Abstract:
OBJECTIVE:To examine the cost and performance implications of introducing cell-free fetal DNA (cffDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program. METHOD:Two clinical algorithms were created: the first to represent the current screening program and the second to represent one that incorporates cffDNA testing. From these algorithms, eight distinct scenarios were modeled to examine: (1) the current program (no cffDNA), (2) the current program with first trimester screening (FTS) as the nuchal translucency-based primary screen (no cffDNA), (3) a program substituting current screening with primary cffDNA, (4) contingent cffDNA with current FTS performance, (5) contingent cffDNA at a fixed price to result in overall cost neutrality,(6) contingent cffDNA with an improved detection rate (DR) of FTS, (7) contingent cffDNA with higher uptake of FTS, and (8) contingent cffDNA with optimized FTS (higher uptake and improved DR). RESULTS:This modeling study demonstrates that introducing contingent cffDNA testing improves performance by increasing the number of cases of DS detected prenatally, and reducing the number of amniocenteses performed and concomitant iatrogenic pregnancy loss of pregnancies not affected by DS. Costs are modestly increased, although the cost per case of DS detected is decreased with contingent cffDNA testing. CONCLUSION:Contingent models of cffDNA testing can improve overall screening performance while maintaining the provision of an 11- to 13-week scan. Costs are modestly increased, but cost per prenatally detected case of DS is decreased.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Okun N,Teitelbaum M,Huang T,Dewa CS,Hoch JSdoi
10.1002/pd.4311subject
Has Abstractpub_date
2014-04-01 00:00:00pages
350-6issue
4eissn
0197-3851issn
1097-0223journal_volume
34pub_type
杂志文章abstract::A reliable cost-effective protocol for the diagnosis of various defective genes in single blastomeres from preimplantation embryos has been established. Single cells were lysed in alkali buffer followed by neutralization and addition of a solution containing a high concentration of sulfhydryl reducing agents and MgCl(...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
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abstract::Between February 1994 and February 1997 a group of 881 women completed a questionnaire on the use of folic acid. During the study period the percentage of women who had been informed about the benefits of folic acid rose from 41 per cent to 90 per cent and the percentage taking supplementation rose from 18 per cent to...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2137
更新日期:2008-12-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200103)21:3<159::aid-pd20>3.0.co
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journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
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journal_title:Prenatal diagnosis
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doi:10.1002/(sici)1097-0223(199702)17:2<125::aid-pd43>
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
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journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究,评审
doi:10.1002/pd.57
更新日期:2001-04-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
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更新日期:1985-05-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5847
更新日期:2020-10-17 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.727
更新日期:2003-11-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150914
更新日期:1995-09-01 00:00:00
abstract::We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121105
更新日期:1992-11-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110912
更新日期:1991-09-01 00:00:00
abstract::A method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus-specific NT measurements are averaged before risk is ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.627
更新日期:2003-07-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5505
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE:The objective of this study is to combine multiplex ligation-dependent probe amplification (MLPA) and bisulfite sequencing to determine DNA methylation markers for noninvasive prenatal diagnosis of Down syndrome. METHODS:DNA methylation ratios (MR) of four fragments (CGI149, CGI045, HLCS-1, and HLCS-2) on ch...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4256
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the utility of determining the presence/absence of nasal bone in a low-risk fetal population. METHODS:Prospective study of the presence/absence of nasal bone among 1800 consecutive unselected fetuses, with complete follow-up of results. RESULTS:An adequate sonographic evaluation of nasal bone wa...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1345
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVE:Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. METHOD:The number of tests per Down, Edwards or Patau syndrome diagnosis adjus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3866
更新日期:2012-06-01 00:00:00
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pub_type: 信件
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更新日期:2015-11-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2446
更新日期:2010-03-01 00:00:00
abstract::Urine is a new medium for Down syndrome testing. In an effort to determine the best type of human chorionic gonadotropin (hCG)-related immunoassay for urine testing, we examined 14 Down syndrome and 91 unaffected pregnancy urine samples with 12 established assays. The assays included (a) those that detect hCG beta-cor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/(sici)1097-0223(199707)17:7<607::aid-pd118
更新日期:1997-07-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.126
更新日期:2001-07-01 00:00:00
abstract::Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its applicatio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2945
更新日期:2012-04-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4605
更新日期:2015-08-01 00:00:00
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journal_title:Prenatal diagnosis
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更新日期:2017-02-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200007)20:7<593::aid-pd876>3.0.c
更新日期:2000-07-01 00:00:00
abstract::This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120808
更新日期:1992-08-01 00:00:00