目的通过对临沂地区双胎妊娠进行早中孕期超声检查和有创性产前诊断相结合，评估其在双胎妊娠中的应用价值。方法对2014年10月至2015年5月在孕11周前就就诊于我院的双胎妊娠进行早孕期超声，中孕期系统超声及有指征的有创性产前诊断的孕妇进行研究，统计孕妇年龄、早孕期超声、18～22周系统超声、有创性产前诊断、产前诊断结果、选择性减胎术等情况，对所有资料进行汇总，分析临沂地区双胎妊娠早中孕期系统超声检查情况，以及联合有创性产前诊断后胎儿异常的检出情况，并评估其应用价值。结果纳入研究的双胎妊娠共1437例，共有56例通过早中孕期系统超声检出有异常，其中早期超声检出异常7例，中期超声检出异常49例，所有超声异常的双胎妊娠均进行非指向性咨询，并均建议行有创性产前诊断，实际有创性产前诊断27例（48．2％），其中绒毛穿刺术3例，余24例均行羊水穿刺术。实际产前诊断胎儿数47个（包括双胎均行产前诊断21例，其中一胎行产前诊断5例），诊断5个染色体异常，均为双胎之一异常（其中包括1例超声无异常表现但产前诊断结果异常），包括2例双胎之一21三体综合征，染色体异常发生率10．6％（5／47）。行选择性减胎7例（5例染色体异常及2例超声异常染色体正常者），余均选择期待。避免了2例21三体综合征（其中包括超声无异常表现的1例）出生，同时还避免了2例18三体综合征、1例13三体、1例胎儿腹水、1例法洛四联症患儿的出生。结论将双胎妊娠早中孕期系统超声和有创性产前诊断进行联合，一方面能够明确畸形儿的染色体情况，避免了盲目减胎，另一方面可规避单纯超声的漏诊，提高检出率，是产前发现异常胎儿非常有效的手段，和选择性减胎术进行结合，能有效降低出生缺陷，在提高人口素质方面有重要的应用价值。%Objective Evaluate application value that ultrasound of first‐midtrimester combined with in‐vasive prenatal diagnosis in linyi city .Methods Research of first‐midtrimester pregnancy ultrasound com‐bined with invasive prenatal diagnosis in twin pregnancy from Octobor 2014 to May 2015 clinic in our hos‐pital during the 11 weeks ago ,statistics of pregnant age ,first trimester ultrasound ,18 to 22 weeks ultra‐sound ,invasive prenatal diagnosis ,prenatal diagnosis ,selective reduction ,etc .summary all the data ,a‐nalysis the application value of first‐midtrimester pregnancy ultrasound combined with invasive prenatal di‐agnosis in twin pregnancy in linyi city .Results Included in the study of a total of 1437 cases of twin preg‐nancy ,anomaly detection ,with pregnancy ultrasound system is 56 cases ,ultrasonic detection of first tri‐mestr abnormalities is 7 cases ,abnormal ultrasonic detection of midtrimester is 49 cases ,invasive prenatal diagnosis to all ultrasonic detection pregnancy ,actually have invasive prenatal diagnosis ,27 cases (48 . 2% ) ,including 3 patients to CVS ,24 cases to amniocentesis .The actual number of prenatal diagnosis of fetal 47 (including twins prenatal diagnosis in 21 cases ,one of the tires to prenatal diagnosis of 5 cases) , diagnosis of five chromosome abnormality ,are one of the twins anomalies (including 1 case no abnormal sonographic findings but prenatal diagnosis) ,including 2 cases of one of twins 21 three body syndrome , chromosome abnormality rate 10 .6% (5/47) .7 cases to selective reduction (5 cases of abnormal chromo‐some abnormality and 2 cases of ultrasonic normal chromosome) ,else choose expectation .Avoided the born of abnormal karyotypes including 2 cases of 47 ,+21 (including ultrasonic no abnormality in 1 case)、2 cases of 47 ,+18 and 1 case of 47 ,+13 ,and 1 case of fetal ascites ,1 cases of tetralogy of fallot .Conclu‐sion Combined first‐midtrimester pregnancy ultrasound with invasive prenatal diagnosis in twin pregnancy can identify chromosomes ,avoid the blind reduction ,and can improve the detection rate ,that is a very ef‐fective means of prenatal found abnormal fetus ,and combining the selective reduction can effectively re‐duce the birth defects ,w hich is important application value in improving population quality .
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