Clinical investigation to compare aCGH and FISH in preimplantationgenetic diagnosis of chromosome translocation carriers

Abstract

To investigate the clinical use of array comparative genomic hybridization (aCGH) with fluorescence in situ hybridization (FISH) in preimplantion genetic diagnosis (PGD) for reciprocal and Robertsonian translocation carriers. From Jan. 2012 to Jun. 2013, a total of 220 PGD cycles from 151 reciprocal translocation and 62 Robertsonian translocation carrier couples, including 33 cycles for reciprocal translocation carriers and 22 cycles for Robertsonian translocation carriers performed using array CGH, and 119 cycles for reciprocal translocation carriers and 46 cycles for Robertsonian translocation carriers performed using FISH were retrospectively studied. The rate of accurate diagnosis was compared between two methods. Normal and/or balance rates of the two translocated chromosomes detected by aCGH for both reciprocal and Robertsonian translocation carriers were 38.20% (123/322) and 67.20% (127/189), significantly higher than 15.39% (195/1 267) and 30.75% (202/657) by FISH (all P < 0.05). Abnormal rates of the two translocated chromosomes detected by aCGH for both reciprocal and Robertsonian translocation carriers were 59.32% (191/322) and 30.69% (58/189), significantly lower than 83.03% (1 052/1 267) and 67.43% (443/657) by FISH (all P < 0.05). And the rate of aneu ploidy in non-translocated chromosome from reciprocal translocation embryos was 20.19% (65/322), which was significantly lower than 38.62% (13/189) from Robertsonian translocation embryos (P < 0.01). Normal and/or balance rates of the two translocated chromosomes detected by array CGH were significantly higher than FISH. And the rate of aneuploidy in non-translocated chromosomes from reciprocal translocation embryos was significantly lower than that from Robertsonian translocation embryos.