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目的分析不同年龄阶段具有产前筛查高危因素的孕妇发生胎儿染色体异常的特点。方法收集2014-2016年在首都医科大学附属北京妇产医院进行产前诊断的9 638例孕妇,按照不同年龄阶段分为3组,A组年龄<35岁、B组年龄35~39岁、C组年龄≥40岁,对其胎儿染色体核型分析结果进行回顾性分析。结果总样本中胎儿染色体异常的构成为21三体综合征2.7%,染色体结构异常2.6%,性染色体数目异常1.1%,18三体综合征1.0%,其他染色体数目异常0.2%及13三体综合征0.1%。A组中胎儿染色体异常的发病率为10.4%,B组为5.8%,C组为9.1%,3组间差异有统计学意义(P<0.05);21三体综合征和性染色体数目异常的发生率A组与B组、B组与C组差异有统计学意义(P<0.05);3组间18三体综合征、13三体综合征及其他染色体数目异常的发生率进行比较差异无统计学意义(P>0.05);染色体结构异常的发生率A组与B组、A组与C组差异有统计学意义(P<0.05)。结论年龄35~39岁的孕妇与经过产前筛查发现存在高危因素的年龄<35岁的孕妇比较其发生胎儿染色体异常的风险无明显升高,灌序产前筛查有助于提高胎儿染色体异常的诊断能力。
Objective To analyze the characteristics of fetal chromosomal abnormalities in pregnant women who have the risk of prenatal screening in different age groups. Methods Nine 638 pregnant women with prenatal diagnosis at Beijing Maternity Hospital Affiliated to Capital Medical University from 2014 to 2016 were collected and divided into three groups according to different age groups: group A, age <35, group B, age 35-39, C Group of ≥ 40 years old, the fetal karyotype analysis results were retrospectively analyzed. Results Fetal chromosomal aberrations in total samples were 2.7% of trisomy 21, 2.6% of chromosomal abnormalities, 1.1% of abnormalities of chromosomal abnormalities, 1.0% of trisomy 18, 0.2% of other chromosome abnormalities, and 13 trisomy Levy 0.1%. The incidence of fetal chromosomal abnormalities in group A was 10.4%, in group B 5.8% and in group C 9.1%, with significant difference between the three groups (P <0.05); trisomy 21 and abnormal sex chromosome number There was significant difference between the incidence of group A and group B, group B and group C (P <0.05). There was no difference between the three groups in the incidence of trisomy 18, trisomy 13 and other chromosomal abnormalities Statistical significance (P> 0.05). There was a significant difference in the incidence of chromosomal abnormalities between group A and group B, group A and group C (P <0.05). Conclusion Pregnant women aged 35-39 years and pregnant women <35 years of age who were at high risk of prenatal screening showed no significant increase in the risk of fetal chromosomal abnormalities. Prenatal screening can help improve fetal chromosomes Abnormal diagnostic ability.