Screening for trisomies 21 and 18 in a Spanish public hospital: from the combined test to the cell-free DNA test

Gil, M. M.; Brik, Maia; Pedraz, Cristina Casanova; Martin-Alonso, Raquel; Verdejo, M; Ramírez, Esther Limón; Santacruz, B.

doi:10.1080/14767058.2016.1253062

Cited by 12 publications

(26 citation statements)

References 20 publications

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“…Our median maternal age was 31 years, which was comparable to other values registered in Spain (32.4 years in 2016) [23], Romania (29.6 years in 2017) [18,24] or in Poland (34 years in 2017) [19], for first-trimester screening population.…”

Section: Discussionsupporting

confidence: 67%

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

et al. 2018

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Objectives: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. Material and methods:We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A).Results: 87% of patients were evaluated using all the additional ultrasound markers and 97% of patients were assessed using at least two markers, in any combination. 70.5% of patients were also evaluated using maternal serum biochemistry. The most common risk calculation used nuchal translucency, FHR, all additional ultrasound markers, fβ-hCG and PAPP-A in 851 (62.7%) of cases. The adjusted risk of trisomy 21 was greater than 1:100 in 65 (4.8%) women. Of these patients, 58 (87.7%) chose to have an invasive test. There were 24 aneuploid fetuses (1.7%); and from these we identified 12 (50%) trisomy 21, 6 (25%) sex chromosome anomalies, with the remainder being triploidy and trisomy 18/13. The combined test detected 11 of the 12 cases as having trisomy 21, with a first trimester detection rate of 91.7%. 39 fetuses (2.8%) had various types of structural anomalies. Conclusion:The combined test enhanced with all additional ultrasound markers did not show any substantial improvement in T21 detection rate, when compared with using only one of the additional markers.

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Section: Discussionsupporting

confidence: 67%

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

et al. 2018

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“…The number of women included ranged from 799 to 6011 per study. Not all women were offered cfDNA testing; the number ranged from 72 to 1198 .…”

Section: Resultsmentioning

confidence: 99%

“…In total, 3074 samples were successfully tested using a microarray‐based cfDNA test and had a suitable reference standard, including 187 T21, 43 T18, and 19 T13 cases. Four studies included women with singleton pregnancies only, and one study included a mixed population of singleton and twin pregnancies (759 and 40 women, respectively) …”

Section: Resultsmentioning

confidence: 99%

“…Two studies compared the accuracy of cfDNA testing and standard screening approaches in first‐trimester pregnant women with low (no fetal ultrasound anomalies detected) or general (no prior testing) chance of fetal trisomies. One study reported the test accuracy of cfDNA testing in first‐trimester pregnant women at higher chance of fetal trisomies (first trimester combined screening showed chance >1:250 without fetal anomalies detected on ultrasound) . The two remaining studies assessed the test accuracy of microarray‐based cfDNA testing in populations with high trisomy prevalence and an unclear proportion of first‐trimester pregnancies .…”

Section: Resultsmentioning

confidence: 99%

“…The Fetal Fraction Optimized Risk of Trisomy Evaluation (FORTE) was used to estimate the chance of having a baby with trisomy 21, 18, or 13. A higher‐chance result was defined as a chance ≥1:100 in four studies, while the cut‐off used was not reported in one study …”

Section: Resultsmentioning

confidence: 99%

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Antenatal screening for fetal trisomies using microarray‐based cell‐free DNA testing: A systematic review and meta‐analysis

et al. 2019

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Objective To evaluate the test accuracy of non‐invasive prenatal testing (NIPT) for fetal trisomy 21, 18, and 13 using cell‐free (cf) DNA analysis in maternal plasma with microarray quantitation. Method Systematic review and meta‐analysis. Searches in MEDLINE, Pre‐MEDLINE, EMBASE, Web of Science, and the Cochrane Library to 09.07.2018. Results Five studies analyzing 3074 samples, including 187 trisomy 21, 43 trisomy 18, and 19 trisomy 13 cases, were identified. Risk of bias was high in all studies, introduced particularly by exclusions from analysis and by the role of the sponsor. Sensitivity of microarray‐based cfDNA testing was 99.5% (95%CI 96.3%‐99.9%) for trisomy 21, 97.7% (95%CI 87.9%‐99.6%) for trisomy 18, and 100% (95%CI 83.2%‐100%) for trisomy 13. Specificity was 100% (95% CI 99.87%‐100%) for trisomy 21, 99.97% (95%CI 99.81%‐99.99%) for trisomy 18, and 99.97% (95%CI 99.81%‐99.99%) for trisomy 13. Pooled test failure rate was 1.1%. A direct comparison of microarray‐ and sequencing‐based cfDNA found equivalent test accuracy. Conclusion Included studies suggest that NIPT using microarray‐based cfDNA testing has high sensitivity and specificity for detecting fetal trisomy 21, 18, and 13. However, the evidence base is small and at high risk of bias.

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Clinical performance of DNA‐based prenatal screening using single‐nucleotide polymorphisms approach in Thai women with singleton pregnancy

Panchalee

Poungvarin

Amornrit

et al. 2020

Molec Gen & Gen Med

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BackgroundTo review the performance of noninvasive prenatal screening (NIPS) using targeted single‐nucleotide polymorphisms (SNPs) approach in mixed‐risk Thai women.MethodsRetrospective analysis of data for detection of trisomy 21 (T21), 18 (T18), 13 (T13), monosomy X (XO), other sex chromosome aneuploidies (SCA), and triploidy/vanishing twins (VT) from a single commercial laboratory.ResultsMean (±SD) gestational age and maternal weight were 13.2 (±2.1) weeks and 125.7 (±22.4) pounds, respectively (n = 8,572). From 462/8,572 (5.4%) no‐calls; 1/462 (0.2%) was uninformative SNPs, and 1/462 chose amniocentesis. Redraw settled 323/460 (70%) samples with low fetal fraction (FF); and 8,434/8,572 (98.4%) were finally reportable, with 131 high risks (1.6%). The median (min‐max) FF of reportable (n = 8,434) and unreportable samples (n = 137) samples were 10.5% (2.6–37.9) and 3.8% (1–14.1), respectively (p < .05). Fetal karyotypes were available in 106/131 (80.9%) and 52/138 (37.7%) high risk and repeated no‐calls, respectively. The positive predictive values (PPVs) for T21 (n = 47), T18 (n = 15), T13 (n = 7), XO (n = 8), other SCA (n = 7), and triploidy/VT were 94%, 100%, 58.3%, 66.7%, 70%, and 57.1%, respectively. None of repeated no‐calls had aneuploidies.ConclusionSNP‐based NIPS has high PPVs for T21 and T18. Although the proprietary SNPs library is not population‐specific, uninformative SNPs are uncommon.

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Screening for trisomies 21 and 18 in a Spanish public hospital: from the combined test to the cell-free DNA test

Abstract: Contingent screening for trisomies 21 and 18 by cfDNA testing at 11-13 weeks is feasible and has a lower IT rate than combined testing alone.

Cited by 12 publications

References 20 publications

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

Antenatal screening for fetal trisomies using microarray‐based cell‐free DNA testing: A systematic review and meta‐analysis

Clinical performance of DNA‐based prenatal screening using single‐nucleotide polymorphisms approach in Thai women with singleton pregnancy

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