A study by the Bernabeu Institute analyses the interferences that may influence the embryonic mosaicism diagnosis

Research at Instituto Bernabeu has analysed the influence that technical interferences may have when analysing the embryo in the mosaicism diagnosis. A mosaic embryo is one in which a mixture of chromosomally normal and abnormal cells for one or more chromosomes can be seen.

This work presented at the ASEBIR 2021 congress shows that the diagnosis of chromosomal mosaicism in trophectoderm biopsies is not always produced by biological factors of the embryo itself, but can also lead to an incorrect diagnosis due to technical factors: poor quality of the sample or problems in DNA amplification.

To develop this research, the results of the chromosomal analysis of more than 4,700 embryos have been studied. Instituto Bernabeu points out the importance of optimising all the procedures of the technique (biopsy, sample conservation and DNA amplification) in order to reduce these false mosaics.

Relationship between noise (DLR-Derivative Log Ratio) in PGT-A NGS results with the diagnosis of chromosomal mosaicism in trophectoderm biopsies.

R. Morales, B. Lledó, JA. Ortiz, A. Cascales, J. Ten, A. Bernabeu, J. Ll. Aparicio, R. Bernabeu