Approximately 1 in 3 couples who experience two or more miscarriages will have one or both of the couple with a balanced chromosomal translocation. People with balanced chromosomal translocation usually appear healthy and are unaware they carry a translocation. A balanced chromosomal translocation occurs when either a. 2 segments of different chromosomes break off and swap places (Reciprocal Translocations), b. two chromosomes join (Robertsonian Translocations), or c. when a segment of a chromosome is flipped upside down (Inversions).
NGS is performed to analyze for a balanced set of all 23 pairs of chromosomes. Then a balanced embryo can be transferred.
This latest technology is used where couples want to check balanced embryos for carrier or non-carrier of the translocation, and only transfer non-carriers if available.