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Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.
Case Report
The challenging trisomy 16: a case report
E.N. Kontomanolis1,*, M. Lambropoulou2, A. Georgiadis1, I. Gramatikopoulou2, T.H. Deftereou2, G. Galazios1
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1
Department of Obstetrics & Gynaecology
2
Department of Histology Embryology, Democritus, University, Alexandroupolis (Greece)
Clin. Exp. Obstet. Gynecol. 2012, 39(3), 412–413;
Published: 10 September 2012
Abstract
Background: Trisomy 16 is a very frequent autosomal anomaly accounting for about 2% of first trimester abortions. In most pregnancies the chromosomal genome found in the fetus is also present in the placenta. Confined placental mosaicism is frequently detected in the placental region along with a structurally normal fetus. Case: We present the case of a 39-year-old primigravida with confined placental mosaicism diagnosed with chorionic villus sampling. Amniocentesis showed a normal karyotype (46, XX). Detailed scanning revealed no structural fetal anomalies, but severe oligohydramnios. Conclusion: Diagnosis of trisomy 16 does not necessarily mean that the newborn has anatomical abnormalities.
Keywords
Confined placental mosaicism and fetal anatomy
Triploidy
Trisomy 16
Mosaicism
Oligohydramnios
Chromosome 16