Impact of cell-free fetal DNA on invasive prenatal diagnostic tests in a real-world public setting
-
Ignacio Herraiz
,
Ana Villalba
Abstract
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.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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©2019 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Editorial
- Preterm premature rupture of membranes (PPROM)
- Original Articles – Obstetrics
- The value of amniotic fluid analysis in patients with suspected clinical chorioamnionitis
- Patients with acute cervical insufficiency without intra-amniotic infection/inflammation treated with cerclage have a good prognosis
- Maternal serum endocan concentrations are elevated in patients with preterm premature rupture of membranes
- The earlier the gestational age, the greater the intensity of the intra-amniotic inflammatory response in women with preterm premature rupture of membranes and amniotic fluid infection by Ureaplasma species
- Assessment of maternal GBS colonization and early-onset neonatal disease rate for term deliveries: a decade perspective
- Clinical importance of the 75-g glucose tolerance test (GTT) in the prediction of large for gestational age (LGA) fetuses in non-diabetic pregnancies
- Expression of genes involved in inflammation and growth – does sampling site in human full-term placenta matter?
- Impact of cell-free fetal DNA on invasive prenatal diagnostic tests in a real-world public setting
- Perinatal outcome in gestational diabetes according to different diagnostic criteria
- Original Articles – Fetus
- Change in fetal behavior in response to vibroacoustic stimulation
- Diagnostic accuracy of isolated clubfoot in twin compared to singleton gestations
- Original Article – Newborn
- Usefulness of transcutaneous bilirubin assessment measured in non-photo-exposed skin to guide the length of phototherapy: an observational study
- Letters to the Editor
- Methodological issues on the clinical importance of the 75-g glucose tolerance test (GTT) in the prediction of large for gestational age (LGA) fetuses in non-diabetic pregnancies
- Reply to the Letter to the Editor: methodological issues on the clinical importance of the 75-g glucose tolerance test (GTT) in the prediction of large-for-gestational-age (LGA) fetuses in non-diabetic pregnancies
