How is chromosomal mosaicism diagnosed?
Chromosomal mosaicism can be diagnosed in three ways: • during prenatal diagnosis • in an individual’s blood sample or skin biopsy • during preimplantation diagnosis We have organized this section by timing of the diagnosis, which sometimes gives a clue as to how the mosaicism may impact the health of the affected individual. Most of the concerns with chromosomal mosaicism arise when it is identified at prenatal diagnosis. Thus, most comments in this section relate to diagnosis of chromosomal mosaicism either prenatally or in early life.
