scholarly journals Clinical performance of non‐invasive prenatal testing for trisomies 21, 18 and 13 in twin pregnancies: A cohort study and a systematic meta‐analysis

2020 ◽  
Vol 99 (6) ◽  
pp. 731-743 ◽  
Author(s):  
Yuting He ◽  
Yichong Wang ◽  
Zhuyu Li ◽  
Haitian Chen ◽  
Jiankai Deng ◽  
...  
Keyword(s):  
Cohort Study ◽  
Clinical Performance ◽  
Meta Analysis ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Twin Pregnancies

The effectiveness of non-invasive prenatal testing in multiple pregnancy: a systematic review and a meta-analysis

2021 ◽  
Vol 7_2021 ◽  
pp. 10-18
Author(s):  
Bespalova O.N. Bespalova ◽  
Butenko M.G. Butenko ◽  
Pachulia O.V. Pachulia ◽  
Glotov A.S. Glotov ◽  
Kogan I.Yu. Kogan ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Multiple Pregnancy ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals High-throughput, non-invasive prenatal testing for fetal rhesus D status in RhD-negative women: a systematic review and meta-analysis

BMC Medicine ◽  
2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Huiqin Yang ◽  
Alexis Llewellyn ◽  
Ruth Walker ◽  
Melissa Harden ◽  
Pedro Saramago ◽  
...  
Keyword(s):  
Systematic Review ◽  
High Throughput ◽  
Meta Analysis ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study

2020 ◽  
Vol 102 ◽  
Author(s):  
Alvaro Mesoraca ◽  
Katia Margiotti ◽  
Claudio Dello Russo ◽  
Anthony Cesta ◽  
Antonella Cima ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Clinical Performance ◽  
False Negative ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Trisomy 13 ◽  
Sequencing Platform ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

Abstract Introduction Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chromosome aberrations among 7113 pregnancies in Italy. Methods This study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing platform obtained from Altamedica Medical Centre in Rome, Italy. Results In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomies 13, 18 and 21. Out of the 7113 samples analysed, 74 cases (1%) were positive by NIPT testing; foetal karyotyping and follow-up results validated 2 trisomy 13 cases, 5 trisomy 18 cases, 58 trisomy 21 cases and 10 sex chromosome aneuploidy cases. There were no false-negative results. Conclusion In our hands, NIPT had high sensitivity and specificity for common chromosomal aneuploidies such as trisomies 13, 18 and 21.

scholarly journals Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yuan Cheng ◽  
Xinran Lu ◽  
Junxiang Tang ◽  
Jingran Li ◽  
Yuxiu Sun ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Clinical Value ◽  
Non Invasive ◽  
Negative Results ◽  
Negative Case ◽  
Twin Pregnancies

Abstract Objective To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. Results Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. Conclusion Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies.

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