Analysis of cell‐free <scp>DNA</scp> in maternal blood in screening for fetal aneuploidies: updated meta‐analysis

Gil, M. M.; Quezada, M.S.; Revello, Rocío; Akolekar, Ranjit; Nicolaides, Kypros H.

doi:10.1002/uog.14791

Cited by 595 publications

(523 citation statements)

References 102 publications

(376 reference statements)

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“…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%

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: Introductionmentioning

confidence: 99%

Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Fosler

Winters

Jones

et al. 2017

Ultrasound in Obstet & Gyne

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“…[1][2][3] Weighted pooled detection rates and falsepositive rates for trisomy 21, 18, 13, monosomy X and other sex aneuploidies are reported at 99.2% (0.09%), 96.3% (0.13%), 91% (0.13%), 90.3% (.23%) and 93% (0.14%) respectively. 4 This reflects a higher sensitivity, lower false positive rate and thus higher positive predictive values for trisomy 21 and 18 when compared with standard screening protocols. 5,6 The superior test performance characteristics, along with commercial marketing, have rapidly shifted the paradigm of prenatal screening in high-risk women and increased utilization is expected in low-risk women.…”

Section: Introductionmentioning

confidence: 99%

Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)

et al. 2016

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Objective Evaluate patient choices and outcomes following positive cfDNA.Method Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, diagnostic testing, karyotype and outcome.Results CfDNA was positive in 114 women; 105 singletons and 9 twin pairs. CfDNA was positive for autosomal trisomy (21, 18, 13) in 96 (84.2%) and sex chromosome aneuploidy in 18 (15.8%). Certified genetic counselors performed 95% of post-cfDNA counseling. Prenatal diagnostic testing was pursued by 71/114 (62%). Karyotype was available in 91/105 (86.7%) singletons and confirmed aneuploidy in 75/91 (82.4%); the PPV of cfDNA with any ultrasound finding was 93.6% versus 58.6% without a finding. An abnormal sonographic finding was seen in 4/16 (25%) singletons with false positive cfDNA. Fetal termination occurred in 53/79 (67%) singletons and 3/5 (60%) twins with prenatal abnormal or unknown karyotype for autosomal trisomy. Eleven fetuses (11/56, 19.6%) were terminated for suspected autosomal trisomy without karyotype confirmation.Conclusion Patient choices following positive cfDNA are varied. Ultrasound modifies the PPV of cfDNA. Termination rates for aneuploidy are not higher than historical controls. Recommendation for karyotype confirmation prior to termination is not universally followed.

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“…1 NIPT can be used from 10 weeks in pregnancy to screen for DS with high sensitivity (99.3%) and specificity (99.8%) and can detect other common chromosomal aneuploidies (Trisomy 18, Trisomy 13, and Monosomy X). 2,3 NIPT allows screening for these conditions with much greater specificity than traditional DS screening (DSS) 4 and thereby significantly reduces the need for invasive testing (chorionic villus sampling or amniocentesis) with the associated small miscarriage risk. 5 Following the first evidence in 2008 that NIPT for DS was feasible, 6,7 this test has moved swiftly into clinical practice with testing available in the private sector since 2011.…”

Section: Introductionmentioning

confidence: 99%

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

et al. 2015

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Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the preferences of women and health professionals from nine different countries towards attributes of non-invasive and invasive prenatal tests for Down syndrome. A discrete choice experiment was used to obtain participants' stated preference for prenatal tests that varied according to four attributes: accuracy, time of test, risk of miscarriage, and type of information. Pregnant women and health professionals were recruited from Canada, Denmark, Iceland, Israel, Italy, the Netherlands, Portugal, Singapore, and the United Kingdom. A total of 2666 women's and 1245 health professionals' questionnaires were included in the analysis. Differences in preferences were seen between women and health professionals within and between countries. Overall, women placed greater emphasis on test safety and comprehensive information than health professionals, who emphasised accuracy and early testing. Differences between women's and health professionals' preferences are marked between countries. Varied approaches to implementation and service delivery are therefore needed and individual countries should develop guidelines appropriate for their own social and screening contexts. INTRODUCTIONMany countries have established prenatal screening programmes for Down syndrome (DS), where an initial screening test is followed by the offer of an invasive diagnostic test for women with a 'high risk' result to allow definitive diagnosis. Non-invasive prenatal testing (NIPT), which analyses cell-free DNA in maternal plasma, is rapidly transforming prenatal testing for DS worldwide. 1 NIPT can be used from 10 weeks in pregnancy to screen for DS with high sensitivity (99.3%) and specificity (99.8%) and can detect other common chromosomal aneuploidies (Trisomy 18, Trisomy 13, and Monosomy X). 2,3 NIPT allows screening for these conditions with much greater specificity than traditional DS screening (DSS) 4 and thereby significantly reduces the need for invasive testing (chorionic villus sampling or amniocentesis) with the associated small miscarriage risk. 5

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Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis

Abstract: 18, 91.0% (95% CI, for trisomy 13, 90.3% (95% CI, for monosomy X and 93.0% (95% CI, for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR for trisomy 21 was 93.7% (95% CI,

Cited by 595 publications

References 102 publications

Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

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