临沂北部县城地区产前筛查中9892例NIPT的应用分析

Analysis of the Application of NIPT in 9,892 Cases during Prenatal Screening in Northern County Towns of Linyi

目的 对临沂市北部县城地区NIPT(non-invasive prenatal testing)的应用现状及结果和随访进行分析,探讨NIPT在县城地区产前筛查中的应用价值及应用挑战。方法 收集2022年11月至2024年5月在临沂市中心医院行NIPT产前筛查的孕妇9892例,统计申请单孕妇诊断信息、NIPT结果与随访信息,整理数据进行统计学分析和探讨。结果 通过数据分析可得,该地区选择NIPT作为产前筛查手段的人群主要集中在高龄、自愿要求检测和中孕期血清学筛查临界风险者。错过中孕期血清学筛查时机、自愿要求检测、高龄人群NIPT结果中21-三体高风险、18-三体高风险、13-三体高风险检出率较高,错过中孕期血清学筛查时机、高龄、其他指征人群NIPT结果中性染色体异常、常染色体异常检出率较高;高龄孕妇产前诊断依从率较低,高龄孕妇医患沟通较困难且对性染色体和常染色体异常的胎儿接受度低。结论 NIPT在县城地区普及度较高,作为产前筛查手段对胎儿染色体异常检出率高,但县城地区高龄孕妇对NIPT异常后进行产前诊断的接受度低,导致发生可避免的出生缺陷。建议对于县城地区高龄孕妇进行更好的出生缺陷认知教育,政府出具有效措施,如科普或经济支持,促使县城地区高龄孕妇更容易接受产前诊断,有效预防出生缺陷的发生。

Objective This study aims to analyze the current application status,results,and follow-up of Non-invasive Prenatal Testing(NIPT) in the northern county towns of Linyi,exploring the value and challenges of NIPT in prenatal screening in these areas.Methods Data from 9,892 pregnant women who underwent NIPT at the Central Hospital of Linyi between November 2022 and May 2024 were collected.Diagnostic information from the request forms,NIPT results,and follow-up data were compiled for statistical analysis and discussion.Results The analysis reveals that the population opting for NIPT as a prenatal screening tool in this region primarily includes older women,those voluntarily requesting testing,and those at marginal risk in mid-trimester serological screening.High-risk NIPT results for trisomies 21,18,and 13 were predominantly found in older individuals who missed the mid-trimester serological screening window and those requesting tests voluntarily.Chromosomal abnormalities,both sex and autosomal,were more frequently detected in older pregnant women and others with specific indications.Advanced maternal age pregnant women have a lower adherence to prenatal diagnosis.Communication between healthcare providers and these women is often challenging,and they generally have a lower acceptance of fetal sex chromosome and autosomal abnormalities.Conclusion NIPT is widely used in county towns as an effective prenatal screening method for detecting fetal chromosomal abnormalities.However,the acceptance of prenatal diagnosis following abnormal NIPT results is low among older women in these areas,leading to preventable birth defects.It is recommended that more effective birth defect awareness education be provided to older pregnant women in county towns,alongside governmental measures such as public education or financial support,to facilitate the acceptance of prenatal diagnosis and effectively prevent the occurrence of birth defects.