Performance of screening for aneuploidies by cell‐free <scp>DNA</scp> analysis of maternal blood in twin pregnancies

Bevilacqua, Elisa; Gil, M. M.; Nicolaides, Kypros H.; Ordóñez, Elena; Cirigliano, Vincenzo; Dierickx, H.; Willems, Patrick J.; Jani, Jacques

doi:10.1002/uog.14690

Cited by 120 publications

(126 citation statements)

References 28 publications

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“…Although the total fetal fraction of twin pregnancies might be higher than that of singletons10, the individual contribution from each twin is generally lower than that of a singleton8, 9; however, there may be exceptions. In our study, the average combined fetal fraction of both twins (16.1%) was higher than determined previously for singletons over similar gestational‐age ranges (12.6%; P = 0.001)21, and higher still than the average fetal fraction for a single twin (7.8%; P < 0.0001), consistent with the previously mentioned studies.…”

Section: Discussionmentioning

confidence: 93%

“…Traditionally, prenatal aneuploidy screening options have been less robust for twin pregnancies than for singletons6, whereas the miscarriage risk associated with invasive diagnostic procedures is higher in twins7. Preliminary data have suggested that NIPT is a feasible test option for twin gestations8, 9, 10. Currently, due to the paucity of reported studies in twins, professional societies and others have called for more studies on NIPT performance in twin gestations11, 12, 13, 14.…”

Section: Introductionmentioning

confidence: 99%

“…Although the total fetal fraction has been shown to be as much as 35% higher in twin pregnancies when compared with singletons10, the fetal fraction per twin is lower8, 9. Furthermore, it has been shown that individual cfDNA contribution from each twin could differ by as much as two‐fold15, 16.…”

Section: Introductionmentioning

confidence: 99%

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Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Fosler

Winters

Jones

et al. 2017

Ultrasound in Obstet & Gyne

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ObjectivesTo describe our experience with non‐invasive prenatal testing (NIPT) in twin pregnancy.MethodsTwo sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT was used to screen for the presence of fetal aneuploidy on chromosomes 13, 18, 21, X and Y in all cases, and results were compared with outcomes when known.ResultsIn Clinical Study A, all 115 samples were classified correctly by NIPT: three cases of trisomy 21 (one fetus affected), one of monochorionic trisomy 18 (both fetuses affected) and 111 euploid. In Clinical Study B, a NIPT result was reported for 479 (98.4%) of the 487 samples. Aneuploidy was detected or suspected in nine (1.9%) cases: seven cases of trisomy 21 detected, one case of trisomy 21 suspected and one case with trisomy 21 detected and trisomy 18 suspected. Information on aneuploidy outcome was available for 171 (35.7%) cases in Clinical Study B. Of the nine cases with aneuploidy detected or suspected, six were confirmed to be a true positive in at least one twin based on karyotype or birth outcome and two were suspected to be concordant based on ultrasound findings; the one known discordant result was for the aneuploidy suspected case. No false negatives were reported.Conclusion NIPT performed well in the detection of trisomy 21 in twin pregnancy, with a combined false‐positive frequency for trisomies 13, 18 and 21 of 0% for Clinical Study A and 0.2% for Clinical Study B. © 2016 Illumina. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

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Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

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Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Fosler

Winters

Jones

et al. 2017

Ultrasound in Obstet & Gyne

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“…There are also sufficient data to suggest that cfDNA testing is feasible in twin pregnancy, although it seems to be associated with a higher failure rate than in singleton pregnancy 2 .…”

Section: Concerns With Performance Of Screening For Aneuploidy By Celmentioning

confidence: 99%

“…Apart from twin pregnancy, other potential causes of failure and discordant results of cfDNA analysis have been identified: fetoplacental mosaicism, maternal chromosomal abnormalities, vanishing twin, maternal weight, conception by in-vitro fertilization (IVF), low fetal DNA fraction and technical errors 2,3 .…”

Section: Concerns With Performance Of Screening For Aneuploidy By Celmentioning

confidence: 99%

Concerns with performance of screening for aneuploidy by cell‐free DNA analysis of maternal blood in twin pregnancy

Bevilacqua

Guizani

Sanchez

et al. 2015

Ultrasound in Obstet & Gyne

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Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Badeau

Lindsay

Blais

et al. 2017

Cochrane Database of Systematic Reviews

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These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high-risk populations. There is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. With respect to the replacement of invasive tests, the performance of gNIPT observed in this review is not sufficient to replace current invasive diagnostic tests.We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome. However, most of the gNIPT studies were prone to bias, especially in terms of the selection of participants.

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Performance of screening for aneuploidies by cell‐free DNA analysis of maternal blood in twin pregnancies

Abstract: Objectives

Cited by 120 publications

References 28 publications

Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Concerns with performance of screening for aneuploidy by cell‐free DNA analysis of maternal blood in twin pregnancy

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

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