医学遗传中心遗传咨询门诊

产前诊断专科提供常见遗传病、染色体病、胎儿宫内感染等的检查、咨询、诊断等医疗服务。我中心1994年开展介入性产前诊断工作，穿刺成功率为99.9%。绒毛穿刺术术后流产率为0.1%，羊膜腔穿刺术术后流产率为0.05%，脐静脉穿刺术术后流产率为0.3%，远低于世界报道的1%的风险值。以2014年为例，中心全年完成675例绒毛取材术、5306例羊膜腔穿刺术、812例脐静脉穿刺术；进行了110例羊水置换术、63例胎儿腹水穿刺、15例减胎术。胎儿保健专科指导育龄夫妇进行优生优育的准备，特别是针对高龄和不良生育史的人群。指导孕期营养，指导在特定时间进行产前检查，制定个性化的妊娠监督。进行双胎、多胎孕妇孕期监测、预后评估并及时进行干预性治疗。可对多胎妊娠进行选择性的减胎术，对双胎之一异常、双胎输血综合征、sIUGR和Trap等复杂性双胎制定个性化的妊娠监督方案。地中海贫血咨询门诊提供地中海贫血知识的咨询、宣教、检查等医疗服务，对常见及罕见类型的地中海贫血进行诊断，指导优生优育。复发性流产专科我中心于2007年开展免疫治疗至今，对复发性流产的诊治积累了丰富的经验。每年进行治疗约3300人次，经治疗，封闭抗体转阳率达80～85%，治疗后妊娠成功率达60～70%。小儿遗传专科对智力低下、语言异常、听力异常、行为异常、代谢异常和发育迟缓的患者进行评估、原因查找和个性化治疗方案的设计，指导夫妇科学妊娠。OutpatientservicePrenataldiagnosisWeprovidecounseling,medicalexaminationsanddiagnosisforcommongeneticdiseases,chromosomedisordersandIntrauterineinfection.Wehaveappliedadvancedtechniqueandrichexperienceininvasiveprenataldiagnosis.In2012,weperformed675casesofChorionicVillusSampling,5306casesofamniocenteses,812umbilicalcordbloodsampling,110casesofamnioticfluidreplacement,63casesoffetalascitesparacentesis,and15casesofmultifetalpregnancyreduction.FetushealthcareWeprovidedprofessionalrecommendationtopeopleinchildbearingage,especiallytheadvancedmaternalagecoupleswithabnormalreproductivehistory.Weprovideclinicserviceandlaboratoryteststomonitorthesituationofmaternalandfetalhealth.Wewillprovidetreatmentifthepatientaremultiplepregnancy,twin-to-twintransfusionsyndrome,intrauterinegrowthretardationetc.ThalassemiaThalassemiahealtheducationandgeneticcounselingforcoupleswithchildbearingage,anddetectionforgenemutationsofThalassemia.RecurrentspontaneousabortionWehaveseveralexpertsonthediagnosisandtreatmentofrecurrentspontaneousabortion.Weprovideclinicalservicetoabout3,300patientseachyear,andabout70%ofpatientsgotsuccessfulpregnancyafterimmunotherapy.PediatricsgeneticsWeprovideassessment,counselingandpersonalizedtreatmentprogramsforChildrenwithmentalretardation,abnormallanguagedevelopment,hearingloss,abnormalbehavior,metabolicdisorder,and/ordevelopmentaldelay.