复杂性单绒毛膜双胎妊娠的产前诊断及妊娠结局 [中文引用][英文引用]

目的 分析复杂性单绒毛膜双胎妊娠的产前诊断结果及其妊娠结局。方法 回顾性分析2005年8月至2012年1月在本中心行羊膜腔穿刺的56例复杂性单绒毛膜双胎妊娠病例，分析其染色体核型结果及妊娠结局。结果 ①56例复杂性单绒毛膜双胎妊娠病例，3例失访，入选病例53例。53例双胎均为单绒毛膜双羊膜囊（MCDA）双胎，43.4%（23/53）病例分别行双羊膜囊穿刺，余30例仅行单羊膜囊穿刺，平均羊膜腔穿刺孕周为（23.0±3.6）周。②根据超声诊断，将53例复杂性单绒毛膜双胎分组，TTTS组 24例（45.3%），sIUGR组 15例（28.3%）及TRAP组 14例（26.4%）。18例行选择性减胎术，其中3例行射频消融减胎术，15例行脐带双极电凝减胎术。③共有106例胎儿，获得72例（67.9%）胎儿羊水标本，行染色体核型分析，染色体异常率为2.8%（2/72），核型分别为46XY[14]/46XX[36]和47,XY,+18。④追踪被保留的53例胎儿妊娠结局，1例胎儿流产，17例胎儿引产，25例胎儿早产和10例胎儿足月产，平均分娩孕周为（35.0±2.8）周。18例减胎术均成功完成，分娩 12例活婴新生儿，平均分娩孕周为（35.6±3.2）周，平均出生体重为2.3kg，总存活率为66.7%。对比2组足月产的比率，减胎组高于未减胎组，但是无统计学意义（50% VS 17.4%，P=0.059）。结论 复杂性单绒毛膜双胎妊娠，尤其是可能行宫内介入治疗的病例有必要行介入性产前诊断；双胎产前诊断应对2个胎儿分别取样查各自胎儿的染色体核型；双胎行羊膜腔穿刺在严格把握指征和掌握熟练的穿刺技术前提下是可行且相对安全的；复杂性单绒毛膜双胎宫内选择性减胎可延长孕周，改善妊娠结局。

Objective To analyze the karyotype results and the pregnancy outcomes of complicated monochorionic twin pregnancies after amniocentesis. Method  Retrospective study of the karyotype results and the pregnancy outcomes of 56 complicated monochorionic twin pregnancies performed amniocentesis from August 2005 to Jan 2012 in Fetal Medicine Center of the First Affiliated Hospital, Sun Yat-sen University. Results ①Among 56 complicated monochorionic twin pregnancies with amniocentesis, 3 were excluded for unknown outcome. The remaining 53 complicated twin pregnancies were all monochorionic diamniotic (MCDA) twins. Twenty-three(43.4%) of the twins had two taps while the rest twins only had one tap. And the mean gestational age at the time of the procedure was （23.0±3.6 ）weeks. ②According to the diagnosis of the ultrasound, the 53 complicated monochorionic twins were divided into TTTS(24 cases, 45.3%),sIUGR(15 cases, 28.3%) and TRAP(14 cases, 26.4%).Selective feticide were performed on 18 cases, including 3 cases of radiofrequency ablation and 15 cases of bipolar cord coagulation. ③For all the 106 fetuses included, 72 karyotype results were recruited and 2(2.8%) abnormal chromosomal which were 46XY[14]/46XX[36] and 47,XY,+18 were detected. ④The follow-up of the pregnancy outcome showed 1 case of abortion, 17 cases termination of pregnancy, 25 cases of premature delivery and 10 cases of term labor. The mean gestational age at delivery was （35.0±2.8） weeks. All 18 cases of selective termination were technically successful. Overall survival was 66.7% with 12 live newborns. The mean gestational age at delivery was（35.6±3.2）weeks and the mean birth weight was 2.3kg.Comparing the rate of term labor between the cases with selective feticide and those only with amniocentesis, the former was better than the latter, but without statistical significance(50% VS 17.4%，P=0.059). Conclusions Our study showed that intervention prenatal diagnosis were necessary for complicated monochorionic twins especially for possible intrauterine intervention. Performing two taps is recommended for amniocentesis in twin pregnancy for analyze. It is feasible and relatively safe to perform amniocentesis in twin pregnancies with rigorous indication and experienced technique. The selective termination of one fetus in complicated monochorionic twins would prolong the gestational age of delivery and improve the pregnancy outcomes.