Maternal serum screening for fetal trisomy 18: Benefits of patient-specific risk protocol

2001 ◽  
Vol 185 (2) ◽  
pp. 289-293 ◽  
Author(s):  
W.Allen Hogge ◽  
Luanne Fraer ◽  
Todd Melegari
Keyword(s):  
Maternal Serum ◽  
Trisomy 18 ◽  
Patient Specific ◽  
Maternal Serum Screening ◽  
Specific Risk ◽  
Serum Screening

Maternal Serum Screening for Downs Syndrome, Open Neural Tube Defects and Trisomy 18

2001 ◽  
Vol 39 (6) ◽  
Author(s):  
S. Halide Akbas ◽  
Tomris Özben ◽  
Özgül Alper ◽  
Aysegül Ugur ◽  
Gültekin Yücel ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Maternal Serum Screening ◽  
Downs Syndrome ◽  
Serum Screening

Trisomy 9 screened positive for trisomy 18 by maternal serum screening

2004 ◽  
Vol 24 (10) ◽  
pp. 836-838 ◽  
Author(s):  
Fady Khoury-Collado ◽  
Virginia M. Anderson ◽  
Bruce R. Haas ◽  
Allan J. Fisher ◽  
Allan T. Bombard ◽  
...  
Keyword(s):  
Maternal Serum ◽  
Trisomy 18 ◽  
Maternal Serum Screening ◽  
Trisomy 9 ◽  
Serum Screening

Prospective evaluation of prenatal maternal serum screening for trisomy 18

1998 ◽  
Vol 178 (3) ◽  
pp. 446-450 ◽  
Author(s):  
Jerome Yankowitz ◽  
Amy Fulton ◽  
Roger Williamson ◽  
Stanley S. Grant ◽  
William T. Budelier
Keyword(s):  
Maternal Serum ◽  
Trisomy 18 ◽  
Prospective Evaluation ◽  
Maternal Serum Screening ◽  
Serum Screening

scholarly journals Reproducibility of Risk Figures in 2nd-Trimester Maternal Serum Screening for Down Syndrome: Comparison of 2 Laboratories

2006 ◽  
Vol 52 (11) ◽  
pp. 2087-2094 ◽  
Author(s):  
Peter A Benn ◽  
Gregory S Makowski ◽  
James FX Egan ◽  
Dave Wright
Keyword(s):  
Down Syndrome ◽  
Enzyme Immunoassay ◽  
Computer Modeling ◽  
Computational Algorithm ◽  
Maternal Serum ◽  
Patient Specific ◽  
Diagnostic Systems ◽  
Maternal Serum Screening ◽  
Significant Difference ◽  
Serum Screening

Abstract Background: Analytical error affects 2nd-trimester maternal serum screening for Down syndrome risk estimation. We analyzed the between-laboratory reproducibility of risk estimates from 2 laboratories. Methods: Laboratory 1 used Bayer ACS180 immunoassays for α-fetoprotein (AFP) and human chorionic gonadotropin (hCG), Diagnostic Systems Laboratories (DSL) RIA for unconjugated estriol (uE3), and DSL enzyme immunoassay for inhibin-A (INH-A). Laboratory 2 used Beckman immunoassays for AFP, hCG, and uE3, and DSL enzyme immunoassay for INH-A. Analyte medians were separately established for each laboratory. We used the same computational algorithm for all risk calculations, and we used Monte Carlo methods for computer modeling. Results: For 462 samples tested, risk figures from the 2 laboratories differed >2-fold for 44.7%, >5-fold for 7.1%, and >10-fold for 1.7%. Between-laboratory differences in analytes were greatest for uE3 and INH-A. The screen-positive rates were 9.3% for laboratory 1 and 11.5% for laboratory 2, with a significant difference in the patients identified as screen-positive vs screen-negative (McNemar test, P <0.001). Computer modeling confirmed the large between-laboratory risk differences. Conclusion: Differences in performance of assays and laboratory procedures can have a large effect on patient-specific risks. Screening laboratories should minimize test imprecision and ensure that each assay performs in a manner similar to that assumed in the risk computational algorithm.

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.

Sign in / Sign up

Export Citation Format

Share Document