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Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age,
Trinh The Son1, Sang Trieu Tien2, Tran Van Khoa2
1Department of Embryology and Histology, Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam.
Background:
Non-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) is widely used for screening common fetal aneuploidies. Although fetal fraction (FF) increases with gestational age, the feasibility and performance of NIPT in the early first-trimester, particularly before 10 weeks of gestation, remain incompletely defined.
Methods:
This retrospective cohort study included 9,708 singleton pregnancies undergoing first-trimester NIPT between 9 weeks 0 days and 13 weeks 6 days of gestation, which was determined by ultrasound using crown-rump length (CRL) measurement. Participants were stratified into two groups based on gestational age at testing (< 10 weeks and ≥ 10 weeks). Multivariable linear regression was used to assess factors associated with fetal fraction, and multivariable logistic regression was applied to evaluate predictors of no-call results (non-reportable NIPT outcome primarily attributed to fetal fraction <4%), adjusting for maternal age and body mass index (BMI).
Results:
Fetal fraction increased significantly with advancing gestational age. After adjustment for maternal age and BMI, testing performed at ≥ 10 weeks was associated with a higher fetal fraction compared with testing at < 10 weeks (β = 1.58; 95% CI, 1.31 to 1.85; p < 0.001). However, gestational age was not independently associated with the risk of a no-call result (adjusted OR 0.88; 95% CI, 0.68 to 1.16; p = 0.40), and no significant difference in no-call rates was observed between the two gestational age groups (3.78% vs. 3.76%).
Conclusion:
Although fetal fraction increases after 10 weeks of gestation, gestational age is not an independent determinant of no-call results once fetal fraction adequacy is achieved. NIPT performed in the early first-trimester (< 10 weeks of gestation) demonstrates acceptable analytical feasibility and reliable performance, supporting its use for early prenatal screening under appropriate clinical conditions.
