NON-INVASIVE PRENATAL TESTING (NIPT) AND ITS APPLICATION IN 7015 CASES AT GENTIS INTERNATIONAL LABORATORY

Dương Chí Thành, Nguyễn Văn Huynh, Nguyễn Quang Vinh, Phạm Đình Minh

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Abstract

Birth defects are a global problem that seriously affects quality of life. Genetic abnormalities are the most common cause of birth defects. In recent years, noninvasive prenatal DNA screening is a major step forward in antenatal screening, allowing for earlier screening and reducing the risk of miscarriage due to the use of invasive methods. Applying NIPT technique, we carried out this topic with the aim: To evaluate the correlation rate of chromosomal aneuploidy with factors of gestational age group and maternal serum screening results. Methods: Performing NIPT technique with Truseq Nano DNA LT kit (Illumina) and sequencing on Nextseq 550 (Illumina) for 7015 pregnant women. We obtained the results: the rate of pregnancy with Down was 1.28%, trisomy 18 was 0.24% and trisomy 13 was 0.2%. Conclusion: The incidence of Down is the highest, increasing maternal age increases the risk of children getting Down; Implementation of NIPT technique reduces 98.25% of pregnant women need amniocentesis.

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References

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