Preimplantation genetic testing as a component of root cause analysis of errors and reassignment of embryos in IVF

Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples

“…The current methods and quality control protocols in clinical laboratories fall short of fully tracking samples throughout the testing process [ 29 ]. Although the establishment of medical testing centers and adoption of new equipment have been effective in reducing the number of manual errors, challenges persist, particularly in the pretest phase [ 15 , 30 ]. For example, in the case of WES samples obtained from prenatal fetal sources (such as villi, amniotic fluid, and umbilical cord blood) or from miscarriage tissues, it is only after processing the sequencing data that one can determine whether the sample is singular or mixed.…”

“…Despite the application of fully automated equipment and information systems, that streamline manual operations, the potential for technical error persists. Addressing issues such as sample exchange, contamination, and label loss or damage remains a challenge [ 15 ]. Even when quality control materials involve exogenous DNA sequences, they only allow quality control during the post-DNA extraction detection steps [ 31 ].…”

“…Although molecular diagnostic technologies and relevant quality management are constantly improving, there is a lack of standardized methods for personal identification of WES samples. The implementation of fully automated instrumentation and information systems, although beneficial, does not entirely resolve challenges such as sample mix-ups, contamination, and the loss or deterioration of sample labels [ 15 ]. Therefore, clinical laboratories opting for genetic methods to establish personal identification, paternity tests, and sample tracking should consider independent testing methods, although creating an effective personal identification system that is practical and efficient is challenging [ 16 ].…”