Impact of cell-free fetal DNA on invasive prenatal diagnostic tests in a real-world public setting.
aneuploidy screening
cell-free fetal DNA
invasive test
non-invasive prenatal testing
Journal
Journal of perinatal medicine
ISSN: 1619-3997
Titre abrégé: J Perinat Med
Pays: Germany
ID NLM: 0361031
Informations de publication
Date de publication:
26 Jul 2019
26 Jul 2019
Historique:
received:
10
12
2018
accepted:
31
01
2019
pubmed:
9
3
2019
medline:
17
1
2020
entrez:
9
3
2019
Statut:
ppublish
Résumé
Objective To evaluate the impact of cell-free fetal DNA (cfDNA) test on the number of invasive tests carried out in a public hospital that does not include this test in its services. Methods This was a retrospective cohort study in singleton pregnancies with a high risk (>1:270) on the first-trimester screening for aneuploidies. The options of performing an invasive test or a cfDNA test were explained to all women, the latter being especially recommended to those with a 1:50-1:270 risk (Group 1). If the risk was >1:50 (Group 2), or nuchal translucency (NT) was >99th percentile or there were major malformations (Group 3), invasive test was recommended. Results A total of 755 of 14,398 (5.2%) cases had a high-risk first-trimester screening, of whom 46 cases were excluded due to incomplete follow-up. In the remaining 709 cases, the percentage of aneuploidies was 9.9% (70 cases) and 110 opted for a cfDNA test (15.5%). There were two true-positive results of cfDNA (one in Group 2 and another in Group 3). In Group 1, 67.4% [95% confidence interval (CI) 60.0%-72.1%, P < 0.01] fewer invasive procedures were performed in those who opted for a cfDNA test, without having false negatives. Conclusion Pregnant women with a 1:50-1:270 risk who opt for cfDNA save two out of three invasive tests, without affecting the aneuploidy detection rate.
Identifiants
pubmed: 30849049
doi: 10.1515/jpm-2018-0410
pii: jpm-2018-0410
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
547-552Références
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