摘要
目的 探讨孕早期筛查胎儿染色体异常的方案。方法 2 2 4 1例孕龄在 11～ 14w单胎妊娠的孕妇接受筛查。采用腹式或阴式B型超声波测量胎儿颈部半透明膜 (NT)厚度 ;根据所测NT数据结合孕妇年龄由计算机算出胎儿染色体异常风险率。对所筛查出的高风险胎儿则进一步进行产前诊断 (羊水细胞染色体核型分析 )。结果 共筛查出 2 6例染色体异常 ,包括Down综合征 16例 (6 1.5 4 % )、性染色体数目异常 6例 (2 3.0 8% )、染色体结构异常 4例 (15 .38% )。所有接受筛查的孕妇中风险大于 1/ 2 5 0者 344例 (15 .35 % ) ;染色体异常检出率为 80 .77% ,假阳性率为 6 .5 0 % ;2 1三体检出率为 87.5 0 %。结论 孕早期NT +孕妇年龄二联筛查方案对孕早期临床筛查胎儿染色体异常有较好的实用价值。
Objective: To Investigate the performance of prenatal screening for chromosomal abnormalities in first trimester. Methods: 2241 pregnancies underwent nuchal translucency(NT) screening from 11 to 14 weeks' gestation. Fetal NT thickness was measured using transabdominal or transvaginal ultrasound. The risk for chromosomal abnormalities was calculated from a combination of maternal age and fetal NT. All chromosomal defects were diagnosed using medical cytogeneticsl. Results: Chromosomal defects were diagnosed in 26 cases, including 16(61.54%) cases of trisomy 21 and 6(23.08%) cases with defects associated sex chromosome and 4(15.38%) cases with other defects. The estimated risk based on maternal age and fetal NT was 1 in 250 or greater in 344(15.35%) cases. The detection rate of fetal chromosomal abnormalities was 80.77%, the detection rate of fetuses with trisomy 21 was 87.50% for a false-positive rate of 6.50%. Conclusion: A combination of nuchal translucency measurement and materal age provides an effective method of screening for chromosomal defects in first trimester.
出处
《中国优生与遗传杂志》
2005年第1期64-65,共2页
Chinese Journal of Birth Health & Heredity
基金
河南省医学科技创新人才工程项目 (2 0 0 186)
关键词
染色体异常
颈部半透明膜
产前筛查
孕早期
Chromosomal abnormalities
Nuchal translucency
Prenatal screening
First trimester
