Clinical Implications of Noninvasive Prenatal Testing Failures Due to Low Fetal Fraction: Associations With Adverse Maternal and Fetal Outcomes.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-07-23 DOI:10.1002/pd.6852

Yuan Ren, Na Hao, Jiazhen Chang, Yulin Jiang, Qingwei Qi, Xiya Zhou, Jingwen Zhou, Yingna Song, Juntao Liu

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引用次数: 0

Abstract

Objective: To identify risk factors associated with noninvasive prenatal testing (NIPT) failures due to a low fetal fraction (LFF, < 4%) and to evaluate appropriate management strategies.

Methods: This was a single retrospective cohort study conducted on consecutive NIPT procedures performed at a national prenatal diagnosis center between April 2016 and June 2022.

Results: Among the 41,693 NIPT procedures conducted at Peking Union Medical College Hospital, 524 cases (1.3%) failed due to LFF. Testing failures were associated with an increased risk of rare fetal chromosomal abnormalities (OR 18.9). Independent risk factors for NIPT failure included antiphospholipid syndrome (OR 19.7), rare fetal chromosomal abnormalities (OR 17.9), body mass index ≥ 25 kg/m² (OR 8.1), low molecular weight heparin administration (OR 7.7), systemic lupus erythematosus (OR 6.1), and dichorionic twins (OR 2.1). NIPT failure was also associated with a higher incidence of gestational hypertension (2.9% vs. 0.7%; OR 4.0), preeclampsia (9.1% vs. 1.0%; OR 10.4), gestational diabetes mellitus (26.0% vs. 11.8%; OR 2.6), fetal growth restriction (4.7% vs. 0.9%; OR 5.4), spontaneous abortion (2.4% vs. 0.6%; OR 4.1), and preterm birth (10.0% vs. 3.6%; OR 3.0).

Conclusions: Pregnancies with NIPT failures are at a heightened risk for fetal chromosomal abnormalities and placenta-mediated complications, highlighting the need for enhanced monitoring and individualized management during perinatal care.

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低胎儿分数导致的无创产前检测失败的临床意义：与不良母婴结局的关联。

目的：确定低胎分数（LFF）导致的无创产前检查（NIPT）失败的相关危险因素。方法：这是一项单一回顾性队列研究，对2016年4月至2022年6月在国家产前诊断中心连续进行的NIPT检查进行了研究。结果：在北京协和医院实施的41693例NIPT手术中，524例（1.3%）因LFF失败。检测失败与罕见胎儿染色体异常的风险增加相关（OR 18.9）。NIPT失败的独立危险因素包括抗磷脂综合征（OR 19.7）、罕见胎儿染色体异常（OR 17.9）、体重指数≥25kg /m2 （OR 8.1）、低分子肝素给药（OR 7.7）、系统性红斑狼疮（OR 6.1）和双绒毛膜双胞胎（OR 2.1）。NIPT失败也与较高的妊娠高血压发生率相关(2.9% vs. 0.7%；OR 4.0)，子痫前期(9.1%比1.0%；OR 10.4)，妊娠期糖尿病(26.0% vs. 11.8%；OR 2.6)，胎儿生长受限(4.7% vs. 0.9%；OR 5.4)，自然流产(2.4% vs. 0.6%；OR 4.1)和早产(10.0% vs. 3.6%；或3.0)。结论：NIPT失败的妊娠发生胎儿染色体异常和胎盘介导的并发症的风险增加，突出了在围产期护理中加强监测和个性化管理的必要性。

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