This article reports a successful case of preimplantation genetic testing (PGT) in a patient with autosomal dominant polycystic kidney disease type 2 (PKD2) combined with Robertsonian translocation. The patient carried a heterozygous frameshift mutation ( PKD2 c.428del, p.Gly143Alafs*90) and a Robertsonian translocation between chromosomes 14 and 15. Through combined PGT for monogenic disorders, structural rearrangements and aneuploidy screening, one euploid blastocyst free of the PKD2 mutation was selected from six embryos for transfer, resulting in the successful delivery of a healthy female infant. Follow-up until June 2025 confirmed normal developmental milestones. This case demonstrates that PGT can effectively mitigate dual genetic risks (monogenic disease and chromosomal abnormality), providing critical clinical insights for optimizing reproductive outcomes in patients with complex genetic backgrounds.

This article reports a successful case of preimplantation genetic testing (PGT) in a patient with autosomal dominant polycystic kidney disease type 2 (PKD2) combined with Robertsonian translocation. The patient carried a heterozygous frameshift mutation ( PKD2 c.428del, p.Gly143Alafs*90) and a Robertsonian translocation between chromosomes 14 and 15. Through combined PGT for monogenic disorders, structural rearrangements and aneuploidy screening, one euploid blastocyst free of the PKD2 mutation was selected from six embryos for transfer, resulting in the successful delivery of a healthy female infant. Follow-up until June 2025 confirmed normal developmental milestones. This case demonstrates that PGT can effectively mitigate dual genetic risks (monogenic disease and chromosomal abnormality), providing critical clinical insights for optimizing reproductive outcomes in patients with complex genetic backgrounds.

Objective To investigate the protective effect of human amniotic mesenchymal stem cells(hAMSCs)on pulmonary microvascular endothelial cell(PMVECs)through observing the effects of prolifer-ation,apoptosis and inflammatory response after PMVECs injury induced by pine sawdust smoke solution.Methods HAMSCs and rat PMVECs were isolated and cultured.The flow cytometry and immunofluores-cence were used to identify hAMSCs and PMVECs respectively.The experimental grouping:control group(normal cultured PMVECs),smoke group(PMVECs injury induced by pine sawdust smoke solution),smoke+hAMSCs group(after PMVECs was injured by smoke solution,hAMSCs and PMVECs were co-cul-tured in Transwell culture system).The proliferative activity of PMVECs after co-culture for 12,24 h was measured by cell counting kit-8(CCK-8),the apoptosis of PMVECs was measured by flow cytometry,and the ex-pression levels of TNF-α and IL-6 were detected by enzyme-linked immunosorbent assay(ELISA).Results hAMSCs and PMVECs were successfully isolated and cultured,and the hAMSCs surface markers CD105(95.4％),CD73(99.8％)and CD90(99.8％)were identified as strongly positive expression,while CD34,CD45,CD14,CD19 and HLA-DR were weakly expressed(1.96％in total).The vascular endothelial cell mark-er CD34 in PMVECs was positively expressed,moreover its combination with aggulutinin BSI was also posi-tive.At the observation time point of 12,24 h co-culture,compared with the Control group,the proliferation activity of PMVECs in the Smoke group was inhibited(P＜0.05),and the cellular apoptosis was increased(P＜0.05),the TNF-α and IL-6 expression levels were up-regulated(P＜0.05);the phenomena of PMVECs proliferation activity inhibition,apoptosis increase and inflammatory factor expression level up-regulation in the Smoke+hAMSCs group were reversed compared with the Smoke group(P＜0.05).Conclusion After PMVECs are injured by smoke solution,hAMSCs could decrease the PMVECs inflammatory factors expres-sion,promote its proliferation activity and inhibit its apoptosis,thus play the protective effect on PMVECs.