CAJ | 학술논문

目的实施胎儿鼻骨测量联合血清学筛查(平行试验),评估平行试验对染色体异常检测率的影响.方法于2009年1月至2010年12月在嘉兴市妇幼保健院超声检测6173例孕19 ～ 22周胎儿鼻骨长度.对其中血清学筛查高风险和(或)胎儿鼻骨异常的孕妇均做染色体核型分析.血清学筛查低风险且胎儿鼻骨正常者追踪随访其胎儿出生后婴儿状况.分析鼻骨长度与染色体异常的关系.结果5607例胎儿鼻骨超声检测成功,成功率90.83％ (5607/6173)；正常胎儿鼻骨长度随孕周增加而增长.血清学筛查染色体异常的敏感度为69.64％,血清学筛查分别联合胎儿鼻骨发育不良、胎儿鼻骨测量高风险对染色体异常检出的敏感度依次为79.76％、83.93％.结论胎儿鼻骨发育异常与染色体异常有密切关系.中孕期超声测量鼻骨长度是筛查胎儿染色体非整倍体异常和染色体片段异常的重要手段之一.平行试验可提高检出胎儿染色体非整倍体异常和染色体片段异常的敏感性.
목적 실시태인비골측량연합혈청학사사(평행시험),평고평행시험대염색체이상검측솔적영향.방법 우2009년1월지2010년12월재가흥시부유보건원초성검측6173례잉19 ～ 22주태인비골장도.대기중혈청학사사고풍험화(혹)태인비골이상적잉부균주염색체핵형분석.혈청학사사저풍험차태인비골정상자추종수방기태인출생후영인상황.분석비골장도여염색체이상적관계.결과5607례태인비골초성검측성공,성공솔90.83％ (5607/6173)；정상태인비골장도수잉주증가이증장.혈청학사사염색체이상적민감도위69.64％,혈청학사사분별연합태인비골발육불량、태인비골측량고풍험대염색체이상검출적민감도의차위79.76％、83.93％.결론 태인비골발육이상여염색체이상유밀절관계.중잉기초성측량비골장도시사사태인염색체비정배체이상화염색체편단이상적중요수단지일.평행시험가제고검출태인염색체비정배체이상화염색체편단이상적민감성.
Objective To assess the value of fetal chromosomal abnormality screening by a maternal serum test plus fetal nasal bone length in second trimester ( parallel test).Methods From January 2009 to December 2010,fetal nasal bone was measured at 19-22 weeks gestation in 6173 unselected cases.Karyotyping was performed in cases with a high risk for maternal serum test and/or abnormal fetal nasal bone length.All cases were followed-up postnatally.Results Nasal bone was assessed successfully in 5607 cases (90.83％ ).Normally it is increases with gestational age.The detection rate of chromosomal abnormality was 69.64％ by maternal serum test,79.76％ by maternal serum test plus hypoplastic nasal bone and 83.93％ by maternal serum test plus shortened nasal bone.Conclusion Fetal nasal bone hypoplasia is closely correlated with chromosomal abnormality.And sonographic evaluation of nasal bone may be a useful tool for screening chromosomal abnormality.The combination of maternal serum test and fetal nasal bone length will boost the detection rate of chromosomal abnormality.