Clinical application of SNP haplotype analysis in the preimplantation genetic diagnosis (PGD) of monogenic diseases / 临床检验杂志

ABSTRACT

Objective@#To investigate the clinical application value of single nucleotide polymorphism (SNP) haplotype analysis in the preimplantation genetic diagnosis (PGD) of monogenic diseases. @*Methods@#The whole genome amplification products of biopsied trophectoderm cells were analyzed by SNP haplotype analysis and verified by Sanger sequencing. @*Results@#A total of 205 embryos were performed SNP haplotype analysis and Sanger sequencing. Among them, Sanger sequencing failed in 14.63% (30/205) of embryos, and SNP haplotype analysis failed in 0.98% (2/205) of embryos. The failure rate of the latter was significantly lower than that of the former (P＜0.05). There were consistent results in 155 (75.61%) embryos, and inconsistent results in 18 (8.78%) embryos. Forty-five embryos in 41 cycles were performed embryo transplantation. The clinical pregnancy rate was 70.73% (29/41) and the implantation rate was 71.11% (32/45). The results of prenatal diagnosis of amniotic fluid during the second trimester of pregnancy were completely consistent with those of SNP haplotype analysis. @*Conclusion@#SNP haplotype analysis is accurate, and its failure rate is lower than that of Sanger sequencing. It can be effectively used in the PGD of clinical monogenic diseases.