AI Article Synopsis
- Trisomy 16 (T16) is a common chromosome abnormality at conception, often leading to adverse outcomes.
- A study analyzed 14 high-risk cases identified by noninvasive prenatal testing (NIPT), confirming 5 true positives and 9 false positives for T16.
- The findings suggest that while NIPT is an effective early screening tool, false positives can occur, and pregnancies with confined placental mosaicism may face increased risks like low birth weight and preterm delivery.
Article Abstract
Background: Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes.
Methods: A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases in the analysis involved prenatal diagnosis, karyotyping and chromosomal microarray analysis.
Case Reports: NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries.
Conclusion: NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454120 | PMC |
| http://dx.doi.org/10.1186/s13039-021-00559-w | DOI Listing |
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