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Published on: August 25, 2019
Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort
Kayono Yamamoto1, Nobuhiro Suzumori1, Kiyonori Miura2
1Department of Clinical Genetics, Iwate Medical University School of Medicine, Morioka, Iwate, Japan.
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.

