母体血浆中胎儿游离DNA的日影响。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-18 DOI:10.1002/pd.6836
Alexander Gamisch, Julia Hess, Maria-Elisabeth Mustafa-Korninger
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引用次数: 0

摘要

目的:胎儿无细胞DNA (cfDNA)的发现彻底改变了通过无创产前检测(NIPT)进行产前诊断的方法,该方法依赖于准确测量母体血浆中的胎儿分数(FF)。虽然FF已知受母体和胎儿因素的影响,但日内节律的影响尚不清楚。本研究调查了FF是否随抽血时间而变化。方法:对2519例接受NIPT的整倍体单胎妊娠的资料进行分析。关键变量包括母亲年龄、BMI、胎龄、胎儿性别和抽血时间(06:50-21:00)。采用Harmony产前IVD检测FF。多元线性回归确定了FF的独立预测因子,而日内变化采用Mann-Whitney U检验和箱线图进行评估。结果:FF与抽血时间呈显著正相关(β = 0.00176 / h, p)。结论:这一新发现显示了FF的日变化,表明优化抽血时间可以提高NIPT的准确性,特别是在边缘病例中。需要进一步的研究来证实临床意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diurnal Effects on the Fraction of Fetal Cell-Free DNA in Maternal Plasma.

Objective: The discovery of fetal cell-free DNA (cfDNA) has revolutionized prenatal diagnostics through non-invasive prenatal testing (NIPT), which depends on accurately measuring the fetal fraction (FF) in maternal plasma. While FF is known to be influenced by maternal and fetal factors, the impact of intraday rhythms remains unclear. This study investigated whether FF varies based on blood draw timing.

Methods: Data from 2519 euploid singleton pregnancies undergoing NIPT were analyzed. Key variables included maternal age, BMI, gestational age, fetal sex, and blood draw timing (06:50-21:00). FF was measured using the Harmony Prenatal IVD Test. Multiple linear regression identified independent predictors of FF, while intraday variation was assessed using Mann-Whitney U tests and boxplots.

Results: FF showed a significant positive relationship with blood draw timing (β = 0.00176 per hour, p < 0.005), with afternoon values approximately 10% higher than morning values (∼0.01 difference). Other predictors included BMI (negative), gestational age (positive), and fetal sex (higher in females). Blood draw timing appeared to be a stronger predictor of FF than gestational age or fetal sex, second only to BMI.

Conclusion: This novel finding demonstrates diurnal variation in FF, suggesting that optimizing blood draw timing could improve NIPT accuracy, particularly in borderline cases. Further research is needed to confirm the clinical implications.

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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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