Ultrasound findings before amniocentesis in selecting the method of analysing the sample

Kagan, Karl Oliver; Chitty, Lyn S.; Cicero, S.; Eleftheriades, Makarios; Nicolaides, Kypros H.

doi:10.1002/pd.1615

Cited by 21 publications

(17 citation statements)

References 15 publications

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“…Large-scale QF-PCR tests, performed in other diagnostic centres are basically in agreement with our investigations, thus confirming that although deliberately targeted to the analysis of selected disorders affecting three autosomes and the sex chromosomes, QF-PCR can detect the great majority of chromosome abnormalities in prenatal samples (Pertl et al, 1996(Pertl et al, , 1999aSchmidt et al, 2000;Levett et al, 2001;Bili et al, 2002;Mann et al, 2004;Brown et al, 2006;Ochshorn et al, 2006;Vrbicka et al, 2006;Kagan et al,2007).…”

Section: Discussionsupporting

confidence: 88%

“…In fetuses with abnormal ultrasound findings, the molecular assay detected 95% of all abnormalities diagnosed by cytogenetic analysis, clearly indicating that this is the particular risk category where it is possible to find chromosomal abnormalities that the molecular assay is not designed to detect (Cirigliano et al, 2005). These observations have recently been confirmed by retrospective analyses of large series of CVSs (Chitty et al, 2006) and amniotic fluids (Kagan et al, 2007) confirming fetal ultrasound as the main indication to decide if QF-PCR should be followed by a full fetal karyotype.…”

Section: Discussionmentioning

confidence: 86%

See 1 more Smart Citation

Rapid prenatal diagnosis of common chromosome aneuploidies by QF‐PCR, results of 9 years of clinical experience

Cirigliano

Voglino²,

Ordóñez

et al. 2009

Prenatal Diagnosis

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Our study supports the possibility of reducing the load of prenatal cytogenetic tests if the pregnancies are carefully monitored by non-invasive screening. In case of abnormal QF-PCR results, medical action can be taken within few hours from sampling. In cases of negative QF-PCR results, cytogenetic analyses might only be performed for fetuses with ultrasound abnormalities. In countries where large-scale cytogenetic tests are not available, QF-PCR may be used as the only prenatal diagnostic procedure.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 86%

Rapid prenatal diagnosis of common chromosome aneuploidies by QF‐PCR, results of 9 years of clinical experience

Cirigliano

Voglino²,

Ordóñez

et al. 2009

Prenatal Diagnosis

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“…We have not accounted for this on our model, which focuses on DS. Prenatal diagnosis programmes may need to consider the use of invasive tests in pregnancies where the NIPT test is normal, but increased nuchal translucency or other structural abnormalities suggest other chromosomal rearrangements [39], [40]. This requires further evaluation when NIPT is used in clinical practice.…”

Section: Discussionmentioning

confidence: 99%

Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down’s Syndrome Using Cell Free Fetal DNA in the UK National Health Service

et al. 2014

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BackgroundNon-invasive prenatal testing (NIPT) for Down’s syndrome (DS) using cell free fetal DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis is delivered. Before NIPT can be implemented into routine practice, information is required on its costs and benefits. We investigated the costs and outcomes of NIPT for DS as contingent testing and as first-line testing compared with the current DS screening programme in the UK National Health Service.MethodsWe used a pre-existing model to evaluate the costs and outcomes associated with NIPT compared with the current DS screening programme. The analysis was based on a hypothetical screening population of 10,000 pregnant women. Model inputs were taken from published sources. The main outcome measures were number of DS cases detected, number of procedure-related miscarriages and total cost.ResultsAt a screening risk cut-off of 1∶150 NIPT as contingent testing detects slightly fewer DS cases, has fewer procedure-related miscarriages, and costs the same as current DS screening (around UK£280,000) at a cost of £500 per NIPT. As first-line testing NIPT detects more DS cases, has fewer procedure-related miscarriages, and is more expensive than current screening at a cost of £50 per NIPT. When NIPT uptake increases, NIPT detects more DS cases with a small increase in procedure-related miscarriages and costs.ConclusionsNIPT is currently available in the private sector in the UK at a price of £400-£900. If the NHS cost was at the lower end of this range then at a screening risk cut-off of 1∶150 NIPT as contingent testing would be cost neutral or cost saving compared with current DS screening. As first-line testing NIPT is likely to produce more favourable outcomes but at greater cost. Further research is needed to evaluate NIPT under real world conditions.

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“…Furthermore, failure to detect some of these aneuploidy cases should be weighed against the risk of miscarriage or the anxiety caused by copy number variants of unknown signiﬁcance, poorly deﬁned penetrance and/or variable expressivity [6]. Future directions might support the option of invasive prenatal diagnosis in cases where the NIPT was normal but the fetus has increased NT or structural abnormalities detected prenatally, as this is the group most likely to have other chromosomal rearrangements [49,50]. Chitty et al [51] reported that MLPA is able to detect 94.7%, compared to 68.4% by traditional karyotyping, of pathogenic rearrangements conferring a significant risk of adverse outcome.…”

Section: Discussionmentioning

confidence: 99%

Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study

et al. 2015

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Objectives: The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT). Methods: This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype. Results: The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21.4%), including 1,009 with a likely clinically significant adverse outcome. Universal CVS with full karyotyping would lead to the diagnosis of all clinically significant abnormalities. A policy of relying solely on NIPT would have led to the diagnosis of 88.9% of clinically significant abnormalities. A strategy whereby NIPT is the main method, with CVS reserved for cases with NT ≥3.0 mm, would require CVS in 21.7% of cases, identify 94.8% of significant abnormalities and avoid miscarriage in 41 pregnancies compared to CVS for all. Conclusions: A policy of NIPT for increased-risk cases and CVS with full karyotype if the NT was ≥3.0 mm reduced the risk of miscarriage yet still identified 95% of clinically significant aneuploidy.

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Ultrasound findings before amniocentesis in selecting the method of analysing the sample

Abstract: More than 95% of the aneuploidies can be detected if karyotyping is performed in addition to qf-PCR in about 15% of the cases selected on the basis of ultrasound findings before amniocentesis.

Cited by 21 publications

References 15 publications

Rapid prenatal diagnosis of common chromosome aneuploidies by QF‐PCR, results of 9 years of clinical experience

Rapid prenatal diagnosis of common chromosome aneuploidies by QF‐PCR, results of 9 years of clinical experience

Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down’s Syndrome Using Cell Free Fetal DNA in the UK National Health Service

Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study

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