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

Koczok, Katalin and Gombos, Éva and Madar, László and Török, Olga and Balogh, István (2018) Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing. PRENATAL DIAGNOSIS, 38 (9). pp. 713-719. ISSN 0197-3851

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Abstract

Objective: Fetal samples obtained by invasive techniques are prone to maternal cellcontamination (MCC), which may lead to false genotyping results. Our aim was todetermine 3 molecular genetic tests' sensitivity to MCC.Method: By mixing experiments, 1%, 5%, 10%, 20%, 30%, and 40% MCC was simulated,and significant MCC levels were determined for Sanger DNA sequencing, multiplexligation?dependent probe amplification (MLPA), and pyrosequencing, a nextgenerationsequencing method.Results: For Sanger sequencing, the limit of sensitivity to MCC was 5% to 30%. ForMLPA, a higher proportion of MCC (?40%) was shown to lead to diagnostic uncertainty.In contrast, pyrosequencing proved to be very sensitive to MCC, detecting aproportion as low as 1%.Conclusion: In the case of Sanger sequencing, sensitivity to MCC was variable,while for MLPA, only high levels of MCC proved to be significant. Although thenext?generation sequencing method was sensitive to low?level MCC, if MCC level isdetermined in parallel, accurate quantification of allelic ratios can help to interpretthe diagnostic results. Knowledge of significant MCC levels allows correct prenataldiagnosis even if samples are not purely of fetal origin and repeated sampling canbe avoided in many of the cases.

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