目的 总结Norrie病家系合并女方为未分化结缔组织病及血栓患者通过胚胎植入前单基因遗传学检测(preimplantation genetic testing for monogenic,PGT-M)助孕临床诊疗经验.方法 报道通过生殖遗传、生殖医学、眼科、风湿内科及产科多学科诊疗,对1例NDP基因第2外显子杂合缺失合并未分化结缔组织病及血栓病的患者进行家系构建、促排取卵、胚胎检测、冻融胚胎移植、羊膜腔穿刺、孕期及围产期监测的临床经过.结果 该患者成功妊娠并足月分娩1名健康女婴.结论 通过对该夫妇进行多学科诊疗管理,1个周期的PGT-M助孕使患者顺利获得健康的后代,减轻患者的心理和生理负担.
A case of assisted pregnancy by PGT-M in a patient carrying NDP gene mutation combined with undifferentiated connective tissue disease and thrombosis
Objective To summarize the experience of assisted pregnancy through preimplantation genetic testing for monogenic diseases(PGT-M)in a Norrie disease family where the female has undifferentiated connective tissue disease and thrombosis.Methods This article mainly reported the clinical process for a patient with a heterozygous deletion in exon 2 of the NDP gene combined with undifferentiated connective tissue disease and thrombosis,which was conducted through a multidisciplinary diagnostic and therapeutic process involving reproductive genetics,reproductive medicine,ophthalmology,rheumatology,and obstetrics.The stages of treatment included family pedigree construction,controlled ovarian hyperstimulation,embryo testing,frozen-thawed embryo transfer,amniocentesis,as well as antenatal and perinatal monitoring.Results The patient successfully conceived and gave birth to a healthy baby girl at full term.Conclusion Through multidisciplinary management,we successfully helped the couple achieve a healthy offspring with one PGT-M cycle,thus relieved their psychological and physiological burden.
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