11～13^(+6)周胎儿超声与染色体异常的关系

The relationsipe of ultrasonic and chromosomal abnormalities of fetal in 11-13^(+6) weeks

目的评价11-13+6周胎儿超声检查在早孕期检出胎儿染色体异常方面的作用。方法超声测量的NT值结合胎儿鼻骨、孕妇年龄及早孕期血清生化学检查重新评估其风险值,对于新风险值仍是高风险胎儿进行染色体检查.NT测量监测方法及判定标准均按照英国胎儿医学基金会测量监测方法和标准。结果新风险值仍为高风险的为158例,进行染色体检查的共125例,最终检出染色体异常16例,其中6例21三体,2例18三体,4例45,XO,其他4例。16例染色体异常中NT增厚10例,鼻骨未显示3例。结论 11-13+6周胎儿超声检查是孕早期筛查胎儿染色体异常的敏感而有效的超声指标。

Objective： To investigate the value of 11-13^＋6 gestational weeks ultrasound screening to check out the fetal chromosomal abnormality.Methods. Fetal thickened nuchal translucency （NT） and nasal bone were combined with pregnant women age and early pregnancy serum biochemistry examination to reassess their risk values, then examined fetal chromosome if their new values are still in high-risk.The monitoring method and objective criteria for measuring the NT according to the British fetal medicine foundation＇s monitoring methods and standards.Results. The new risk value still in high risk were 158 cases, 125 cases were examined the fetal chromosome, and finally checked out chromosomal abnormalities in 16 cases, including 6 cases of trisomy 21 syndrome, 2 cases of trisomy 18 syndrome, 4 cases of 45, XO, and 4 cases of other chromosomal abnormalities. In the cases of chromosome abnormalities, there were 10 cases of NT thickening, 3 cases of nasal bone absence.Conclusion： Ultrasound screening in the 11-13^＋6 weeks is sensitive and effective ultrasound-index to exam for fetal chromosomal abnormalities.