唐氏筛查在产前诊断中的应用价值(1)
[摘要] 目的 分析嘉興地区12 718例唐氏综合征血清学筛查结果，评价孕中期产前筛查胎儿染色体异常的效率。方法 对12 718例来自嘉兴市妇幼保健院产前诊断中心单胎妊娠孕妇进行血清学筛查，计算筛查效率，对筛查高风险孕妇进行产前诊断并分析胎儿染色体核型异常结果。 结果 筛查出高风险560例，高风险阳性率为4.4%，21-三体高风险428例，阳性率为3.37%;18-三体高风险57例，阳性率为0.45%;NTD高风险75例，阳性率为0.59%。发现21-三体阳性率随着孕妇年龄的增加也逐步升高。21～34岁年龄组21-三体筛查阳性率为2.88%(342/11855);≥35岁年龄组21-三体筛查阳性率为17.47%(83/475)，远远大于整体高风险阳性率4.4%及≤20岁低龄组21-三体筛查阳性率。≥35岁高龄组18-三体阳性率2.95%(14/475)也明显高于其他年龄组(P=0.0007)。孕15周、16周唐氏综合征筛查阳性率较高，与其他孕周组比较，差异有统计学意义(P=0.002)。检出21一三体综合征4例、18-三体综合征1例，其他染色体异常11例。 结论 中期血清学产前筛查可有效降低出生缺陷，孕妇年龄是唐氏综合征高风险的一个重要影响因素，重视产前筛查有利于早期诊断胎儿染色体异常。
[关键词] 唐氏综合征;筛查;染色体异常;风险率
[中图分类号] R714.5 [文献标识码] B [文章编号] 1673-9701(2020)16-0059-04
Application value of Down's screening in prenatal diagnosis
WANG Fang CHAI Xiaojun YANG Huanping LIU Xiaodan
Jiaxing Maternal and Child Health Hospital in Zhejiang Province， Jiaxing 314000， China
[Abstract] Objective To analyze the serological screening results of 12 718 cases of Down's syndrome in Jiaxing region， and to evaluate the efficiency of prenatal screening for fetal chromosomal abnormalities in the second trimester. Methods 12 718 singleton pregnant women from the Prenatal Diagnosis Center of Jiaxing Maternal and Child Health Hospital were performed with serological screening. The screening efficiency was calculated， prenatal diagnosis was performed on high-risk screened pregnant women， and the abnormal results of fetal chromosome karyotype were analyzed. Results After screening， there were 560 cases with high risk， with a high-risk positive rate of 4.4%; 428 cases with high risk of 21-trisomy， with a positive rate of 3.37%; 57 cases with high risk of 18-trisomy， with a positive rate of 0.45%; and 75 cases with high risk of NTD， with a positive rate of 0.59%. We found that the positive rate of 21-trisomy also gradually increased together with the age of pregnant women. The positive rate of 21-trisomy screening was 2.88%(342/11855) in the group aged 21 to 34 years; and 17.47%(83/475) in the group aged ≥35 years old， which was far higher than the overall high-risk positive rate of 4.4% and that in the younger group aged ≤20 years. The positive rate of 18-trisomy in the elderly group aged ≥35 years was 2.95%(14/475)， which was also significantly higher than that in other age groups(P=0.0007). The positive rates of Down's syndrome screening at 15 and 16 weeks gestation were higher， and the difference was statistically significant compared with other gestational groups(P=0.002). 4 cases of 21-trisomy syndrome， 1 case of 18-trisomy syndrome， and 11 cases of other chromosomal abnormalities were detected. Conclusion Mid-term serological prenatal screening can effectively reduce birth defects. The age of the pregnant woman is an important factor influencing the high risk of Down's syndrome. Attention to prenatal screening is conducive to the early diagnosis of fetal chromosomal abnormalities., 百拇医药(王芳 柴晓俊 杨焕萍 刘晓丹)
[关键词] 唐氏综合征;筛查;染色体异常;风险率
[中图分类号] R714.5 [文献标识码] B [文章编号] 1673-9701(2020)16-0059-04
Application value of Down's screening in prenatal diagnosis
WANG Fang CHAI Xiaojun YANG Huanping LIU Xiaodan
Jiaxing Maternal and Child Health Hospital in Zhejiang Province， Jiaxing 314000， China
[Abstract] Objective To analyze the serological screening results of 12 718 cases of Down's syndrome in Jiaxing region， and to evaluate the efficiency of prenatal screening for fetal chromosomal abnormalities in the second trimester. Methods 12 718 singleton pregnant women from the Prenatal Diagnosis Center of Jiaxing Maternal and Child Health Hospital were performed with serological screening. The screening efficiency was calculated， prenatal diagnosis was performed on high-risk screened pregnant women， and the abnormal results of fetal chromosome karyotype were analyzed. Results After screening， there were 560 cases with high risk， with a high-risk positive rate of 4.4%; 428 cases with high risk of 21-trisomy， with a positive rate of 3.37%; 57 cases with high risk of 18-trisomy， with a positive rate of 0.45%; and 75 cases with high risk of NTD， with a positive rate of 0.59%. We found that the positive rate of 21-trisomy also gradually increased together with the age of pregnant women. The positive rate of 21-trisomy screening was 2.88%(342/11855) in the group aged 21 to 34 years; and 17.47%(83/475) in the group aged ≥35 years old， which was far higher than the overall high-risk positive rate of 4.4% and that in the younger group aged ≤20 years. The positive rate of 18-trisomy in the elderly group aged ≥35 years was 2.95%(14/475)， which was also significantly higher than that in other age groups(P=0.0007). The positive rates of Down's syndrome screening at 15 and 16 weeks gestation were higher， and the difference was statistically significant compared with other gestational groups(P=0.002). 4 cases of 21-trisomy syndrome， 1 case of 18-trisomy syndrome， and 11 cases of other chromosomal abnormalities were detected. Conclusion Mid-term serological prenatal screening can effectively reduce birth defects. The age of the pregnant woman is an important factor influencing the high risk of Down's syndrome. Attention to prenatal screening is conducive to the early diagnosis of fetal chromosomal abnormalities., 百拇医药(王芳 柴晓俊 杨焕萍 刘晓丹)