Preimplantation genetic diagnosis for achondroplasia by two haplotyping system: short tandem repeats (STRs) and single nucleotide polymorphism (SNP)

Introduction: Achondroplasia (ACH) is the most common genetic form of dwarfism. Most cases occur spontaneously, and these heterozygous individuals may pass the condition on to their offspring as an autosomal dominant trait. In order to reduce the misdiagnosis caused by allelic drop out (ADO) and contamination, a number of haplotyping methods including short tandem repeats (STRs)-based linkage analysis, SNP markers- based Karyomapping and next generation sequencing (NGS) have been successfully applied to improve the accuracy of PGD. We used two different haplotype methods to establish reliable and accurate preimplantation genetic diagnosis methods for the prevention of birth defects in a family with ACH.