Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.

Autor: Smeekens SP; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Leferink M; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2024 Oct; Vol. 44 (11), pp. 1304-1309. Date of Electronic Publication: 2024 May 23.
DOI: 10.1002/pd.6595
Abstrakt: Objective: Maternal cell contamination (MCC) poses a risk for misdiagnosis in prenatal genetic testing, and is examined in accredited diagnostic laboratories However, the awareness of possible MCC in perinatal/postnatal genetic testing, mainly of umbilical cord blood (CB), is lower.
Method: We investigated the rate of MCC in DNA from both umbilical CB samples and umbilical cord samples that were sent to our diagnostic laboratory for diagnostic testing between 1995 and 2021 (n = 236).
Results: MCC was detected in 4% of umbilical CB samples, and in one umbilical cord sample. Particularly tests enriching for a specific variant are very sensitive for low amounts of MCC, as we emphasize here with a false positive diagnosis of myotonic dystrophy type 1 in a newborn.
Conclusions: Overall, with appropriate collection and use, umbilical CB and umbilical cord samples are suitable for genetic testing based on the low rates of MCC and misdiagnosis. These findings do however underline the importance of routine MCC testing in umbilical CB samples and umbilical cord samples for both requesting clinicians and diagnostic genetic laboratories.
(© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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