胎儿心脏病产前诊断与咨询一体化新模式的建立及其效果

Establishment of a new integrative mode of prenatal diagnosis and counseling for fetal cardiac anomalies and its efficiency

目的 探讨多学科合作下的胎儿心脏病产前诊断与咨询一体化新模式以及“胎儿心脏病的分级量表”在先天性心脏病产前管理中的应用价值. 方法 制订“胎儿心脏病的分级量表”及胎儿心脏病产前诊断与咨询一体化的新型服务模式,即由包括产科超声医师、胎儿医学专科医师、小儿心内科医师以及遗传学专家在内的围产医学团队,根据产前胎儿超声心动图检查结果,以及“胎儿心脏病的分级量表”分级结果,向孕妇家庭提供详尽的围产期咨询.2011年1月1日至2012年12月31日,对在同济大学附属第一妇婴保健院胎儿医学部接受胎儿超声心动图检查的孕妇提供该新型服务模式.分析该模式在先天性心脏病产前管理中的作用,不同心脏病分级组间引产率的差异比较采用Fisher精确概率法. 结果 “胎儿心脏病的分级量表”将胎儿心脏病分为4级：Ⅰ级指轻微心脏病,基本无需治疗;Ⅱ级指简单心脏病,出生后需要治疗,但生活质量与正常人无异;Ⅲ级指治疗效果良好的复杂性心脏病;Ⅳ级指严重复杂性心脏病.产前超声心动图共确诊胎儿有心脏病的孕妇54例,平均年龄（29±3）岁,平均孕周（28.0±3.8）周.共引产27例,胎儿心脏病Ⅳ级的孕妇引产率为17/19,明显高于Ⅰ～Ⅲ级者（分别为3/15、3/10和4/10）,差异均有统计学意义（Fisher精确概率法,P均＜0.01）.19例Ⅳ级病例中,共17例选择终止妊娠,另2例选择继续妊娠至分娩,原因均为双胎妊娠但另一胎儿正常.7例合并心外结构异常、染色体异常或遗传综合征的病例均选择引产终止妊娠. 结论 在临床实践中构建多学科合作下的胎儿心脏病产前诊断与咨询一体化的新模式,推行“胎儿心脏病的分级量表”,有助于为心脏病胎儿孕妇及其家庭提供全面的、真实的疾病信息以及符合伦理学的个体化建议.

Objective To explore a new mode of prenatal diagnosis and counseling for congenital heart disease （ CHD ） by interdisciplinary cooperation and the value of ＂Grading scale of fetal echocardiography＂ in disease management. Methods The ＂Grading scale of fetal echocardiography＂ and a new integrative service mode of prenatal diagnosis and counseling for CHD with multidisciplinary team, including obstetric sonographers, obstetricians, pediatric cardiologists and geneticists, was established. For pregnant women referred to prenatal clinic in Shanghai First Maternity and Infant Hospital from January 1, 2011 to December 31, 2012, counseling about the diagnosis, severity, treatment options and long-term prognosis would be provided based on detailed fetal echocardiography and the grading scales. The significance of such mode in the prenatal management of CHD was analyzed and the rate of pregnancy termination was compared by Fisher exact test. Result According to the ＂Grading scale of fetal echocardiography＂, there were four categories： Class I , minor anomalies probably without treatment requried; Class lI , simple defects with normal life quality following after-born therapy; Class 11I , complex anomalies with reasonable life quality after treatment; Class IV , severe malformation requiring multiple stage surgical repair or with very poor prognosis. There were a total of 54 pregnancies confirmed to have fetal cardiac anomalies by echocardiography, among which 27 were terminated. The average age of pregnant women was （ 29±3 ） years old, the average gestational week was 28.0±3.8. The abortion rate in women with the fetuses diagnosed as Class IV CHD was 17/19, higher than that in Class I , II and III（ 3/15, 3/10 and 4/10, Fisher exact test, all P〈0.01 ） . In 19 Class IV cases, only two twin pregnant women continued their pregnancies because the other fetuses were healthy. Abortion was conducted in all 7 fetuses associated with extra cardiac, chromosome anomaly or genetic syndrome. Conclusion The establishment of new integrated mode of prenatal diagnosis and counseling for CHD and ＂Grading scale of fetal echocardiography＂ in a multidisciplinary manner could provide comprehensive and authentic information and ethical advices for the families.