心脏出生缺陷胎儿产前诊断与分级咨询后的随访研究

Follow-up study of fetal cardiac birth defects after prenatal diagnosis and graded counseling

目的通过对心脏出生缺陷(CBD)胎儿进行准确产前诊断、分级咨询后, 结合胎儿CBD分级对其临床随访结果进行研究, 为产前-产后一体化治疗提供数据基础。方法收集2018年1月至2020年12月广东省人民医院产前诊断结果为CBD的胎儿1 971例的临床资料。按照预后、出生后可能的手术时机将胎儿CBD分成Ⅰ~Ⅵ级, 并提出分级标准及包含的常见疾病种类。随访孕妇经产前分级咨询后胎儿的结局, 计算引产率、活产率、产前产后超声诊断符合率等指标。统计各级的疾病种类构成比、不同分级胎儿的预后及一体化治疗的结局。结果本院产前诊断为CBD的胎儿1 971例, 占行胎儿心脏超声检查总人数的16.2%(1 971/12 188), 排除因其他原因引产者30例, 最终纳入本研究1 941例, 其中Ⅰ级196例(10.1%)、Ⅱ级433例(22.3%)、Ⅲ级615例(31.7%)、Ⅳ级261例(13.4%)、Ⅴ级388例(20.0%)、Ⅵ级48例(2.5%), Ⅱ级和Ⅲ级(手术时间为出生后1年内)共占54.0%(1 048/1 941)。部分病种的分布在不同分级中具有明显的占比优势, 具有代表性。1 747例成功随访的孕妇中因胎儿CBD终止妊娠者736例, 引产率为42.1%(736/1 747);死胎1例;活产1 010例, 活产率为57.8%(1 010/1 747), 无死产。活产儿中975例(96.5%, 975/1 010)产前与产后诊断一致, 漏诊3例, 误诊32例;Ⅰ~Ⅲ级(主要为严重、复杂先天性心脏病)活产儿产前与产后诊断符合率为98.5%(383/389)。258例胎儿已在出生后进行手术治疗, Ⅱ级和Ⅲ级的手术比例比较, 差异有统计学意义(χ2=47.3, P<0.001)。随着分级水平的升高, Ⅰ~Ⅴ级(除Ⅵ级外)的活产率逐渐上升, 引产率逐渐下降。经比较, Ⅰ~Ⅴ级之间引产率和活产率的差异均有统计学意义(χ2=623.6, P<0.001)。结论产前诊断和产前分级咨询是CBD胎儿产前-产后一体化治疗模式中的重要环节;根据胎儿CBD分级可以细化胎儿出生后的治疗策略, 指导分娩决策, 并可作为产前诊断及产前咨询开展是否规范合理的评价标准。

Objective To explore accurate prenatal diagnosis,full-coverage graded counseling and follow-up for the fetus with cardiac birth defects(CBD).Methods CBD fetus diagnosed prenatal by echocardiography from January 2018 to December 2020 in Guangdong Provincial People's Hospital were enrolled.Fetal CBD was graded(Ⅰ-Ⅵ)according to prognosis and possible operation time after birth,and the classification criteria and common diseases included were proposed.After the prenatal grading counseling,the outcome of the fetus was followed-up.The induced labor rate,live birth rate,prenatal and postnatal ultrasound diagnosis coincidence rate and other indicators were calculated.The disease composition ratio,prognosis of fetus with different grades and the outcome of integrated treatment were analyzed.Results The detection rate of fetal CBD was up to 16.2%(1971/12188),30 cases of which were excluded.A total of 1941 cases were included in this study,including 196 cases(10.1%)of gradeⅠ,433 cases(22.3%)of gradeⅡ,615 cases(31.7%)of gradeⅢ,261 cases(13.4%)of gradeⅣ,388 cases(20.0%)of gradeⅤ,48 cases(2.5%)of gradeⅥ.GradeⅡand gradeⅢ(the operation time was within 1 year after birth)accounted for 54.0%(1048/1941).The distribution of some diseases in different grades had obvious proportion advantage,which was representative.Among 1747 CBD fetus,736 cases(induced labor rate 42.1%)chose to terminate pregnancy due to CBD.Of the 1010 live births,975 cases(96.5%)had the same prenatal and postnatal diagnosis,3 cases were missed diagnosis and 32 cases were misdiagnosed.The diagnostic accuracy of live births with severe and complex congenital heart disease was 383 out of 389(98.5%).A total of 258 cases have received surgery or intervention.The age at the time of surgery or intervention was different among grades(χ²=47.3,P<0.001).With the improvement of prognosis from gradeⅠtoⅤ,the live birth rate increased and the induced labor rate decreased accordingly;the difference between grades was significant(χ²=623.6,P<0.001).Conclusions Prenatal diagnosis and graded counseling is important in the integrated model.Fetal CBD grading could refine post-natal treatment strategies,guide delivery decisions and become an evaluation standard.