Cell-free Fetal DNA Analysis in Maternal Plasma as Screening Test for Trisomies 21, 18, and 13 in Twin Pregnancy

Conte, G.; Letourneau, Alexandra; Jani, Jacques; Kleinfinger, Pascale; Lohmann, Laurence; Costa, Jean Marc; Benachi, Alexandra

doi:10.1097/01.ogx.0000553098.06128.fd

Cited by 11 publications

(34 citation statements)

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“…The cfDNA test detected all cases of trisomy 21 and two of three with trisomy 18 in the population having this test, at a FPR of 0%. As in the case of the combined test, the number of affected cases is too small for accurate assessment of the performance of cfDNA screening, but the results are consistent with those of previous reports.…”

Section: Discussionsupporting

confidence: 89%

“…There are only seven prospective studies with complete follow‐up reporting on the performance of cfDNA testing in twin pregnancies. Two studies examined a routine population, three examined pregnancies at high‐risk of aneuploidy, and two were in a mixed population of high‐ and low‐risk pregnancies. In the combined total of 31 cases of trisomy 21 and 2008 non‐trisomic pregnancies, the detection rate was 100% and FPR was 0.05%.…”

Section: Discussionmentioning

confidence: 99%

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Routine first‐trimester screening for fetal trisomies in twin pregnancy: cell‐free DNA test contingent on results from combined test

Galeva

Konstantinidou

Gil

et al. 2018

Ultrasound in Obstet & Gyne

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Objective To report on the routine clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13, contingent on the results of the first-trimester combined test in twin pregnancy.Methods Screening for trisomies 21,18 and 13 was carried out in 959 twin pregnancies by assessment of a combination of maternal age, fetal nuchal translucency thickness, and serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A at 11-13 weeks' gestation in two UK NHS hospitals. Women in the high-risk group (risk ≥ 1 in 100) were offered the option of invasive testing, cfDNA testing or no further testing, and those in the intermediate-risk group (risk 1 in 101 to 1 in 2500 in the first phase of the study and 1 in 101 to 1 in 500 in the second phase) were offered cfDNA or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or examination of the neonates. ResultsIn 42 (4.4%) of the 959 pregnancies, there was termination, miscarriage or stillbirth with no known karyotype or there was loss to follow-up. The 917 pregnancies with known trisomic status of both twins included six that were discordant for trisomy 21, four that were discordant for trisomy 18 and 907 with no trisomy 21, 18 or 13. Following combined screening, 47 (5.1%), 203 (22.1%) and 667 (72.7%) of the pregnancies were classified as high risk, intermediate risk and low risk, respectively. The high-risk group included five (83.3%) cases of trisomy 21 and three (75.0%) of trisomy 18. The cfDNA test was carried out in 224 pregnancies and results were provided in 214 (95.5%); this group included six pregnancies with trisomy 21, three with trisomy 18 and 206 with no trisomy 21, 18 or 13. The cfDNA test classified correctly as screen positive all six cases of trisomy 21 and two of the three with trisomy 18, and as screen negative for each of the trisomies all 206 unaffected pregnancies. Contingent screening led to prenatal detection of all cases of trisomy 21 and three of four with trisomy 18.Conclusion This study has demonstrated the feasibility of introducing cfDNA testing, contingent on the results of the first-trimester combined test for major trisomies, in a routine population of twin pregnancies.Cribado rutinario en el primer trimestre para trisomías fetales en el embarazo de gemelos: prueba de ADN fetal en función de los resultados de una prueba combinada RESUMEN Objetivo Informar sobre la aplicación clínica rutinaria del análisis de ADN fetal (cfDNA, por sus siglas en inglés) en la sangre materna para las trisomías 21, 18 y 13, en función de los resultados de la prueba combinada del primer trimestre en el embarazo gemelar.Métodos Se llevó a cabo un cribado para las trisomías 21, 18 y 13 en 959 embarazos gemelares mediante la evaluación de una combinación de edad materna, grosor de la translucencia nucal del feto, y la ausencia en suero de la hormona gonadotrópica coriónica humana (subunidad B) y la proteína plasmática A asociada al embarazo a las 1...

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Routine first‐trimester screening for fetal trisomies in twin pregnancy: cell‐free DNA test contingent on results from combined test

Galeva

Konstantinidou

Gil

et al. 2018

Ultrasound in Obstet & Gyne

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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%

“…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 . The remaining studies were assessed as low‐risk.…”

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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“…Different strategies for clinical implementation of cfDNA testing in singleton pregnancies, as universal screening or contingent to the results of the CT, are currently under investigation [10][11][12]. Few studies have examined the performance of cfDNA testing in twin pregnancies, and the preliminary results showed similar DR and FPR compared to singletons [7,[13][14][15]. However, the reported test failure rate after the first blood sample appears to be higher than in singletons, with a potential impact on the overall performance of screening, but there is a wide variation from 2.9 to 9.4% among the few published studies [13][14][15].…”

Section: Introductionmentioning

confidence: 99%

Screening for Common Fetal Trisomies in Twin Pregnancies: First-Trimester Combined, Cell-Free DNA, or Both?

et al. 2018

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Objective: To examine the distribution of risks for fetal trisomies after first-trimester combined screening in twins and to investigate different strategies for clinical implementation of cell-free DNA (cfDNA) testing. Methods: We retrospectively analyzed all twin pregnancies undergoing first-trimester combined screening over a 10 years' period. The population was stratified according to various risk cut-offs, and we examined different screening strategies for implementation of cfDNA testing in terms of impact on invasive testing rate, cfDNA test failure rate, and economic costs. Results: We included 572 twin pregnancies: 480 (83.92%) dichorionic and 92 (16.08%) monochorionic. Performing a first-line combined screening and offering cfDNA testing to the group with a risk between 1 in 10 and 1 in 1,000, would lead to an invasive testing rate of 2.45%, and cfDNA testing would be performed in 22.20% of the population. This strategy would be cost-neutral compared to universal combined screening alone. Conclusions: First-trimester combined screening results can be used to stratify twin pregnancies into different risk categories and select those that could be offered cfDNA testing. A contingent screening strategy would substantially decrease the need for invasive testing in twins and it would be cost-neutral compared to combined testing alone.

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Cell-free Fetal DNA Analysis in Maternal Plasma as Screening Test for Trisomies 21, 18, and 13 in Twin Pregnancy

Cited by 11 publications

References 0 publications

Routine first‐trimester screening for fetal trisomies in twin pregnancy: cell‐free DNA test contingent on results from combined test

Routine first‐trimester screening for fetal trisomies in twin pregnancy: cell‐free DNA test contingent on results from combined test

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

Screening for Common Fetal Trisomies in Twin Pregnancies: First-Trimester Combined, Cell-Free DNA, or Both?

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