高BMI孕妇NIPT检测时点优化模型研究

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中图分类号：TP301.6 文献标识码：A 文章编号：2096-4706（2026）06-0175-05

Research on Optimization Model for NIPT Testing Timing in Pregnant Women with High BMI

CAO Xian （SchoolofMathematicsand Computer Science，NorthwestMinzu University，Lanzhou 730l24，China）

Abstract：Toimprove theaccuracyofnon-invasive prenatal testing andreduce clinicalrisks for pregnant women with high body massindex，this paper conducts research based on measured NIPTdata.After data cleaning such as GCcontent fltering andgestationalweekformatconversion，itonstructsacorelationmodelbetweenYchromosomeconcentrationandgestational week/BMI using Pearson correlation analysis and multiple linearregression verified byF-test.Itoptimizes BMI grouping and determinestheoptimaltestingtimingcombinedwith K-meansclustering，RandomForestRegression，andoranalysis.Results showthatYchromosomeconcentrationinmalefetuscorrelatespositivelywith gestationalwekandnegativelywithBMI（the model isoverallsignificant），andonlymaternal weightaects thetimetoeachtheYchromosomethreshold.Itcategorizes subjects intothreegroupsbyBMI.Withouterror，theoptimaltimingfallswithinthehigh-riskperiodof13to27weeks.The resultsremainstableaftercontrollng forerror.Itsuggests thatNIPTforpregnant women withhighBMIrequiresstratified testing basedongestationalweek，BMI，andweight.Controllingerorreducesrisk.Future studiescanoptimizethemodelwith multi-regional samples.

Keywords： pregnant woman with high BMI; non-invasive prenatal testing; Ychromosome concentration; optimal testing timing; K-means clustering; Random Forest Regression; testing error control

0 引言

无创产前检测（NIPT）通过母体外周血胎儿游离DNA检测，已成为排查21号、18号、13号染色体非整倍体畸形（如唐氏综合征）的核心产前筛查技术[1]，其结果准确性与检测时点选择直接相关—临床共识明确，男胎Y染色体浓度 ≥4% 是NIPT结果可靠的关键阈值，而检测窗口需平衡“12周内尽早检测”与‘ 13～27 周结果精准”的需求，28周后检测风险显著升高[2-4]。（剩余6109字）