产前多学科会诊模式优化对结构畸形胎儿结局的影响

Effects of prenatal multidisciplinary consultation on outcomes of fetuses with structural anomalies

目的探讨产前多学科会诊模式优化对结构畸形胎儿结局的影响。方法回顾性分析2004年1月至2019年12月复旦大学附属妇产科医院和复旦大学附属儿科医院联合开展的产前多学科会诊中心接诊的孕妇的临床资料。2014年,本中心优化了多学科会诊模式。在更加精准的影像学诊断基础上,强调了个体化的遗传学检测方案,以及产科与儿科团队更深入的合作。采用χ^(2)检验比较会诊模式改进后(优化后组)和前10年(优化前组)病例数、病种结构、遗传学检测情况、转归及预后等的差异。结果(1)纳入研究的孕妇共5977例,其中优化前组3424例,优化后组2553例。参加会诊孕妇以胎儿因素为主要会诊指征[97.2%(5812/5977)],其中77.5%(4503/5812)为胎儿先天性结构畸形。2组先天性结构畸形的系统分布差异有统计学意义(χ^(2)=141.31,P<0.001),但中枢神经系统、心血管系统和泌尿系统畸形在2组中的占比均排在前3位。(2)优化后组遗传学检查率高于优化前组[26.7%(682/2553)与15.9%(546/3424),χ^(2)=103.87,P<0.001],遗传学检测阳性率也高于优化前组[19.9%(136/682)与9.9%(54/546),χ^(2)=23.42,P<0.001]。(3)5977例孕妇中,418例(7.0%)失访,1741例(29.1%)选择主动引产,123例(2.2%)胎儿宫内死亡,3695例(61.8%)活产。优化后组主动引产率低于优化前组[27.7%(707/2553)与30.2%(1034/3424),χ^(2)=4.45,P=0.035]。(4)1741例主动引产病例以致死性的严重心血管系统畸形(413例,23.7%)、中枢神经系统畸形(377例,21.7%)、多发畸形(258例,14.8%)和染色体异常(162例,9.3%)为主。主动引产率最高的前5种疾病为唇腭裂[59.0%(46/78)]、脑膜膨出(5/9)、腹裂/脐膨出[49.3%(33/67)]、膈疝[46.5%(33/71)]和骨骼畸形[40.9%(83/203)]。优化后组腹裂/脐膨出、膈疝和骨骼畸形的主动引产率低于优化前组[分别为57.4%(27/47)与30.0%(6/20),χ^(2)=4.23;59.0%(23/39)与31.3%(10/32),χ^(2)=5.43;51.8%(72/139)与17.2%(11/64),χ^(2)=21.72;P值均<0.05]。(5)3695例活产婴儿中,1979例(53.6%)为剖宫产,1716例(46.4%)经阴道分娩;3633例(98.3%)存活,62例(1.7%)在新生儿期死亡。优化后组新生儿存活率高于优化前组[98.8%(1648/1668)与97.9%(1985/2027),χ^(2)=4.23,P=0.040]。死亡的62例新生儿中,51例(82.3%)为致死性结构畸形或染色体异常。(6)存活的新生儿中,372例(10.2%)生后复查病变消失,468例(12.9%)在新生儿期接受手术治疗。其余2793例患儿未在新生儿期干预,定期门诊随访。结论优化的产前多学科会诊模式有效降低了非致死性单一结构畸形患儿的主动引产率,提高了新生儿存活率。

Objective To investigate the effects of improving the prenatal multidisciplinary consultation mode on the outcomes of fetuses with structural malformations.Methods Clinical data of pregnant women attending the Prenatal Multidisciplinary Consultation Center,jointly established by the Obstetrics&Gynecology Hospital of Fudan University and the Children's Hospital of Fudan University from January 2004 to December 2019,were retrospectively collected and analyzed.In 2014,the center optimized the multidisciplinary consultation mode to achieve a more individualized approach to genetic testing based on more accurate imaging diagnosis and deeper cooperation between the obstetrics and pediatrics teams.Differences in the number of cases,structure of the diseases,genetic testing results,outcomes,and prognosis between the improved group(enrolled from January 2014 to December 2019)and the baseline group(enrolled from January 2004 to December 2013)were compared.The Chi-square test was used for statistical analysis.Results(1)This study recruited 5977 pregnant women,including 3424 in the baseline group and 2553 in the improved group.The main indications for consultation were fetal factors[97.2%(5812/5977)],among which congenital structural malformations accounted for 77.5%(4503/5812).There was a significant difference in the systematic distribution of congenital structural malformations between the two groups(χ^(2)=141.31,P<0.001).The proportion of malformations involving the central nervous,cardiovascular,and urinary systems ranked in the top three in both groups.(2)The percentage of women receiving genetic testing was higher in the improved group than in the baseline group[26.7%(682/2553)vs.15.9%(546/3424),χ^(2)=103.87,P<0.001]and the positive rate of genetic testing was also higher in the improved group[19.9%(136/682)vs.9.9%(54/546).χ^(2)=23.42,P<0.001].(3)Among the 5977 cases,418(7.0%)were lost to follow-up;1741(29.1%)opted for pregnancy termination;123(2.2%)had intrauterine fetal death;and 3695(61.8%)were live births.The rate of pregnancy termination in the improved group was lower than that of the baseline group[27.7%(707/2553)vs.30.2%(1034/3424),χ^(2)=4.45,P=0.035].(4)In the 1741 cases with pregnancy termination,fatal cardiovascular system malformations(n=413,23.7%),central nervous system malformations(n=377,21.7%),multiple malformations(n=258,14.8%),and chromosomal abnormalities(n=162,9.3%)were the main causes.The top five diseases leading to pregnancy termination were cleft lip and palate[59.0%(46/78)],meningocele(5/9),gastroschisis/omphalocele[49.3%(33/67)],diaphragmatic hernia[46.5%(33/71)],and skeletal malformations[40.9%(83/203)].The rates of pregnancy termination due to gastroschisis/omphalocele,diaphragmatic hernia,and skeletal malformations in the improved group were all lower than those in the baseline group[57.4%(27/47)vs.30.0%(6/20),χ^(2)=4.23;59.0%(23/39)vs.31.3%(10/32),χ^(2)=5.43;51.8%(72/139)vs.17.2%(11/64),χ^(2)=21.72;all P<0.05].(5)Among the 3695 live births,1979(53.6%)were delivered by cesarean section and 1716(46.4%)by vaginal delivery;3633(98.3%)survived and 62(1.7%)died in the neonatal period.The survival rate of newborns in the improved group was higher than that in the baseline group[98.8%(1648/1668)vs.97.9%(1985/2027),χ^(2)=4.23,P=0.040].Among the 62 dead newborns,51(82.3%)had fatal structural or chromosomal abnormalities.(6)In the surviving neonates,372(10.2%)showed no abnormalities in a postnatal reexamination,and 468(12.9%)received surgical treatment in the neonatal period.The other 2793 cases received no treatment in the neonatal period but were followed up regularly.Conclusion The optimized prenatal multidisciplinary consultation mode effectively reduces the rate of pregnancy termination due to non-fatal single structural malformations and increases the survival rate of newborns.