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Timing of diagnosis of fetal structural abnormalities after the introduction of universal cell-free DNA in the absence of first-trimester anatomical screening.
- Source :
-
Prenatal diagnosis [Prenat Diagn] 2022 Sep; Vol. 42 (10), pp. 1242-1252. Date of Electronic Publication: 2022 Sep 03. - Publication Year :
- 2022
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Abstract
- Introduction: Since 2021, first-trimester anatomical screening (FTAS) is offered in the Netherlands alongside genome-wide cell-free DNA (cfDNA). Previously, only second-trimester anatomical screening (STAS) was offered. This study identifies structural abnormalities amenable to first-trimester diagnosis detected at/after STAS in the period following cfDNA implementation and preceding FTAS introduction.<br />Methods: This retrospective cohort includes 547 fetuses referred between 2017 and 2020 because of suspected structural abnormalities before/at/after STAS. Additional prenatal investigations and postnatal follow-up were searched. Abnormalities were classified into "always", "sometimes", and "never" detectable in the first-trimester based on a previously suggested classification.<br />Results: Of the 547 pregnancies, 13 (2.6%) received FTAS and 534 (97.6%) received a dating ultrasound and STAS. In 492/534 (92.1%) anomalies were confirmed; 66 (13.4%) belonged to the "always detectable" group in the first trimester, 303 (61.6%) to the "sometimes detectable", and 123 (25.0%) to the never detectable. Of the "always detectable" anomalies 29/66 (44%) were diagnosed during dating ultrasounds and 37 (56%) during STAS. The rate of termination of pregnancy for anomalies detected during FTAS and at/after STAS was 84.6% (n = 11/13) and 29.3% (n = 144/492) (p < 0.01).<br />Conclusion: When FTAS is not part of screening paradigms, most fetal anomalies remain undetected until the second trimester or later in pregnancy, including 56% of anomalies "always detectable" in the first trimester.<br /> (© 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 1097-0223
- Volume :
- 42
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Prenatal diagnosis
- Publication Type :
- Academic Journal
- Accession number :
- 35971853
- Full Text :
- https://doi.org/10.1002/pd.6224