Sequencing Cell Free DNA in the Maternal Circulation to Screen for Down Syndrome and Other Common Aneuploidies

2014 ◽  
pp. 563-580
Author(s):  
Glenn E. Palomaki
Keyword(s):  
Down Syndrome ◽  
Maternal Circulation ◽  
Cell Free Dna ◽  
Free Dna

scholarly journals Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

2018 ◽  
Vol 26 (10) ◽  
pp. 1490-1496 ◽  
Author(s):  
Karin Huijsdens-van Amsterdam ◽  
Lieve Page-Christiaens ◽  
Nicola Flowers ◽  
Michael D Bonifacio ◽  
Katie M Battese Ellis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
False Negative ◽  
Cell Free Dna ◽  
Free Dna ◽  
Negative Cell

scholarly journals 902: Cell-free DNA for Down syndrome screening in morbidly obese women: Is it a cost-effective strategy?

2019 ◽  
Vol 220 (1) ◽  
pp. S583-S584
Author(s):  
Maeve Hopkins ◽  
Lorraine Dugoff ◽  
Celeste Durnwald ◽  
Laura Havrilesky ◽  
Sarah Dotters-Katz
Keyword(s):  
Down Syndrome ◽  
Cost Effective ◽  
Morbidly Obese ◽  
Effective Strategy ◽  
Obese Women ◽  
Cell Free Dna ◽  
Cost Effective Strategy ◽  
Free Dna ◽  
Down Syndrome Screening

A cost-effectiveness analysis of cell free DNA as a replacement for serum screening for Down syndrome

2015 ◽  
Vol 35 (5) ◽  
pp. 440-446 ◽  
Author(s):  
Brandon S. Walker ◽  
Brian R. Jackson ◽  
Danielle LaGrave ◽  
Edward R. Ashwood ◽  
Robert L. Schmidt
Keyword(s):  
Down Syndrome ◽  
Cost Effectiveness ◽  
Cost Effectiveness Analysis ◽  
Cell Free Dna ◽  
Free Dna ◽  
Effectiveness Analysis ◽  
Serum Screening

Kinetics of fetal cellular and cell-free DNA in the maternal circulation during and after pregnancy: implications for noninvasive prenatal diagnosis

Transfusion ◽  
2001 ◽  
Vol 41 (12) ◽  
pp. 1524-1530 ◽  
Author(s):  
Hiromichi Ariga ◽  
Hitoshi Ohto ◽  
Michael P. Busch ◽  
Shinya Imamura ◽  
Robert Watson ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Circulation ◽  
Cell Free Dna ◽  
Free Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Kinetics Of

Cost of providing cell-free DNA screening for Down syndrome in Finland using different strategies

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Howard Cuckle ◽  
Seppo Heinonen ◽  
Anna-Kaisa Anttonen ◽  
Vedran Stefanovic
Keyword(s):  
Down Syndrome ◽  
Marginal Cost ◽  
Financial Analysis ◽  
False Negative ◽  
Fetal Loss ◽  
Cell Free Dna ◽  
Marginal Costs ◽  
Free Dna ◽  
Screening Strategies ◽  
Combined Test

Abstract Introduction A financial analysis is carried out to assess costs and benefits of providing cell-free DNA screening in Finland, using different strategies. Materials and methods Three cell-free DNA screening strategies are considered: Primary, all women; Secondary, those with positive Combined test; and Contingent, the 10–30% with the highest Combined test risks. Three costs are estimated: additional cost for 10,000 pregnancies compared with the Combined test; ‘marginal’ cost of avoiding a Down syndrome birth which occurs in a pregnancy that would have been false-negative using the Combined test; and marginal cost of preventing the iatrogenic loss of a non-Down syndrome birth which occurs in a pregnancy that would have been false-positive. Results Primary cell-free DNA will require additional funds of €250,000. The marginal cost per Down syndrome birth avoided is considerably less than the lifetime medical and indirect cost; the marginal cost per unaffected iatrogenic fetal loss prevented is higher than one benefit measure but lower than another. If the ultrasound component of the Combined test is retained, as would be in Finland, the additional funds required rise to €992,000. Secondary cell-free DNA is cost-saving as is a Contingent strategy with 10% selected but whilst when 20–30% costs rise they are much less than for the Primary strategy and are cost-beneficial. Conclusions When considering the place of cell-free DNA screening it is important to make explicit the additional and marginal costs of different screening strategies and the associated benefits. Under most assumptions the balance is favorable for Contingent screening.

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