Maternal serum placental growth factor and <i>α</i>‐fetoprotein testing in first trimester screening for Down syndrome

Donalson, Kim; Turner, Steve; Morrison, L.; Liitti, Päivi; Nilsson, Christel; Cuckle, Howard

doi:10.1002/pd.4087

Cited by 26 publications

(36 citation statements)

References 16 publications

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“…The results for trisomy 21 in combined screening with the addition of PLGF and AFP are compatible with the prediction from previous prospective and retrospective case control studies [5,6,15]. This study has shown that measurement of PLGF and AFP is also useful in screening for trisomies 18 and 13.…”

Section: Discussionsupporting

confidence: 78%

First-Trimester Screening for Trisomies 21, 18 and 13 by Ultrasound and Biochemical Testing

et al. 2013

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Objective: To examine the performance of screening for trisomies 21, 18 and 13 at 11-13 weeks' gestation using specific algorithms for these trisomies based on combinations of fetal nuchal translucency thickness (NT), fetal heart rate (FHR), ductus venosus pulsatility index for veins (DV PIV), and serum free β-human chorionic gonadotropin (β-hCG), pregnancy-associated plasma protein A (PAPP-A), placental growth factor (PLGF) and α-fetoprotein (AFP). Methods: Model-based estimates of screening performance were produced for the distribution of maternal ages in England and Wales in 2011, and prospectively collected data on fetal NT, FHR, DV PIV, β-hCG, PAPP-A, PLGF and AFP from singleton pregnancies undergoing aneuploidy screening. Results: In screening by NT, FHR, free β-hCG and PAPP-A, using specific algorithms for trisomy 21 and trisomies 18 and 13 at the risk cutoff of 1:100, the estimated detection rate (DR) was 87.0% for trisomy 21 and 91.8% for trisomies 18 and 13, at a false-positive rate (FPR) of 2.2%. Addition of PLGF, AFP and DV PIV increased the DR to 93.3% for trisomy 21 and 95.4% for trisomies 18 and 13 and reduced the FPR to 1.3%. Conclusions: Effective screening for trisomies can be achieved using specific algorithms based on NT, FHR, DV PIV, β-hCG, PAPP-A, PLGF and AFP.

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Section: Discussionsupporting

confidence: 78%

First-Trimester Screening for Trisomies 21, 18 and 13 by Ultrasound and Biochemical Testing

et al. 2013

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“…Statistical modeling predicted the detection rate for a fixed false‐positive rate when PlGF, AFP or both are used in a serum‐only screening test in combination with existing markers, PAPP‐A and free β‐hCG. Donalson et al . also used modeling to investigate these combinations and reached the same conclusion: that the addition of PlGF alone increases detection more than AFP alone, but the best performance is obtained with a four‐marker test and that this is comparable with a second‐trimester Quad test.…”

Section: Discussionmentioning

confidence: 85%

“…More recently, Bredaki et al . found a median of 0.71 MoM in 100 cases, and Donalson et al . reported 0.76 MoM in 92 cases.…”

Section: Discussionmentioning

confidence: 98%

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First‐trimester Down syndrome screening using additional serum markers with and without nuchal translucency and cell‐free DNA

Johnson

Pastuck²,

Metcalfe

et al. 2013

Prenatal Diagnosis

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Objective This study aimed to evaluate serum-only four-marker first trimester (1T-Quad) Down syndrome screening, alone or contingently to select 10-20% with highest risk for nuchal translucency (NT) or cell-free (cf)DNA.Methods Stored maternal serum samples (À80°C) from 90 pregnancies with fetal Down syndrome and 1607 controls were retrieved and measured for placental growth factor, α-fetoprotein, pregnancy-associated plasma protein and free β-human chorionic gonadotropin. Samples were from singleton pregnancies (9-13 + 6 weeks), and NT was measured between 11 and 13 + 6 weeks. Markers were expressed in multiples of the normal median (MoM) for gestation. Gaussian models were fitted to the distribution of log MoMs by using observed parameters, standardized maternal age distribution (mean 27, SD 5.5) and published cfDNA results. ResultsThe model-predicted detection rate (DR) for 1T-Quad was 74% [5% false-positive rate (FPR)]. When used contingently to select for NT, the DR was 89% at 5%. When used to select for cfDNA, the DR was 91% (FPR < 0.05%). ConclusionThe 1T-Quad test can achieve a similar DR to a second-trimester Quad test. When used contingently to select for NT, the DR is similar to the Combined test. Used contingently to select for cfDNA would achieve even higher detection.

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“…The current DSS tests include the measurement of two maternal serum biomarkers in the first trimester (PAPP-A and free-beta-hCG) and four in the second trimester (alphafeto-protein (AFP), inhibin-A, oestriol and free-beta-hCG or total hCG). Recently it has been reported that the addition of other biomarkers, for example AFP and placental growth factor (PlGF) to the first trimester test has the potential to improve the detection of Down’s syndrome pregnancies and may also help identify pregnancies at high risk of other adverse pregnancy outcomes (preeclampsia and intra-uterine fetal growth restriction) [35,36]. As part of this study we will measure additional maternal serum biomarkers, including AFP and PIGF, in women undergoing DSS at a subset of participating hospitals.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

Hill

Wright

Daley

et al. 2014

BMC Pregnancy Childbirth

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BackgroundNon-invasive prenatal testing (NIPT) for aneuploidies is now available through commercial companies in many countries, including through private practice in the United Kingdom (UK). Thorough evaluation of service delivery requirements are needed to facilitate NIPT being offered more widely within state funded healthcare systems such as the UK’s National Health Service (NHS). Successful implementation will require the development of laboratory standards, consideration of stakeholder views, an analysis of costs and development of patient and health professional educational materials.Methods/DesignNIPT will be offered in an NHS setting as a contingent screening test. Pregnant woman will be recruited through six maternity units in England and Scotland. Women eligible for Down’s syndrome screening (DSS) will be informed about the study at the time of booking. Women that choose routine DSS will be offered NIPT if they have a screening risk ≥1:1000. NIPT results for trisomy 21, 18, 13 will be reported within 7–10 working days. Data on DSS, NIPT and invasive testing uptake, pregnancy outcomes and test efficacy will be collected. Additional data will be gathered though questionnaires to a) determine acceptability to patients and health professionals, b) evaluate patient and health professional education, c) assess informed choice in women accepting or declining testing and d) gauge family expenses. Qualitative interviews will also be conducted with a sub-set of participating women and health professionals.DiscussionThe results of this study will make a significant contribution to policy decisions around the implementation of NIPT for aneuploidies within the UK NHS. The laboratory standards for testing and reporting, education materials and counselling strategies developed as part of the study are likely to underpin the introduction of NIPT into NHS practice.NIHR Portfolio Number13865

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Maternal serum placental growth factor and α‐fetoprotein testing in first trimester screening for Down syndrome

Abstract: Results suggest a substantial benefit of adding PlGF to the combined test.

Cited by 26 publications

References 16 publications

First-Trimester Screening for Trisomies 21, 18 and 13 by Ultrasound and Biochemical Testing

First-Trimester Screening for Trisomies 21, 18 and 13 by Ultrasound and Biochemical Testing

First‐trimester Down syndrome screening using additional serum markers with and without nuchal translucency and cell‐free DNA

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

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