(s):  
Emily Griffin ◽  
Brian Shaffer ◽  
Nancy Nguyen ◽  
Mika Ohno ◽  
Susan Tran ◽  
...  
Keyword(s):  
Maternal Age ◽  
Prenatal Testing ◽  
Advanced Maternal Age ◽  
Non Invasive

scholarly journals Non-invasive Prenatal Testing for Assessing Fetal Sex Chromosome Aneuploidy: A Retrospective Study of 45773 Cases

2020 ◽  
Author(s):  
LU Xinran ◽  
WANG Chaohong ◽  
SUN Yuxiu ◽  
TANG Junxiang ◽  
TONG Keting ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Maternal Characteristics ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy ◽  
Prenatal Diagnostic

Abstract Objective: To assess the positive predictive value (PPV) of non-invasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decision in positive cases. Materials and Methods: We retrospectively analyzed 45773 singleton pregnancies with different characteristics that were subjected to NIPT in Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and pregnancy outcomes were collected.Results: A total of 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 resulted as true-positive. Overall, the PPV for 45,X, 47,XXX, 47,XXY and 47,XYY was 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when screening only pregnant women in advanced maternal age (AMA), the PPV for 45,X, 47,XXX, 47,XXY and 47,XYY was 23.81%, 53.33%, 78.95%, and 66.67%, respectively. AMA was a high-risk predictor of having a fetus with SCA. The frequencies of 47, XXX, and 47,XXY were significantly correlated with maternal age.Conclusion: NIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive fetus were more eager to terminate pregnancy compared to those with 47,XXX and 47, XYY. Our findings may assist in genetic counseling of AMA pregnant women. Our Pre- and post-test counseling are essential for familiarizing pregnant women with the benefits and limitations of the NIPT, which may ease their anxiety and provide them with the informed choice for further diagnosis and pregnancy decision.

scholarly journals THE CELL-FREE DNA DETECTION AND ANALYSIS AS THE NEW NON-INVASIVE PRENATAL DIAGNOSTICS OPTION

2017 ◽  
pp. 006
Author(s):  
Maja Milojković ◽  
Jelena Milenković
Keyword(s):  
Dna Detection ◽  
False Negative ◽  
Prenatal Testing ◽  
Screening Methods ◽  
Cell Free Dna ◽  
Testing Procedures ◽  
Non Invasive ◽  
Free Dna ◽  
First Choice ◽  
Positive Results

Screening procedures for chromosomal abnormalities in fetuses are a standard of care for pregnant women. Ultrasound and maternal serum analysis are traditional prenatal screening methods with detection rates between 75%-95%, and considerable false-negative and false-positive results. Also, both require follow up by invasive diagnostic tests in screen-positive cases, mostly amniocentesis and chorionic villi sampling, which are associated with notable risk of pregnancy loss. One of the innovative non-invasive prenatal testing (NIPT) options is the analysis of cell-free DNA (cfDNA) in plasma, which is detected in maternal circulation in a relatively high concentration. Commercial tests for cfDNA in maternal blood have recently become available. Cell-free DNA detection tests do not separate fetal from maternal DNA but use full cfDNA complement and analyze difference in total amount of sequenced DNA fragments, with the help of sophisticated data analysis software. It seems that cfDNA technology testing is highly accurate and has a very high sensitivity, so the difference compared to routine serum sample screening shows its significant superiority. However, cfDNA positive results still need confirmation by the invasive testing. The cell-free DNA analysis aims to become the first choice NIPT option due to its safety and high accuracy rate. The final goal is to develop the reliable method that could eventually replace invasive prenatal testing procedures.

scholarly journals Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

2020 ◽  
Author(s):  
Xinran Lu ◽  
Chaohong Wang ◽  
Yuxiu Sun ◽  
Junxiang Tang ◽  
Keting Tong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy

Abstract Objective: To investigate the positive predictive value (PPV) and clinical features of non-invasive prenatal testing (NIPT) as a screening method in detecting sex chromosome aneuploidy (SCA) within a high-risk population at the Maternity and Child Health Hospital of Anhui Province.Methods: From June 2015 to June 2019, 45773 women with singleton pregnancies volunteered to take an NIPT. Cell-free fetal DNA was extracted for high-throughput sequencing and amniocentesis karyotype analysis was performed in pregnant women. Results: 314 high-risk pregnant women underwent NIPT and 143 chose invasive prenatal diagnosis. Karyotype analysis was performed in amniotic fluid cells, wherein 7 cases of 45,X (PPV: 12.50%), 16 cases of 47,XXX (PPV: 55.17%), 25 cases of 47,XXY (PPV: 71.43%), and 10 cases of 47,XYY(PPV: 76.92%) were confirmed. The PPV of NIPT for SCA was 40.56%. The rate of SCA detected in women aged 40 years and older was 0.39%, which was significantly different from that detected in women aged <30, 30–34, and 35–39 years (P < 0.05). The detection rates of 47,XXX and 47,XXY were significantly correlated with maternal age (P < 0.05), but those of 45,X and 47,XYY showed no significant correlation with maternal age.Conclusion: NIPT can be applied for the detection of SCA, but the detection accuracy is low. Genetic counseling and further prenatal diagnosis should be provided.

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