摘要
目的:探讨游离胎儿DNA比例(FF)的影响因素及其与染色体异常疾病的相关性。方法:回顾分析孕妇年龄、孕周、体质量指数以及NIPS提示高风险胎儿与FF的关系。结果:FF主要分布范围是4%~25%。FF与孕周呈正相关,与孕妇年龄和体质量指数呈负相关。单胎胎儿的FF高于双/多胎妊娠胎儿,自然妊娠胎儿的FF高于辅助生殖妊娠胎儿,差异均有统计学意义(P<0.05)。高风险胎儿的FF高于低风险胎儿,差异均有统计学意义(P<0.05)。21、18和13-三体综合征的Z值与FF呈正相关。性染色体组真阳性和假阳性胎儿样本的FF比较,差异均有统计学意义(P<0.05)。微缺失组真阳性和假阳性胎儿样本的FF比较,差异均有统计学意义(P<0.05);微重复组真阳性和假阳性胎儿样本的FF无显著差异。结论:孕妇血浆cffDNA水平受母体和胎儿特征共同影响。临床实践中,应根据孕妇特征和FF进行NIPS的遗传咨询。
Objective:To investigate the influence factors of fetal DNA fraction(FF)and its correlation with chromosomal abnormalities.Methods:To analyze the effects of maternal age,gestational age,body mass index(BMI),and the relationship between FF and fetuses with high-risk by NIPS,retrospectively.Results:The main distribution range of FF was 4%~25%.The percentage of FF significantly increased with increase of gestational age.Decreased FF with increasing maternal BMI and maternal age.The FF of single fetus was higher than that of double/multiple pregnancy fetus,and the FF of natural pregnancy was higher than that of assisted reproduction fetus,and with a difference respectively.The FF of abnormal fetuses was higher than that of low-risk fetuses,and with a difference.Z-scores for trisomy 21,18 and 13 were positively correlated with FF.There was difference in FF between true-positive and false-positive fetal samples of the sex chromosomes group.There was a difference in FF between true-positive and false-positive fetal samples in the microdeletion group,but no difference in FF in true-positive and false-positive fetal samples in the microduplication group.Conclusion:The plasma cffDNA levels in pregnant women are affected by both maternal and fetal characteristics in this study.In clinical practice,genetic counseling for NIPS should be performed based on maternal characteristics and FF.
作者
代鹏
赵干业
胡爽
刘宁
孔祥东
Dai Peng;Zhao Ganye;Hu Shuang(Genetics and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052)
出处
《现代妇产科进展》
北大核心
2023年第1期18-22,28,共6页
Progress in Obstetrics and Gynecology
基金
河南省自然科学基金青年项目(No:202300410387)。
关键词
无创产前筛查
游离胎儿DNA比例
年龄
孕周
体质量指数
Non-invasive prenatal screening
Fetal DNA fraction
Maternal age
Gestational week
Body mass index