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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 explore the screening of fetal chromosomal abnormalities in early pregnancy program. METHODS: Twenty-four pregnant women of one single gestational age between 11 and 14 weeks were enrolled in this study. Fetal neck translucent film (NT) thickness was measured by abdominal or vaginal B-mode ultrasound. According to the measured NT data and pregnant women’s age, the risk of fetal chromosomal abnormality was calculated by computer. The screening of high-risk fetus is further prenatal diagnosis (amniotic fluid chromosome karyotype analysis). Results A total of 26 chromosomal abnormalities were detected, including 16 cases with Down syndrome (6 1.5%), 6 cases with abnormal sex chromosome number (2 3.08%) and 4 cases with chromosomal abnormalities (15.38%). All pregnant women under screening had a risk of more than 1/250 of 344 (15.35%). The detection rate of chromosomal abnormalities was 80.77% and the false positive rate was 6.5% The rate was 87.5%. Conclusions The duplex screening program of NT + pregnant women in early pregnancy has good practical value in clinical screening of fetal chromosomal abnormalities in early pregnancy.