Here, we present the successful application of two different preimplantation genetic testing for monogenic diseases (PGT-M) methods for a couple facing the genetic risk of Achondroplasia (ACH). The first preimplantation genetic haplotyping (PGH) cycle was based on short tandem repeats (STRs) and 8 STRs were chosen. The multiple displacement amplification (MDA) products were analyzed using the informative STR loci and PCR-restriction enzyme digestion of FGFR3. A healthy girl was delivered. Two years later, we performed the second PGT-M cycle for this couple with a newly established PGT-M platform based on next generation sequencing (NGS). Haplotype analysis was established by a selection of several informative single nucleotide polymorphisms (SNPs). Preimplantation genetic testing for aneuploidy (PGT-A) was also performed on embryos with normal FGFR3 genotype. Another healthy girl was born. PGH system could be established using STRs or NGS-SNP systems. The NGS-SNP system could detect more sites and simultaneously performs PGT-A with an automated operation.

中文翻译：

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通过两种单体型系统对软骨发育不全的植入前遗传学测试：短串联重复序列和单核苷酸多态性

在这里，我们介绍了两种不同的植入前基因测试对一对夫妇面临软骨发育不全（ACH）遗传风险的单基因疾病（PGT-M）方法的成功应用。植入前的第一个遗传单倍型（PGH）周期是基于短串联重复序列（STR）的，选择了8个STR。使用信息丰富的STR基因座和FGFR3的PCR限制酶消化分析了多位移扩增（MDA）产物。一个健康的女孩已分娩。两年后，我们使用基于下一代测序（NGS）的新建立的PGT-M平台，为这对夫妇执行了第二个PGT-M循环。通过选择几种信息丰富的单核苷酸多态性（SNP）建立单倍型分析。还对具有正常FGFR3基因型的胚胎进行了非整倍性的植入前基因测试（PGT-A）。另一个健康的女孩出生了。可以使用STR或NGS-SNP系统建立PGH系统。NGS-SNP系统可以检测更多站点，并通过自动化操作同时执行PGT-A。