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triSure Traditional NIPT
Aneuploidies and microdeletion
Scope of different triSure packages based on American College of Medical Genetics and Genomics (ACMG) guideline (1)
Who should consider Traditional NIPT test?
- All pregnant women
ACMG Recommendation(1): At This Time, There Is Insufficient Evidence to Recommend Routine Screening for CNVs Other Than 22q11.2 Deletions (No Recommendation, Owing to Lack of Clinically Relevant Evidence and Validation)
Testing Scopes:
- Fetal Trisomies 21, 18, 13
- Fetal SCA (Sex Chromosome Aneuploidy): 45 Turner Syndrome (XO), 47 Triple X Syndrome (XXX), 47 Klinefelter Syndrome (XXY, XXXY), 47 Jacobs Syndrome (XYY)
- 22q11.2 Deletions (Di George Syndrome)
- Rare Autosomal Trisomies: 1-12, 12-17, 19-20, 22
References:
- (1) Dungan JS, et al.; ACMG Board of Directors. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023.
- (2) Nguyễn, P. T. V., et al. Establishment and assessment of a non-invasive prenatal testing protocol for di george syndrome. Vietnam Medical Journal. 2024.
- (3) Petersen, et al. Positive Predictive Value Estimates for Cell-Free Noninvasive Prenatal Screening from Data of a Large Referral Genetic Diagnostic Laboratory. American Journal of Obstetrics and Gynecology. 2017.
- (4) Avram et al. Cell-Free Fetal DNA Screening for Detection of Microdeletion Syndromes: A Cost-Effectiveness Analysis. The Journal of Maternal-Fetal & Neonatal Medicine. 2021.
