Screen-positive rate in cell-free DNA screening for microdeletion 22q11.2.

Autor: Lüthgens K; Cenata GmbH, Tuebingen, Germany., Sinzel M; Cenata GmbH, Tuebingen, Germany., Kolar M; Cenata GmbH, Tuebingen, Germany., Kagan KO; Department of Women's Health, University Women's Hospital, Tuebingen, Germany.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2023 Mar; Vol. 43 (3), pp. 288-293. Date of Electronic Publication: 2023 Feb 07.
DOI: 10.1002/pd.6328
Abstrakt: Objective: To examine the impact of the fetal fraction (FF) on the screen-positive rate in screening for microdeletion 22q11.2.
Methods: This study is based on samples that were analyzed using the Harmony® Prenatal Test (Roche Inc). The study cohort comprised samples from women with singleton pregnancies who were at least 16 years old and at least at 11 weeks' gestation. Logistic regression analysis was used to determine significant covariates that carry an impact on the screen-positive rate.
Results: The study population consisted of 52,019 pregnancies, including 309 pregnancies with a high-risk result for microdeletion 22q11.2. Thus, the overall screen-positive rate was 0.59%. In the low-risk group, the FF was 10.1%, and in the high-risk group, it was 7.3%. Regression analysis indicated a strong correlation between the FF and the screen-positive rate. In the cases with an FF of <11.0%, the screen-positive rate was 0.92%, while it was 0.13% in the group with a higher FF.
Conclusion: The screen-positive rate depends on the FF. In order to keep the rate low, we recommend restricting the analysis to samples with a FF of 11% and more.
(© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz: