Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort Study of 40,716 Pregnancies.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-09-29 DOI:10.1002/pd.6900

Kayono Yamamoto, Nobuhiro Suzumori, Kiyonori Miura, Takahiro Yamada, Yoshimasa Kamei, Hideaki Sawai, Haruka Hamanoue, Osamu Samura, Seiji Wada, Jun Murotsuki, Kiyotake Ichizuka, Reina Komatsu, Yukiko Katagiri, Hiroko Morisaki, Setsuko Nakayama, Kazuya Mimura, Yuko Matsubara, Yoko Okamoto, Kazuhisa Maeda, Shun Yasuda, Akinori Ida, Mika Ito, Hiromi Hayakawa, Arisa Fujiwara, Nahoko Shirato, Tatsuko Ishii, Haruhiko Sago, Akihiko Sekizawa

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引用次数: 0

Abstract

Objective: This study aimed to investigate the association between fetal fraction (FF) on non-invasive prenatal testing (NIPT) and pregnancy-related complications using a large sample to support improved prenatal management.

Methods: This retrospective cohort study included women with singleton pregnancies and negative NIPT results between January 2015 and March 2022 as part of the Japan Multicenter Study. Chi-square tests and binary logistic regression analyses were used to assess the association between FF and pregnancy-related complications.

Results: A total of 40,716 responses were analyzed. No significant association was found between FF and placental abruption (χ² (1) = 2.84, p = 0.09). Women in the low FF group (FF < 10.27%, < 25th percentile) had higher risks of fetal demise, adjusted OR = 1.79, 95% CI [1.31, 2.43]), preterm birth (adjusted OR = 1.63, 95% CI [1.30, 2.06]), fetal growth restriction (FGR) (adjusted OR = 1.50, 95% CI [1.10, 2.05]), and hypertensive disorders of pregnancy (HDP) (adjusted OR = 1.44, 95% CI [1.24, 1.66]). No significant differences were observed for gestational diabetes mellitus (GDM) (adjusted OR = 1.13, 95% CI [0.99, 1.30], p = 0.081).

Conclusion: Low FF on NIPT is associated with an increased risk of several pregnancy complications, highlighting the need for careful management.

查看原文本刊更多论文

低细胞游离DNA胎儿分数在无创产前检测中的临床意义：40,716例妊娠的回顾性队列研究

目的：本研究旨在通过大样本研究胎儿分数（FF）在无创产前检查（NIPT）和妊娠相关并发症之间的关系，以支持改进产前管理。方法：本回顾性队列研究纳入了2015年1月至2022年3月期间NIPT阴性的单胎妊娠妇女，作为日本多中心研究的一部分。采用卡方检验和二元logistic回归分析评估FF与妊娠相关并发症的相关性。结果：共分析40,716份回复。FF与胎盘早剥无显著相关性（χ2 (1) = 2.84, p = 0.09）。结论：NIPT的低FF与几种妊娠并发症的风险增加有关，强调了谨慎管理的必要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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