Complex Aneuploidy in Embryos

Mechanisms and Detection

Confined placental mosaicism can occur, where trophectoderm cells differ chromosomally from the inner cell mass, according to the American College of Medical Genetics and Genomics 1, 2
Single trophectoderm biopsy may not accurately represent the entire embryo due to mosaicism, as stated by the American College of Medical Genetics and Genomics 1
Embryo biopsy technique itself can introduce artifacts through cell injury, sampling errors, or DNA amplification issues, as noted by the American College of Medical Genetics and Genomics 1
Mitotic mosaicism means different cells within the same embryo may have different chromosomal compositions, according to the American College of Medical Genetics and Genomics 1

Triploidy is specifically associated with failed cell-free DNA screening tests, as reported by the American College of Obstetricians and Gynecologists 3, 4
Vanishing twin or cotwin demise can contribute to complex chromosomal findings, as deceased twins are frequently aneuploid, according to the American College of Obstetricians and Gynecologists 3, 5