Journal
PRENATAL DIAGNOSIS
Volume 26, Issue 5, Pages 454-461Publisher
WILEY
DOI: 10.1002/pd.1437
Keywords
trisomy 16; mosaicism; prenatal diagnosis; FISH
Categories
Ask authors/readers for more resources
Objectives To report five cases of mosaic trisomy 16 with variable outcomes in the context of the literature on mosaic trisomy 16. Complications in these cases include preeclampsia, IUGR, fetal anomalies, and death, with no predictable pattern. Methods Observation of five new cases and statistical analysis of 125 reported cases of mosaic trisomy 16 with prenatal detection and outcome data. Results (1) IUGR, premature delivery, and/or physical anomalies are observed commonly, even when the trisomy is thought to be confined to the placenta; (2) Level 11 mosaicism for trisomy 16 in amniotic fluid may reflect a true mosaic state with phenotypic consequences; (3) FISH is more sensitive than traditional cytogenetics in detecting mosaicism in all tissue types examined; (4) hCG levels can be extremely elevated, and MS-AFP levels are often elevated; and (5) Uniparental disomy (UPD) increases the rates of IUGR and physical anomalies in CPM cases. Conclusion While there is no obvious mosaic trisomy 16 syndrome, IUGR and heart defects commonly occur, even if the mosaicism appears to be confined to the placenta. A completely normal outcome occurs only in about 20% of the cases; however, complications can often be limited to prematurity, small-for-gestational-age infants, and/or minor or surgically reparable birth defects. Copyright (C) 2006 John Wiley & Sons, Ltd.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available