scholarly journals Usefulness and reliability of cell free fetal DNA screening for main trisomies in case of atypical profile on first trimester maternal serum screening

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Julie Carrara ◽  
Alexandre Vivanti ◽  
Jacques C. Jani ◽  
Adèle Demain ◽  
Jean-Marc Costa ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Vascular Complications ◽  
First Trimester ◽  
Multivariate Regression Analysis ◽  
Primary Objective ◽  
Maternal Serum ◽  
Trisomy 13 ◽  
Maternal Serum Screening ◽  
Cell Free Fetal Dna ◽  
Atypical Values

Abstract Background Patients with atypical values of HCG and/or PAPP-A are at higher risk of chromosomal abnormality and vascular complications of pregnancy. The performance of cfDNA in this particular population has not yet been evaluated. Objectives The primary objective was to evaluate the usefulness and reliability of cfDNA in screening for trisomy 21, 18 and 13 for patients with HCG < 0.25 multiple of median (MoM), HCG > 5.0 MoM and/or PAPP-A < 0.25 MoM, PAPP-A > 2.5 MoM. The secondary objective was to evaluate the contribution of cfDNA assay for the prediction of pregnancy’s vascular complications. Method Between June 2016 and July 2017, we analysed a women cohort from all over France who had at least one first trimester serum biomarker outside of normal range, in a retrospective, observational and multicentre study. Patients were included if they had a single pregnancy, normal first trimester ultrasound examination, whatever the result of the combined first trimester screening test was. The cfDNA was analysed by massive parallel sequencing technique. The accuracy of cfDNA assay was evaluated by calculation of sensitivity and specificity, and multivariate regression analysis was used to search for predictive factors for pregnancy’s vascular complications. Results Among the 498 patients who underwent a cfDNA assay in this context, twenty-one (4.2%) were excluded because of loss to follow-up. Out of 477, test failure occurred for four patients initially, reduced to two patients (0.4%) after redrawn. CfDNA was positive for Trisomy 21 (n = 19), Trisomy 18 (n = 6) and Trisomy 13 (n = 1) and negative in 449. The sensitivity of cfDNA assay for trisomy 21 screening was 100% (19/19) (IC 95% 82.4–100) and specificity 100% (458/458) (IC 95% 99.2–100). Among the 447 patients included for prediction of vascular complications, there were four cases of pregnancy induced hypertension and 10 cases of preeclampsia, for which no predictive factor was identified. Intra Uterine growth restriction under 5th percentile (n = 44, 9.8%) was significantly associated with a low fetal fraction (OR = 0.87, IC 95% 0.79–0.96, p = 0.006). Conclusion cfDNA assay is an effective and reliable tool for women with atypical profile of first trimester serum biomarkers.

Prenatal Screening Technologies and Test Issues

2017 ◽  
Author(s):  
Danielle LaGrave ◽  
Patricia L. Devers Winters ◽  
Geralyn Lambert-Messerlian
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
Molecular Genetic ◽  
First Trimester ◽  
Maternal Serum ◽  
Patient Specific ◽  
Maternal Serum Screening ◽  
Plasma Fraction ◽  
Cell Free Fetal Dna ◽  
Serum Screening

Maternal serum screening began with the measurement of serum alpha fetal protein to detect open neural tube defects, which led to the implementation of routine serum-based prenatal screening in the second trimester for Down syndrome. Advances via combined and integrated screening allowed for the first-trimester detection of both Down syndrome and trisomy 18. Next-generation sequencing has enabled the identification of aneuploidies in circulating cell-free fetal DNA from the plasma fraction of maternal whole blood. This breakthrough in molecular genetic testing, commonly referred to as noninvasive prenatal testing, has revolutionized prenatal screening and testing for genetic disorders without posing additional risk to the pregnancy. This chapter reviews the history of maternal serum screening, the disorders it can detect, the methods of calculating patient-specific risk, and reasons for recalculation or adjustment of risk. This chapter also reviews of cell-free DNA-based testing for fetal aneuploidies, including its limitations and potential.

First-Trimester Contingent Screening for Trisomy 21 by Fetal Nuchal Translucency and Maternal Serum Biomarkers and Maternal Blood Cell-Free DNA Testing

2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Author(s):  
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  
...  
Keyword(s):  
Blood Cell ◽  
Trisomy 21 ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Serum Biomarkers ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

scholarly journals Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Tianhua Huang ◽  
Clare Gibbons ◽  
Shamim Rashid ◽  
Megan K. Priston ◽  
H. Melanie Bedford ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
Rolling Circle Amplification ◽  
False Positive Rate ◽  
Diagnostic Testing ◽  
First Trimester ◽  
Aneuploidy Screening ◽  
Comparative Performance ◽  
Cell Free Fetal Dna ◽  
Cfdna Screening

Abstract Background Prenatal screening for chromosome aneuploidies have constantly been evolving, especially with the introduction of cell-free fetal DNA (cfDNA) screening in the most recent years. This study compares the performance, costs and timing of test results of three cfDNA screening implementation strategies: contingent, reflex and primary. Methods We modelled enhanced first trimester screening (eFTS) as the first-tier test in contingent or reflex strategies. cfDNA test was performed contingent on or reflex from eFTS results. A comparison was made between cfDNA screening using sequencing technology and Rolling Circle Amplification (RCA)/imaging solution. All model assumptions were based on results from previous publications or information from the Ontario prenatal screening population. Results At an eFTS risk cut-off of ≥1/1000, contingent and reflex cfDNA screening have the same detection rate (DR) (94%) for trisomy 21. Reflex cfDNA screening using RCA/Imaging solution provided the lowest false positive rate and cost. The number of women requiring genetic counselling and diagnostic testing was significantly reduced and women received their cfDNA screening result 9 days sooner compared with the contingent model. While primary cfDNA screening improved the trisomy 21 DR by 3–5%, it was more costly and more women required diagnostic testing. Conclusion Reflex cfDNA screening is the most cost-effective prenatal screening strategy. It can improve the efficiency of prenatal aneuploidy screening by reducing the number of patient visits and providing more timely results.

Maternal serum ADAM12s in the late first trimester of pregnancies with Trisomy 21

2008 ◽  
Vol 28 (5) ◽  
pp. 422-424 ◽  
Author(s):  
Kevin Spencer ◽  
Nicholas J. Cowans ◽  
Anastasia Stamatopoulou
Keyword(s):  
Trisomy 21 ◽  
First Trimester ◽  
Maternal Serum

Screening for Down syndrome in the first trimester

1995 ◽  
Vol 7 (6) ◽  
pp. 1413 ◽  
Author(s):  
KJ Powell ◽  
JG Grudzinskas
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Published Data ◽  
Maternal Serum Screening ◽  
Ultrasound Findings ◽  
Serum Screening ◽  
Associated Proteins ◽  
Trimester Screening

Second-trimester maternal serum screening for Down syndrome is now well established, and permits detection of up to 70% of cases. The disadvantage of this sort of screening is that the timing of maternal blood sampling is relatively late (after 15 weeks). There is an accumulating body of evidence to suggest that in the first trimester concentrations of a number of pregnancy-associated proteins and hormones differ in chromosomally normal and abnormal pregnancies. A first-trimester maternal serum screening test for Down syndrome may therefore be possible. In addition, new methods of screening have recently been described based on ultrasound findings at 11 to 13 weeks of gestation. This review article presents a discussion of published data on the feasibility of first-trimester screening for Down syndrome.

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