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Date Published: 28/06/2025
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DOI: https://doi.org/10.56535/jmpm.v50i5.1264
Issue
Vol. 50 No. 5 (2025): TẠP CHÍ Y DƯỢC HỌC QUÂN SỰ SỐ 5 - 2025
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Articles
How to Cite
Đào, T. A., Hồ, S. H., Đặng, T. T., & Nguyễn, D. B. (2025). ĐÁNH GIÁ KẾT QUẢ SÀNG LỌC TRƯỚC SINH KHÔNG XÂM LẤN PHÁT HIỆN SỚM LỆCH BỘI NHIỄM SẮC THỂ THAI TRÊN CÁC THAI PHỤ CÓ NGUY CƠ CAO BẰNG PHƯƠNG PHÁP LÀM GIÀU DNA THAI TỰ DO TRONG MÁU MẸ. Journal of Military Pharmaco-medicine, 50(5), 106-113. https://doi.org/10.56535/jmpm.v50i5.1264

ĐÁNH GIÁ KẾT QUẢ SÀNG LỌC TRƯỚC SINH KHÔNG XÂM LẤN PHÁT HIỆN SỚM LỆCH BỘI NHIỄM SẮC THỂ THAI TRÊN CÁC THAI PHỤ CÓ NGUY CƠ CAO BẰNG PHƯƠNG PHÁP LÀM GIÀU DNA THAI TỰ DO TRONG MÁU MẸ

Thế Anh Đào1,2, Sỹ Hùng Hồ1,3, Tiến Trường Đặng2, Duy Bắc Nguyễn2,
1 Trường Đại học Y Hà Nội
2 Học viện Quân y
3 Bệnh viện Phụ sản Trung ương

Main Article Content

Abstract

EVALUATION OF THE RESULTS OF NON-INVASIVE PRENATAL SCREENING IN EARLY TO DETECT  FETAL ANEUPLOIDIES IN HIGH-RISK PREGNANT WOMEN BY METHOD OF ENRICHMENT FREE FETAL DNA IN THE MOTHER'S BLOOD


Dao The Anh1,3, Dang Tien Trương, Ho Sy Hung1,2, Nguyen Duy Bac3


1 Hanoi Medical University, 2 National Hospital of Obtetrics and Gynecology, Vietnamese Military University.


Summary


Introduction: Today, prenatal screening and diagnosis will help reduce the rate of babies with birth defects and perinatal death. Traditional screening tests have low sensitivity and specificity and a high false-positive rate. Recently, the non-invasive prenatal screening test (NIPT) that analyzes cffDNA (free fetal DNA) in pregnant women's blood has been introduced to help early detect syndromes related to abnormalities in the number of chromosomes in the fetus with high accuracy, simple sample collection process, safe for pregnant women and fetuses. This study aims to evaluate the results of the improved NIPT method that enriches free fetal DNA in maternal blood in screening for some common fetal chromosomal aneuploidies.


Methods: Comparative cross-sectional descriptive study. The study subjects included 200 pregnant women with a high risk of having an aneuploid fetus examined at Hanoi Obstetrics and Gynecology Hospital to collect data, take serum samples to extract cffDNA and conduct analysis using the explication method. In order to detect abnormalities in the new generation, pregnant women undergo amniocentesis for chromosomal analysis after 16 weeks of pregnancy. NIPT. Results will be compared with chromosome results.


Result:  Average maternal age was 29.9 ± 5.7 years, average gestational age was 15.6 ± 3.3 weeks. The rate of patients with common chromosomal disorders T13, T18, T21, Monosomy X, Trisomy sex chromosomes reached 0,2% respectively; 1,9%; 4,8%; 1,9%; 2,2%. The sensitivity of NIPT in detecting trisomy 13, 18, 21 is 93,3%, sex chromosome is 88,99%, specificity is 99%, sex chromosome is 99%.


Conclusion: NIPT is optimized by enriching free fetal DNA in maternal blood is a non-invasive prenatal screening test with high sensitivity and specificity in screening for some common chromosomal aneuploidies such as trisomy 13, 18, 21, and sex chromosomes.

Article Details

Keywords

Fetal chromosomal aneuploidy, NIPT, non-invasive prenatal screening

References

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