CAJ | 학술논문

目的评价无创性产前检测技术(NIPT)在准备进行侵入性产前诊断的高危孕妇中的应用.方法 2014年2至5月,前瞻性入组参与NIPT试剂盒临床试验的北京大学第一医院、浙江大学医学院附属妇产科医院及第四军医大学西京医院等,共18家产前诊断中心的高危孕妇,记录临床指征、年龄、孕周等数据,进行侵入性产前诊断染色体核型分析结果和NIPT结果对比.结果 18家产前诊断中心共2 439例高危孕妇入组,剔除36例临床纪录不全、9例染色体核型分析失败、3例NIPT检测失败病例,对2 391例病例进行分析.孕周范围11 ～31周,产前诊断指征以血清学筛查高风险为主,占56.3％(1 345/2 691),高龄孕妇26.0％(621/2 391).染色体核型分析结果共发现46例常见非整倍体(Trisomy,T)(38例T21,7例T18,1例T13),同期NIPT结果提示为一一对应T21、18、13高风险,同时未见“NIPT高风险而核型分析为正常”病例.结论对于现有以中孕期血清学筛查高危为主要指征的产前诊断高危孕妇,通过NIPT可以大幅提高T21、T18、T13的筛查效率,从而减少不必要的侵入性产前诊断.
목적 평개무창성산전검측기술(NIPT)재준비진행침입성산전진단적고위잉부중적응용.방법 2014년2지5월,전첨성입조삼여NIPT시제합림상시험적북경대학제일의원、절강대학의학원부속부산과의원급제사군의대학서경의원등,공18가산전진단중심적고위잉부,기록림상지정、년령、잉주등수거,진행침입성산전진단염색체핵형분석결과화NIPT결과대비.결과 18가산전진단중심공2 439례고위잉부입조,척제36례림상기록불전、9례염색체핵형분석실패、3례NIPT검측실패병례,대2 391례병례진행분석.잉주범위11 ～31주,산전진단지정이혈청학사사고풍험위주,점56.3％(1 345/2 691),고령잉부26.0％(621/2 391).염색체핵형분석결과공발현46례상견비정배체(Trisomy,T)(38례T21,7례T18,1례T13),동기NIPT결과제시위일일대응T21、18、13고풍험,동시미견“NIPT고풍험이핵형분석위정상”병례.결론 대우현유이중잉기혈청학사사고위위주요지정적산전진단고위잉부,통과NIPT가이대폭제고T21、T18、T13적사사효솔,종이감소불필요적침입성산전진단.
Objective To evaluate the application of non-invasive prenatal testing (NIPT) in high-risk pregnancies before invasive prenatal diagnosis.Methods This prospective study involved all pregnancies participating in the clinical trial of NIPT validation.The indication,age and gestational week were recorded.And the results of karyotype and NIPT risk were compared.Results A total of 2 439 high-risk pregnancies were enrolled from 18 prenatal diagnosis clinics in China.After excluding 48 cases (36 missing clinical information,9 karyotype failures and 3 NIPT failures),2 391 cases were analyzed.Their gestational ages were 10 to 31 weeks.And 56.3％ (1 345/2 691) were at a high risk for mid-trimester screening,following by advanced maternal age (26.0％,621/2 391).Forty-six aneuploidies (trisomy 21,n =38 ; trisomy 18,n =7 ; trisomy 13,n =1) were diagnosed by karyotyping.And it was consistent with the NIPT results of high-risk distribution.Conclusion NIPT may be used to reduce unnecessary invasive prenatal diagnosis by improving the efficacy of current mid-trimester screening strategy,particularly for trisomy 21.