Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

2017 ◽  
Vol 19 (12) ◽  
pp. 1338-1345 ◽  
Author(s):  
Lisa Hui ◽  
Briohny Hutchinson ◽  
Alice Poulton ◽  
Jane Halliday
Keyword(s):  
Prenatal Screening ◽  
Diagnostic Testing ◽  
Population Based ◽  
Noninvasive Prenatal Screening ◽  
Fetal Aneuploidy

scholarly journals Complexity of noninvasive prenatal screening and diagnostic testing for an unbalanced translocation involving chromosomes 5 and 18

2013 ◽  
Vol 34 (2) ◽  
pp. 195-198 ◽  
Author(s):  
H. Feenstra ◽  
T. Dunn ◽  
D. Lewis ◽  
K. Herrera ◽  
J. Foroutan ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Diagnostic Testing ◽  
Unbalanced Translocation ◽  
Noninvasive Prenatal Screening

Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update

2017 ◽  
Vol 72 (1) ◽  
pp. 6-8 ◽  
Author(s):  
Anthony R. Gregg ◽  
Brian G. Skotko ◽  
Judith L. Benkendorf ◽  
Kristin G. Monaghan ◽  
Komal Bajaj ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Noninvasive Prenatal Screening ◽  
Fetal Aneuploidy

scholarly journals Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

2016 ◽  
Vol 18 (10) ◽  
pp. 1056-1065 ◽  
Author(s):  
Anthony R. Gregg ◽  
◽  
Brian G. Skotko ◽  
Judith L. Benkendorf ◽  
Kristin G. Monaghan ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Position Statement ◽  
Medical Genetics ◽  
Noninvasive Prenatal Screening ◽  
Fetal Aneuploidy ◽  
Genetics And Genomics

Women’s decisional conflict in the pathway of prenatal screening and testing: an explorative study within Finnish public maternity care

2020 ◽  
Vol 48 (6) ◽  
pp. 527-537
Author(s):  
An Chen ◽  
Henni Tenhunen ◽  
Paulus Torkki ◽  
Seppo Heinonen ◽  
Paul Lillrank ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Statistical Tests ◽  
Decisional Conflict ◽  
Population Based ◽  
Individual Counseling ◽  
Medical Settings ◽  
Fetal Aneuploidy ◽  
Explorative Study ◽  
Different Types ◽  
Linear Regressions

AbstractObjectivesTo explore women’s decisional conflict in the pathway of prenatal screening and testing (PreST) in Finland and to evaluate a counseling service.MethodsSelf-completion surveys were conducted at two medical settings (screening and further testing) of PreST. Decisional Conflict Scale (DCS) was the main measure. Different types of statistical tests were used to compare women’s decisional conflict at different medical settings of PreST, and before-after pre-test counseling. Multivariable linear regressions analyzed the influences of the medical settings and other factors on women’s decisional conflict.ResultsCompared to women in population-based screening, women in further testing (before pre-test counseling) were more likely to feel well informed (P < 0.001), had increased values clarity (P < 0.001), but more likely experienced uncertainty (P = 0.040). Besides medical settings, maternal age, gravidity and previous experience of fetal aneuploidy significantly influenced decisional conflict. After counseling, screen-positive women felt better informed (P < 0.001), had increased values clarity (P < 0.001), perceived more support (P < 0.001), and had better decision certainty (P < 0.001) than before counseling.ConclusionsMedical settings influence women’s decisional conflict during PreST. Individual counseling is effective in improving screen-positive women’s decisional conflict. This research adds knowledge and experience on developing decision-making supports across the pathway of PreST.

scholarly journals Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy

2019 ◽  
Author(s):  
Wei Li ◽  
Fanwei Zeng ◽  
Baitong Fan ◽  
Nan Yu ◽  
Jing Wu ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Large Population ◽  
False Negative ◽  
Population Based ◽  
Screening Tests ◽  
Ventricular Septal Defects ◽  
Noninvasive Prenatal Screening ◽  
Septal Defects ◽  
Us Findings ◽  
The Impact

PurposeTo evaluate the impact of ultrasonography (US) on identifying noninvasive prenatal screening (NIPS) false-negative aneuploidy.MethodsAnalysis of large population-based NIPS false-negative aneuploidy data comprising karyotypes, clinical outcomes, and US results.ResultsFrom December 2010 to July 2018, a total of 3,320,457 pregnancies were screened by NIPS performed in BGI; among them, 69 NIPS false-negative aneuploidy cases with informed consent were confirmed, and US examination data for 48 cases were not available. Of the 21 cases with US results, 19 (90.5%) had various abnormalities on ultrasound, and 2 (9.5%) cases were shown to be normal on ultrasound. Additionally, 6 out of 7 live born fetuses (approximately 85.7%) were found to have abnormalities on ultrasound. Ventricular septal defects constituted the most frequently observed ultrasound abnormality type among the 21 NIPS false-negative aneuploidy cases.ConclusionNIPS has expanded rapidly worldwide and now accounts for a large proportion of prenatal screening tests in China. This study suggests that abnormal US findings should not be neglected, even when NIPS produces a negative result. Combining NIPS with an US examination can further reduce the incidence of livebirths with aneuploidy.

scholarly journals Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing

2017 ◽  
Vol 63 (4) ◽  
pp. 861-869 ◽  
Author(s):  
Chenming Xu ◽  
Ting Wang ◽  
Chao Liu ◽  
Hong Li ◽  
Xiaoyan Chen ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Screening Procedure ◽  
Clinical Implementation ◽  
Parallel Sequencing ◽  
Noninvasive Prenatal Screening ◽  
Fetal Aneuploidy ◽  
Dependent Probe

Abstract BACKGROUND Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs. We used the high-throughput ligation-dependent probe amplification (HLPA) assay with standard z score statistics to identify the minute copy number change of targeted chromosomal regions. HLPA was modified from multiplex ligation-dependent probe amplification to allow quantification of up to 200 genomic loci in a single multiplex PCR. As a proof of principle, we conducted Down syndrome screening in 1182 women with singleton pregnancies [maternal age (SD): 32.7 (4.6)] using whole-genome sequencing-based NIPS and our method. RESULTS Nineteen fetuses with trisomy 21 were detected by both methods and confirmed by karyotyping of amniotic fluid. Overall, our method showed 100.0% sensitivity (19/19) and 99.7% specificity (1076/1079) in trisomy 21 screening, generating a positive predictive value of 86.4% (19/22) and a 7.1% (84/1182) no-call rate. CONCLUSIONS Our technique potentially opens new avenues for the development of inexpensive, yet effective, prenatal aneuploidy tests. The simplicity and accuracy of this method make it a good candidate for clinical implementation as a standard screening procedure.

Sign in / Sign up

Export Citation Format

Share Document