EVALUATION OF NON-INVASIVE PRENATAL TESTING FROM THE 9TH WEEK OF GESTATION IN SINGLETON PREGNANCIES
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Abstract
Background: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA has high accuracy for common aneuploidies, especially trisomy 13, 18, and 21. In Vietnam, most published studies focused on pregnancies from 10 weeks onward, while data for 9 weeks 0 days to 9 weeks 6 days remain limited.
Objective: To evaluate the feasibility of NIPT at gestational age from 9 weeks 0 days to 9 weeks 6 days and to analyze the relationship between fetal fraction (FF) and gestational age, maternal age, and body mass index (BMI).
Methods: This retrospective study included 2,192 women with singleton pregnancies who underwent NIPT from April 2023 to November 2024 at the Medical Genetics Laboratory, Military Medical University. Data included maternal age, gestational age, BMI, NIPT results, and amniocentesis results in high-risk cases.
Results: Mean maternal age was 30.56 ± 5.05 years, mean BMI was 21.05 ± 2.01 kg/m², and mean gestational age was 9.26 ± 0.20 weeks. The qualified sample rate was 96.26% (2,110/2,192), mean FF was 15.1 ± 4.74%, and the no-call rate was 3.74% (82/2,192). Gestational age in days showed a weak but significant positive association with FF (β = 0.189; p < 0.001), with an increase of about 0.167 percentage points per additional day. No significant differences in FF were found by maternal age (p = 0.299) or BMI (p = 0.421). The positive predictive values of trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities were 100%, 50%, 25%, and 43.6%, respectively. Conclusion: NIPT from the 9th week of pregnancy is highly feasible and shows good screening performance for common aneuploidies, especially trisomy 21.
Keywords
NIPT, cell-free fetal DNA, fetal fraction, 9th week of gestation, trisomy 13, trisomy 18, trisomy 21, prenatal screening
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References
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