Abstract
BackgroundTrisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes.MethodsA 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 reportsNIPT 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.ConclusionNIPT 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.
Highlights
In 2011, noninvasive prenatal testing (NIPT) was introduced to clinical practice, and the application of this technology has continuously evolved
Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery
Researchers have started to focus on sharing their experience with expanded NIPT and discussing the outcomes of rare autosomal trisomies (RAT, defined as any autosomal trisomy other than T21, T18, and T13)
Summary
A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was con‐ ducted. 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 posi‐ tive 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 2 premature deliveries
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