摘要目的 探讨单基因病产前诊断方式的变化趋势及多学科合作模式在其中的作用.方法 北京大学第一医院于2012年1月1日建立了单基因病产前诊断多学科合作模式,涵盖了儿科、神经内科、皮肤科、妇产科及中心实验室等多个学科.所有以“单基因病家族史”而要求产前诊断的孕妇,先证者均在相关科室明确分子诊断,再次妊娠时转诊至产科进行产前诊断及妊娠期管理与随访.该模式自建立以来至2014年12月31日,在6 681例产前诊断病例中,以“单基因病家族史”为指征者共279例,其中76例于妊娠11～14周行绒毛活检术,203例于妊娠16～22周行羊膜腔穿刺术进行产前诊断.采用x2检验分析以“单基因病家族史”作为产前诊断指征的变化趋势及绒毛活检术的安全性. 结果 6 355例选择羊膜腔穿刺术进行产前诊断的孕妇中,以“单基因病家族史”为指征者共203例,占3.2％(203/6 355).在2012(2.3％,47/2 054)、2013(3.9％,78/2 023)和2014年度(3.4％,78/2 278)保持平稳,2014年度与2013年度差异无统计学意义(x2=0.571,P=0.463).326例选择绒毛活检术进行产前诊断的孕妇中,以“单基因病家族史”为指征者共76例,占23.3％ (76/326),其中2012年度以“单基因病家族史”为指征者占18.2％(8/44),201 3年度占17.6％(19/108),到2014年度上升至28.2％(49/174),明显高于2013年度(x2=4.067,P=0.046).在2012、2013和2014年度,“单基因病家族史”在绒毛活检术产前诊断指征中的构成比均高于行羊膜腔穿刺术孕妇(x2值分别为42.626、44.531和201.400,P值均为0.000).279例以“单基因病家族史”为产前诊断指征孕妇中,1例孕妇于绒毛活检术后6个月发生不明原因胎死宫内,余均未出现近、远期并发症和不良妊娠结局;但其中检出3例胎儿细胞核型异常,1例18 三体和2例45,X单体嵌合46,XY,其中1例45,X单体嵌合46,XY胎儿妊娠16～22周羊水细胞核型分析证实核型正常. 结论 单基因病是产前诊断的重要指征之一,通过妊娠早期绒毛活检能够尽早得到产前诊断结果.多学科合作模式有助于单基因病的产前诊断.

abstractsObjective To evaluate the trend in prenatal diagnosis of single gene disorders (SGD) and role ofmultidisciplinary cooperative mode.Methods In January l,2012,amultidisciplinarycooperativemode for SGD diagnosis was established in the Peking University First Hospital,involving Departments of Obstetrics,Pediatrics,Neurology,Dermatology and Central Laboratory.For each pregnant woman with a family history of SGD for prenatal diagnosis,propositus should be diagnosed in the relevant departments,and then further diagnosed,managed and followed up by the Obstetrics Department.Up to December 31,2014,of 6 681 women for prenatal diagnosis,279 women had a family history of SGD:76 of them received chorionic villus sampling (CVS) at 11-14 gestational weeks,and 203 received amniocentesis (AC) at 16-22 gestational weeks.The trend in SGD diagnosis and the safety of CVS and AC were analyzed using Chi-square test.Results The proportion of SGD family history in AC group was 3.2％ (203/6 355),which stayed stable with 2.3％ (47/2 054) in 2012,3.9％ (78/2 023) in 2013 and 3.4％ (78/2 278) in 2014,and there was no significant difference between 2013 and 2014 (x2=0.571,P=0.463).In CVS group,the proportion of SGD family history was 23.3％ (76/326),showing an increasing trend with 18.2％ (8/44) in 2012,17.6％ (19/108) in 2013 and 28.2％ (49/174) in 2014,and there were significant differences between 2013 and 2014 (x2=4.067,P=0.046).The proportion of SGD family history in CVS group was higher than in AC group in year 2012,2013 and 2014 (x2＝42.626,44.531 and 201.400,all P=0.000).Among the 279 cases of SGD family history,no complications and adverse outcome were observed except an intra-uterine fetal death occurring 6 months after CVS in one woman,but 3 fetuses were found to have chromosome anomalies with one trisomy 18,one 45,X,and one mosaicism of 45,X/46,XY which was determined to be normal by AC.Conclusions SGD family history is one of the important indicators in prenatal diagnosis,and CVS is feasible for prenatal diagnosis of SGD family history as early as in the first trimester.Multidisciplinary cooperative mode is helpful in SGD family history diagnosis.