摘要
目的回顾分析湖州地区高龄孕妇的产前诊断结果,为高龄孕妇产前检测的方法选择和遗传咨询提供理论依据。方法对2019年1月至2023年12月湖州市妇幼保健院进行有创产前诊断同时行羊水染色体核型与染色体微阵列分析的1756例高龄孕妇的产前诊断结果、妊娠结局进行回顾性分析。根据产前诊断指征(如单纯高龄、合并超声异常、合并不明原因不良孕产史及无创产前检测高风险)和预产年龄,对产前诊断结果进行分类与比较分析。结果产前诊断结果提示108例胎儿存在染色体异常(检出率为6.15%),其中21-三体51例,18-三体12例,性染色体非整倍体20例,其他染色体非整倍体1例,基因组拷贝数变异(CNVs)中致病性CNVs 24例。按产前诊断指征分类,仅单纯因高龄进行诊断的胎儿染色体异常的检出率为1.98%(28/1416);合并超声异常的检出率为20.26%(28/153);合并不良孕产史的检出率为1.22%(1/82);无创高风险的检出率为45.71%(48/105)。按孕妇预产年龄分类,35~36岁的异常检出率为7.36%(36/489),37~38岁异常检出率为5.79%(27/466),39~40岁异常检出率为4.29%(15/350),41~42岁异常检出率为5.80%(17/293);超过43岁异常检出率8.23%(13/158),均为染色体非整倍体异常。从单纯高龄孕妇来看,CNVs检出率与年龄无明显相关;当预产年龄在41岁以上时,染色体非整倍体异常检出率显著增高。随访结果显示,未检出染色体异常的胎儿异常妊娠结局为2.55%;染色体异常胎儿引产97例,引产率为89.81%。结论湖州地区的高龄孕妇随年龄增大,特别是41岁以上,胎儿染色体非整倍体异常检出率显著增加;CNVs异常未见与年龄的相关性,但对合并超声异常者要特别注意胎儿携带CNVs的情况。
Objective To retrospectively analyze the prenatal diagnosis results of advanced maternal age pregnancies in Huzhou so as to provide theoretical guidance for the choice of prenatal screening methods and genetic counseling for advanced maternal age pregnancies.Methods A retrospective analysis was conducted on the prenatal diagnosis results and pregnancy outcomes of 1756 advanced maternal age pregnancies who underwent invasive prenatal diagnosis with amniocentesis for chromosomal karyotyping and chromosomal microarray analysis at Huzhou Maternity and Child Health Care Hospital between January 2019 and December 2023.The prenatal diagnosis results were classified and compared based on indications for prenatal diagnosis(such as pure advanced maternal age,combined ultrasound abnormalities,combined unexplained adverse pregnancy history,and high risk in non-invasive prenatal screening)and maternal age at delivery.Results Among the 1756 advanced maternal age pregnancies,108 cases(6.15%detection rate)had chromosomal abnor-malities.Of these,51 cases had trisomy 21,12 had trisomy 18,20 had sex chromosome aneuploidies,one had other chromosomal aneuploidy,and 24 had pathogenic copy number variations.By classification based on prenatal diagnosis indications,the detection rate of chromosomal abnormalities in cases diagnosed solely due to advanced maternal age was 1.98%(28/1416),while it was 20.26%(28/153)for cases with obstetric ultrasound abnormalities,1.22%(1/82)for those with a history of adverse pregnancy outcomes,and 45.71%(48/105)for high-risk non-invasive prenatal screening cases.Based on maternal age,the abnormal detection rate in the 35-36 years group was 7.36%(36/489),5.79%(27/466)in the 37-38 years group,4.29%(15/350)in the 39-40 years group,and 5.80%(17/293)in the 41-42 years group.For those over 43 years old,all chromosomal abnormalities were aneuploidies,with a detection rate of 8.23%(13/158).In terms of advanced maternal age pregnancies alone,the detection rate of CNVs was not significantly related to age.However,for those with a maternal age of 41 years and older,the incidence of chromosomal aneuploidy significantly increased.Follow-up results showed that the abnormal pregnancy outcome rate for fetuses without chromosomal abnormalities was 2.55%,while 97 cases of chromosomally abnormal fetuses underwent induction,with an induction rate of 89.81%.Conclusion As maternal age increases,particularly above 41 years,the incidence of chromosomal aneuploidy in fetuses significantly increases.CNVs abnormalities were not found to be related to age,but extra attention should be paid to fetuses with CNVs in cases with ultrasound abnormalities.
作者
张鑫丽
阳鑫妙
姚娟
范丽红
章静慧
沈国松
ZHANG Xinli;YANG Xinmiao;YAO Juan;FAN Lihong;ZHANG Jinghui;SHEN Guosong(Department of Medical Laboratory Center,Huzhou Maternity and Child Health Care Hospital,Huzhou 313000,China)
出处
《浙江医学》
2025年第4期369-374,共6页
Zhejiang Medical Journal
基金
湖州市科学技术局公益性应用研究项目(2023GY06)。
关键词
高龄孕妇
产前诊断
胎儿染色体异常
拷贝数变异
Advanced maternal age women
Prenatal diagnosis
Fetal chromosomal abnormalities
Copy number variants
