Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing

Koczok, Katalin; Gombos, Eva C.; Madar, László; Török, Olga; Balogh, István

doi:10.1002/pd.5319

Cited by 3 publications

(1 citation statement)

References 24 publications

(55 reference statements)

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“…Prenatal samples are derived from the maternal body, and maternal cell contamination may greatly affect the accuracy of prenatal diagnosis 22 . Therefore, prenatal samples, including chorionic villus, amniotic fluid, and umbilical cord blood, are available for prenatal diagnosis after exclusion of maternal cell contamination 23 . In this study, STR analysis of the 700 prenatal samples showed no maternal cell contamination, and these prenatal samples were qualified for the subsequent analyses.…”

Section: Discussionmentioning

confidence: 91%

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

Huang

Chen

et al. 2021

Clinical Laboratory Analysis

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Section: Discussionmentioning

confidence: 91%

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

Huang

Chen

et al. 2021

Clinical Laboratory Analysis

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

Smeekens,

Leferink,

Yntema

et al. 2024

Prenatal Diagnosis

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ObjectiveMaternal 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.MethodWe 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).ResultsMCC 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.ConclusionsOverall, 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.

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Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data

Smeekens,

Timmermans,

Westra

et al. 2024

Clinical Chemistry

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Background Maternal cell contamination (MCC) in prenatal samples poses a risk for misdiagnosis, and therefore, testing for contamination is necessary during genetic analysis of prenatal specimens. MCC testing is currently performed as a method separate from the diagnostic method. With the increasing application of whole exome sequencing (WES) in prenatal diagnosis, we sought to develop a method to estimate the level of contamination from WES data, aiming to eliminate the need for a separate MCC test. Methods To investigate the impact of MCC on the distribution of the variant allele fraction in WES data, contamination was both simulated in silico and artificially induced. Subsequently, a bioinformatic WES contamination method was developed and validated by comparing its performance to that of the gold standard (short tandem repeat [STR]) MCC test, validated for detecting ≥5% contamination. Finally, post-implementation performance was monitored for a 15-month period. Results During validation, 270 prenatal samples underwent analysis with both WES and the gold standard test. In 259 samples, the results were concordant (248 not contaminated, 11 contaminated with both tests). In 11 samples, contamination was only detected in WES data (2 of which contained ≥5% contamination with WES, which is above the detection limit of the gold standard test). The data of the post-implementation evaluation on 361 samples, of which 68 were contaminated, were in line with the validation data. Conclusions Contamination can reliably be detected in WES data, rendering a separate contamination test unnecessary for the majority of samples.

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Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing

Cited by 3 publications

References 24 publications

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

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

Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data

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