联合早孕期超声检查与无创产前基因检测筛查染色体非整倍体 [中文引用][英文引用]

目的 联合早孕期超声检查与无创产前基因检测进行胎儿染色体非整倍体的筛查，探讨联合筛查的临床价值。方法 以2012年12月至2015年3月间于我院进行早孕期(11～13⁺⁶周)超声检查孕妇共10 341例作为研究对象，根据孕妇选择的早孕期检查项目分为超声组及联合组。联合组中超声检查发现胎儿异常和（或）NIPT高风险为联合筛查高风险，超声检查未发现胎儿异常且NIPT低风险为联合筛查低风险。对超声组与联合组的筛查阳性率及染色体非整倍体检出率进行统计分析对比。结果 超声组共7274例，其中超声检查发现胎儿异常共265例，筛查阳性率为3.42%（265/7274），行产前检查79例，染色体非整倍体11例，检出率为13.9%（11/79）；联合组共3067例，其中联合筛查高风险共154例，筛查阳性率为5.02%（154/3067），行产前诊断18例，其中12例为染色体非整体，检出率为67.6%（12/18）。联合组筛查阳性率及非整倍体检出率均高于超声组，其中筛查阳性率差异有统计学意义（P=0.001）。结论 早孕期超声检查联合无创产前基因检测可提高筛查阳性率及非整倍体的检出率，二者互为补充，能有效地筛查非整倍体及减少漏诊。

Objective  To discuss the value of combination of first trimester ultrasound and non-invasive prenatal testing for screening fetal chromosomal aneuploid. Method  A total of 10341 pregnant women who had first-trimester ultrasound scan in our hospital from December 2012 to March 2015 were chosen. All these women were divided into two groups, the ultrasound group and combined screening group. Abnormalities found in ultrasonography and/or NIPT high risk were defined as high risk in combined screening group. And cases with both normal ultrasonic finding and NIPT low risk were defined as low risk of combined screening. The screening positive rate and aneuploidy detectable rate of these two groups were compared. Results Totally 265 cases were found abnormal in these 7274 cases in ultrasound group and the screening positive rate was 3.42%(265/7274). 79 cases had karyotype analysis and 11 cases were aneuploidy. The detectable rate was 13.9%(11/79). There were 3067 cases in combined group and 154 of them were high risk. The screening positive rate was 5.02%(154/3067). 18 cases had karyotype analysis  and 12 cases of them were aneuploidy. The detectable rate was67.6%(12/18). The screening positive rate and detectable rate of combined screening group were both higher than those of ultrasound group. Conclusions Combination of first trimester ultrasound scan and non-invasive prenatal testing could improve screening positive rate and aneuploidy detectable rate. This method could effectively screen aneuploid and decrease missed diagnosis rate.