Screening of fetal chromosomal aneuploidy diseases using noninvasive prenatal testing in twin pregnancies

Yu, Wenqian; Yuan, Liang; Yin, Shaowei; Líu, Hao; Lü, Xue; Liang, Bo; Kong, Lingyin; Liu, Caixia

doi:10.1080/14737159.2019.1562906

Cited by 20 publications

(21 citation statements)

References 41 publications

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“…In our study 1 of 2 affected cases were detected by cfDNA testing at FPR of 0.4% (4/995). In the second study 23 the one affected case was detected at FPR of 0% (0/1156). In the third study 21 there were no cases of trisomy 13 but one false positive result.…”

Section: Trisomy 13mentioning

confidence: 90%

“…The search identified 329 potentially relevant citations, but 322 were excluded because they were non-relevant publications, conference abstracts rather than peer-reviewed papers, review articles or opinions, studies not on twins, case-control studies, or studies on clinical implementation of cfDNA testing in screening for aneuploidies in which pregnancy outcome data were provided for fewer than 85% of the study population, proof-of-principle studies reporting laboratory techniques rather than clinical validation of a predefined method of maternal blood cfDNA analysis (Figure 1). In total, 9 relevant studies were identified 4,5,[17][18][19][20][21][22][23] but two of these 4,5 were excluded from the meta-analysis because their data are included in the updated Fetal Medicine Foundation results presented above. The characteristics of our current study and the seven ones identified by the literature search are summarized in Table 1.…”

Section: Data Sourcesmentioning

confidence: 99%

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Screening for Trisomies by cfDNA Testing of Maternal Blood in Twin Pregnancy: Update of the Fetal Medicine Foundation Results and Meta-analysis

Gil

Galeva

Jani

et al. 2019

Obstetrical &Amp; Gynecological Survey

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Objective: To report on the routine clinical implementation of cell-free (cf)DNA analysis of maternal blood for trisomies 21, 18 and 13 in twin pregnancies and to define the performance of the test by combining our results with those arising from systematic review of the literature. Methods:The data for the study were derived from prospective screening for trisomies 21, 18 and 13 in twin pregnancies at 10 +0 -14 +1 weeks' gestation. Two populations were included; first self-referred women to the Fetal Medicine Centre in London or Brugmann University Hospital in Brussels and second, women selected for the cfDNA test after routine first-trimester combined testing in one of two National Health Service hospitals in England. This dataset was used to determine the performance of screening for the three trisomies. Search of Medline, Embase, CENTRAL (The Cochrane Library), ClinicalTrials.gov and ICTRP (World Health Organization) was carried out to identify all peer-reviewed publications on clinical validation or implementation of maternal cfDNA testing for trisomies 21, 18 and 13 in twin pregnancies. Meta-analysis was then performed using our data and data from the studies identified by the literature search.Results: In our dataset of 997 twin pregnancies with a cfDNA result and known outcome, the test classified correctly 16 (94.1%) of the 17 cases of trisomy 21, 9 (90.0%) of 10 of trisomy 18, 1 (50.0%) of 2 of trisomy 13 and 963 (99.5%) of 968 cases without any of the three trisomies. The literature search identified 7 relevant studies, excluding our papers because their data are included in the current study. In the combined total of our study and the 7 studies identified by the literature search there were 56 trisomy 21 and 3,718 non-trisomy 21 twin pregnancies; the pooled weighted detection rate (DR) and false positive rate (FPR) were 98.2% (95% CI 83.2, 99.8%) and 0.05% (95% CI 0.01, 0.26%), respectively. In the combined total of 18 cases of trisomy 18 and 3,143 non-trisomy 18 pregnancies the pooled weighted DR and FPR were 88.9% (95% CI 64.8, 97.2%) and 0.03% (95% CI 0.00, 0.33%), respectively. For trisomy 13, there were only 3 affected cases and 2 (66.7%) of these were detected by the cfDNA test at FPR of 0.19% (5/2,569).Conclusions: Performance of cfDNA testing for trisomies 21 in twin pregnancies is similar to that reported for singleton pregnancies. The number of cases of trisomies 18 and 13 is too small for accurate assessment of predictive performance of the cfDNA test.

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Section: Trisomy 13mentioning

confidence: 90%

Section: Data Sourcesmentioning

confidence: 99%

Screening for Trisomies by cfDNA Testing of Maternal Blood in Twin Pregnancy: Update of the Fetal Medicine Foundation Results and Meta-analysis

Gil

Galeva

Jani

et al. 2019

Obstetrical &Amp; Gynecological Survey

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“…More people are becoming aware that there are fetal chromosomal abnormalities other than trisomy 21, trisomy 18, and trisomy 13 [5,6] that lead to neonatal birth defects, and the prevalence rate of these other chromosomal abnormalities is rising [7]. Compared to traditional serological screening, noninvasive prenatal testing (NIPT) has been welcomed by pregnant women and clinicians for fetal chromosomal aneuploidy screening due to its high detection rate, low false positive rate, and noninvasiveness [8,9]. However, a large portion of the literature has focused on the study of common chromosomal aneuploidy and has rarely reported on other chromosomal abnormalities [10].…”

Section: Introductionmentioning

confidence: 99%

Application value of NIPT for uncommon fetal chromosomal abnormalities

Yin

Tang

et al. 2020

Mol Cytogenet

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Objective: To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities. Methods: The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies. Results: Among the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal deletion (12 cases confirmed by amniocentesis), 16 cases of chromosomal duplication (9 cases confirmed by amniocentesis), and 17 cases of sex chromosome abnormalities (11 cases confirmed by amniocentesis). Of these cases, 32 were finally confirmed by amniotic fluid cell karyotype analysis. The coincidence rate was 66.7% (32/48). There were no abnormalities found for the remaining low risk pregnant women during follow-up. Conclusion: NIPT has good application value in predicting fetal chromosomal deletion, duplication, and sex chromosome abnormalities. It can improve the detection rate of fetal chromosomal abnormalities, but further prenatal diagnosis is needed.

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“…Thus 32 studies remained to be assessed for eligibility by reading of the full text. Eventually, 21 relevant studies met all the inclusion criteria and were included in this meta‐analysis 9,19‐38 . A flow chart summarizing the selected eligible studies in systematic review is shown in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

“…All included studies were considered to be at low risk of bias because they all used karyotyping or clinical examination or follow up as the reference standard. In terms of flow and timing, four studies together with our study were assessed as unclear risk as they had a small population lost to follow up and adverse pregnant outcomes or the NIPT test failed to provide results in some cases 21,32,36,37 . Eight studies were rated as high‐risk because the population of lost to follow up and adverse pregnant outcomes was large 25‐28,30,33,35,38 .…”

Section: Resultsmentioning

confidence: 99%

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

Wang

et al. 2020

Acta Obstet Gynecol Scand

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Introduction:The objective of this study was to report on the clinical performance of non-invasive prenatal testing (NIPT) for trisomies 21, 18 and 13 in twin pregnancies and to define the performance of NIPT by combining our cohort study results with published studies in a systematic meta-analysis. Material and methods:A cohort study was carried out in the First Affiliated Hospital of Sun Yat-sen University and Kanghua Hospital. Meanwhile, searches of PubMed, EMBASE, The Cochrane Library and Web of Science for all relevant peer-reviewed articles were performed with a restriction to English language publication before 15 June 2019. Quality assessments were conducted with the Quality Assessment Tool for Diagnostic Accuracy Studies-2 checklist. Data analysis, heterogeneity, subgroup analysis and publication bias were carried out using META-DISC 1.4 and STATA 12.0.Results: In all, 141 twin pregnancies included in our cohort study; confirmation revealed one true-positive case for trisomy 21 and 140 true-negative cases. The sensitivity and specificity for trisomy 21 by NIPT were both 100%. Twenty-two eligible studies were enrolled in this meta-analysis together with our study. There were 199 cases of trisomy 21, 58 cases of trisomy 18, 14 cases of trisomy 13 and 6347 cases of euploids in total. For trisomy 21, NIPT showed the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnostic odds ratio were 0.99, 1.00, 145.81, 0.06 and 1714.09, respectively. For trisomy 18, the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnostic odds ratio were 0.88, 1.00, 200.98, 0.19 and 483.68, respectively. Conclusions:The performance of NIPT for trisomy 21 in twin pregnancy was excellent and it was similar to that reported in singleton pregnancy. However, due to publication bias (trisomy 18) and small number of cases (trisomy 13), accurate assessment of the predictive performance of NIPT for trisomies 18 and 13 could not be achieved.Our study was approved by the institutional review board of the First Affiliated Hospital, Sun Yat-sen University (no. 2016-03). | Systematic review and meta-analysis | Literature search and study selectionSearches of PubMed, EMBASE, The Cochrane Library and Web of Science for all relevant peer-reviewed articles were performed with K E Y W O R D S non-invasive prenatal testing, trisomy 13, trisomy 18, trisomy 21, twin pregnancies Key messageNon-invasive prenatal testing performs well in twin pregnancies with trisomy 21 and can be popularized for routine prenatal screening in twin pregnancies.

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Screening of fetal chromosomal aneuploidy diseases using noninvasive prenatal testing in twin pregnancies

Cited by 20 publications

References 41 publications

Screening for Trisomies by cfDNA Testing of Maternal Blood in Twin Pregnancy: Update of the Fetal Medicine Foundation Results and Meta-analysis

Screening for Trisomies by cfDNA Testing of Maternal Blood in Twin Pregnancy: Update of the Fetal Medicine Foundation Results and Meta-analysis

Application value of NIPT for uncommon fetal chromosomal abnormalities

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

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