Cell-free DNA screening for fetal aneuploidy as a clinical service

Cuckle, Howard; Benn, Peter; Pergament, Eugene

doi:10.1016/j.clinbiochem.2015.02.011

Cited by 81 publications

(80 citation statements)

References 85 publications

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“…Previous study reported the Down syndrome detection rate of primary NIPT for all pregnant women is 6-14% higher than the conventional tests with 45-fold FPR (false positive rate.) reduction from meta-analysis [6]. However, the NIPT is still more costly.…”

Section: Discussionmentioning

confidence: 99%

Cost Benefit Analysis of Prenatal Screening Test with Thai NIPT (Thai Non- Invasive Prenatal Test) for Down Syndrome in Developing Countries

Oraluck¹,

Boonsong²,

Wasun³

et al. 2017

Health Care Current Reviews

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Objective: The purpose of this study was to assess cost benefits of prenatal screening test for Down syndrome in developing countries (like Thailand) in order to inform OB/GYN clinical practice and medical/public health policy).Methods: A decision tree model was developed to analyze cost-benefits of the two screening modalities versus conventional screening test as base case. The first screening modality was universal Thai NIPT (Thai Non-invasive Prenatal Test) and the second was contingent Thai NIPT. Input parameters related to clinical values and costs were obtained from both primary and secondary sources for Thai population. One-way analysis and probabilistic sensitivity analysis were performed to evaluate uncertainty surrounding model parameters.Results: Based on the societal perspective, performing universal Thai NIPT and contingent Thai NIPT yielded differences of incremental benefit to incremental cost of -4,472 to -3,784 Thai Baht (-127.77 to -108.11 US$) and 396 to 1,085 (11.31 to 31.00 US$) when each was compared to conventional tests. The ratio of incremental benefit to incremental cost was 0.03 to 0.14 for universal Thai NIPT, respectively and thus cost was saved for contingent Thai NIPT. Conclusion:Applying Thai NIPT as the first line of screening for Down syndrome might be cost beneficial if the price was around 4,047 to 4,795 Thai Baht or US$ 115.63 to 137.00 per test. The contingent Down syndrome screening tests by offering the conventional tests first, then followed by Thai NIPT before performing the invasive screening test which seems to be a cost beneficial alternative approach. Currently, there are three methods of NIPT: Shortgun (genomewide) massively parallel sequencing (s-MPS), targeted (t-MPS) and single nucleotide polymorphism (SNP) methods. NIPT is much more accurate than the conventional tests. Previous study reported the Down syndrome detection rate of primary NIPT for all pregnant women is 6-14% higher than the conventional tests with 45-fold FPR (false positive rate.) reduction from meta-analysis [6]. However, the NIPT is still more costly. In order to inform OB/GYN clinical practice and medical/public health policy, this study was conducted to assess the cost benefit of prenatal screening test for Down syndrome with non-invasive prenatal test in developing countries (like Thailand). The Thai NIPT, a not-for-profit service, has been established and wholly processed at Ramathibodi Hospital, Thailand by using s-MPS since 2014 [7]. Cost Benefit Analysis of Prenatal MethodsThis design was a cross-sectional study and cost benefit analysis,

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Section: Discussionmentioning

confidence: 99%

Cost Benefit Analysis of Prenatal Screening Test with Thai NIPT (Thai Non- Invasive Prenatal Test) for Down Syndrome in Developing Countries

Oraluck¹,

Boonsong²,

Wasun³

et al. 2017

Health Care Current Reviews

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“…Las pruebas se realizaron como se describió anteriormente mediante el uso de metodologías validadas de laboratorio (aislamiento de ADN libre [cfDNA], amplificación de la reacción en cadena de la polimerasa dirigida a 19 488 SNP, secuenciación de alto rendimiento y análisis, a través del algoritmo NATUS [Nextgeneration Aneuploidy Test Using SNPs]). 1,2 Se le realizó la prueba NIPT Panorama a la paciente. La fracción fetal fue del 6%, y los resultados de la prueba fueron negativos para las trisomías 21, 18 y 13, y para la triploidía.…”

Section: Presentación De Un Casounclassified

“…Este enfoque de las pruebas NIPT identifica la presencia de haplotipos fetales adicionales, que indican triploidía o incluso mosaicismo. 1 En el contexto actual, es importante distinguir entre las pruebas de diagnóstico prenatal de aneuploidías y las pruebas de detección prenatal. Una prueba de diagnóstico, por ejemplo, en vellosidades coriónicas, líquido amniótico o sangre fetal, debe tener muy pocos falsos negativos (embarazo aneuploide con diagnóstico e r r ó n e o d e e u p l o i d e ) y f a l s o s p o s i t i v o s (embarazo euploide con diagnóstico erróneo de aneuploide), dado que el resultado fundamentará la decisión de interrumpir o no el embarazo.…”

Section: Introductionunclassified

Recién nacida normal con sospecha prenatal de monosomía del cromosoma X debido a mosaicismo confinado a la placenta

2016

Arch Argent Pediat

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Arch Argent Pediatr 2016;114(5):e362-e365 / e362Presentación de casos clínicos RESUMEN La reciente introducción de las pruebas prenatales no invasivas (NIPT, por sus siglas en inglés) basadas en el ADN libre ofrece un método más preciso que los métodos tradicionales de detección en el suero materno para identificar aneuploidías fetales. La eficacia de las pruebas NIPT para detectar los síndromes de Down, Edwards y Patau se ha demostrado en ensayos clínicos. Sin embargo, los enfoques de las pruebas NIPT que aprovechan la información sobre el polimorfismo de un solo nucleótido (SNP, por sus siglas en inglés) tienen el potencial de identificar triploidías, síndromes de microdeleción cromosómica y otras variantes genéticas no habituales. Para destacar este enfoque de las pruebas NIPT, se presenta un caso poco frecuente de monosomía del cromosoma X debido a mosaicismo confinado a la placenta, del que había una sospecha prenatal por el resultado de una prueba prenatal no invasiva basada en el polimorfismo de un solo nucleótido. Los resultados de las pruebas invasivas (amniocentesis) mostraron una pequeña proporción de mosaicismo del cromosoma X (45, X[5]/46, XX [95]). Después del nacimiento, el cariotipo de la niña no reveló anomalías (46 XX), lo que confirmó que el mosaicismo se limitaba a la placenta. Estos resultados ponen de manifiesto la necesidad del consentimiento informado de la paciente, y del minucioso asesoramiento anterior y posterior a las pruebas, para garantizar que comprenda las limitaciones y las ventajas de dichas pruebas, y las repercusiones de los resultados. Palabras clave: trastorno del cromosoma X, asesoramiento, cariotipo, mosaicismo, placenta. http://dx.doi.org/10.5546/aap.2016.e362 Recién nacida normal con sospecha prenatal de monosomía del cromosoma X debido a mosaicismo confinado a la placenta Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism

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“…Various models are emerging for the delivery of NIPS in actual practice [12]. This includes offering NIPS as a primary screen for all women who formerly received conventional serum and ultrasound based screening, selective use for those who are at high prior risk, or as a contingentbased test for women who are determined to be at high-risk based on conventional screening tests.…”

Section: Introductionmentioning

confidence: 99%

A National Referral Laboratory’s Experience with the Implementation of SNP-Based Non-invasive Prenatal Screening for Fetal Aneuploidy and Select Microdeletion Syndromes

Santamaría¹,

Bermejo²,

Cigarrán³

et al. 2018

Journal of Fetal Medicine

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To retrospectively evaluate the successful test rate and performance of non-invasive prenatal screening (NIPS) for aneuploidies and microdeletions with international transportation of samples. Blood samples from Iberian women with singleton pregnancies were sent to a US laboratory for NIPS for aneuploidy and microdeletion syndromes (22q11.2, 1p36, Cri-du-chat, Prader Willi and Angelman). The NIPS methodology involved the analysis of single nucleotide polymorphisms in cell-free DNA in maternal plasma. Women with high-risk results were offered karyotyping and/or microarray confirmatory studies. Based on 14,175 women with successful testing (98.76% of all referrals), the overall test positive rate was 2.37% (1.9% for aneuploidy and 0.47% for microdeletion syndromes). Based on cases with known outcome, the positive predictive values (PPVs) were: for trisomy 21, 98.6%; trisomy 18, 85.7%; trisomy 13, 71.4%; monosomy-X, 87.5%; other sex chromosome aneuploidies, 100%; 22q11.2 deletion, 15.4%; and other microdeletions combined, 20%. With a protocol change that involved selective use of resequencing at a higher depth of read, the PPV for 22q11.2 deletion increased to 33.3 and 75% for the other microdeletions. Effective NIPS for both aneuploidies and select microdeletion syndromes can be provided even when this involves international transportation of blood specimens.

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Cell-free DNA screening for fetal aneuploidy as a clinical service

Cited by 81 publications

References 85 publications

Cost Benefit Analysis of Prenatal Screening Test with Thai NIPT (Thai Non- Invasive Prenatal Test) for Down Syndrome in Developing Countries

Cost Benefit Analysis of Prenatal Screening Test with Thai NIPT (Thai Non- Invasive Prenatal Test) for Down Syndrome in Developing Countries

Recién nacida normal con sospecha prenatal de monosomía del cromosoma X debido a mosaicismo confinado a la placenta

A National Referral Laboratory’s Experience with the Implementation of SNP-Based Non-invasive Prenatal Screening for Fetal Aneuploidy and Select Microdeletion Syndromes

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