摘要
目的:探讨高龄(预产期年龄≥35岁)孕妇胎儿染色体异常发生情况,为高龄孕妇选择更合适的产前筛查或产前诊断提供依据。方法:回顾性分析2008-2018年本院4224例因高龄行产前诊断的单胎妊娠孕妇临床资料,以年龄、合并超声软指标(USM)、孕中期血清学筛查(STSS)和胎儿染色体非整倍体无创DNA产前检测(NIPT)高危分组,比较胎儿染色体分布情况并分析临床筛查意义。结果:4224例高龄孕妇中,胎儿染色体异常321例(7.6%),染色体非整倍体274例(6.5%),占染色体异常核型的85.4%;21三体180例(4.3%),占染色体异常核型的56.1%;染色体多态性核型91例(2.2%)。不同年龄高龄孕妇与胎儿染色体异常发生率、染色体非整倍体发生率、21三体发生率存在差异(P<0.05),而41岁以后组间比较并不显著。单纯高龄与高龄合并USM阳性孕妇,随着合并USM数目增多,胎儿染色体异常发生率、非整倍体发生率和21三体发生率均显著升高(P<0.05),高龄合并USM中,合并单脐动脉时染色体异常发生率和染色体非整倍体发生率最高,合并侧脑室增宽次之;高龄合并侧脑室增宽时,21三体发生率最高,合并NF增厚次之。高龄合并STSS、NIPT高危孕妇中以合并NIPT-21三体高危的胎儿染色体异常发生率最高。结论:单纯高龄孕妇妊娠结局较好,若预产期年龄≤40岁,伴有产前诊断禁忌证或怀有珍贵儿时,可在医师指导下优先选择STSS、NIPT联合USM筛查。高龄合并USM阳性如单脐动脉、侧脑室增宽、NF增厚时,尤其合并多项USM阳性时,或合并STSS、NIPT高危或预产期年龄≥41岁,建议在签署知情同意书情况下行侵入性产前诊断。
Objective: To investigate the occurrence of fetal chromosomal abnormalities of elderly women(≥ 35 years old when expected date of confinement), and to provide evidence for selecting more appropriate technique of prenatal screening or prenatal diagnosis for elderly pregnant women. Methods: A retrospective analysis was conducted on the data of 4224 unifetal pregnant women who had experienced prenatal diagnosis due to elderly age from 2008 to 2018. And they were divided into different groups according to the preganant women age, whether with abnormal ultrasound soft markers(USM), whether with abnormal serum screening index during the second trimester of pregnancy, and whether with abnormal noninvasive prenatal testing(NIPT) high-risk. The distribution of fetal chromosomes was compared among these groups, and the significance of clinical screening was analyzed. Results: Among the 4224 elderly pregnant women, there were 321 cases(7.6%) fetuses with chromosome abnormality, which ingcluded 274 cases(6.5%) had chromosome aneuploidy, and it accounted for 85.36% of the women with abnormal karyotypes. There were 180 cases(4.26%) with trisomy 21 in 321 fetuses with chromosome abnormality, which accounted for 56.1% fetuses with abnormal karyotypes. And there were 91 cases(2.15%) with hromosome polymorphism. There were significant different in the incidences of fetal chromosomal abnormalities, chromosomal aneuploidy, and trisomy 21 among different ederly pregnant women(P<0.05), but which had no significant different among pregnant women with ≥ 41 years old. When the abnormal USM number of fetus increased, the incidences of fetal chromosomal abnormalities,aneuploid,or trisomy 21 of ederly pregnant women had increased(P<0.05).The incidence of chromosomal abnormalities or chromosomal aneuploidy of fetus with abnormal USM and single umbilical artery was the highest,and that of fetus with abnormal USM and lateral ventricle broadening was the second highest.The incidence of trisomy 21 of fetus with lateral ventricle broadening was the highest,and which of fetus with incrassation of NF was the second highest.The incidence of chromosomal abnormalities of fetus with high risk of trisomy 21 by NIPT was the highest.Conclusion:The pregnancy outcomes of ederly pregnant women without other complication are good.If the age of pregnant women before delivery is less than 40 years old,and has antenatal diagnostic contraindications or has precious fetus,STSS and NIPT combined with USM screening guided by doctor should be performed.Ederly pregnant women with uniumbilical artery,lateral ventricle broadening,or NF thickening,especially with abnormal USM,high risk of STSS or NIPT,or≥41 years old,it is recommended to sign informed consent before invasive prenatal diagnosis.
作者
马丽爽
徐建扬
王方娜
李亚丽
MA Lishuang;XU Jianyang;WANG Fangna;LI Yali(Hebei Provincial People’s Hospital,Shijiazhuang,Hebei Province,050051)
出处
《中国计划生育学杂志》
2020年第10期1596-1600,1605,共6页
Chinese Journal of Family Planning
基金
河北省科技计划项目(17277728D)
河北省医学科学研究重点课题(20190338)。
关键词
高龄孕妇
产前诊断
超声软指标
血清学筛查
染色体核型分析
Elderly pregnant women
Prenatal diagnosis
Ultrasound soft markers
Serological screening
Chromosome karyotype analysis
