scholarly journals Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study

2018 ◽  
Vol 20 (11) ◽  
pp. 1346-1353 ◽  
Author(s):  
Jean-Marc Costa ◽  
Alexandra Letourneau ◽  
Romain Favre ◽  
Laurent Bidat ◽  
Joelle Belaisch-Allart ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Assisted Reproduction ◽  
Trisomy 21 ◽  
Maternal Serum ◽  
Interventional Study ◽  
Maternal Serum Screening ◽  
Assisted Reproduction Technology ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Serum Screening

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.

Stability of free β-subunit in routine practice for trisomy 21 maternal serum screening

1999 ◽  
Vol 19 (1) ◽  
pp. 85-86 ◽  
Author(s):  
Françoise Muller ◽  
Christophe Doche ◽  
Sandrine Ngo ◽  
Sébastien Faïna ◽  
Marie-Antoinette Charvin ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Maternal Serum ◽  
Routine Practice ◽  
Β Subunit ◽  
Maternal Serum Screening ◽  
Serum Screening

Single-Step Maternal Serum Screening for Trisomy 21 in the Era of Combined or Integrated Screening

2004 ◽  
Vol 58 (4) ◽  
pp. 221-224 ◽  
Author(s):  
Wilfried J.A. Gyselaers ◽  
Annie J. Vereecken ◽  
Erik van Herck ◽  
Dany P.L. Straetmans ◽  
Eric T.M. de Jonge ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Maternal Serum ◽  
Single Step ◽  
Maternal Serum Screening ◽  
Serum Screening ◽  
Integrated Screening

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.

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