1. A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome
- Author
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D. Churchill, E. V. Davison, E. Roberts, J. Dunlop, and G. S. Davis
- Subjects
Adult ,Male ,medicine.medical_specialty ,Chorionic villus sampling ,Oligohydramnios ,Prenatal diagnosis ,Trisomy ,Biology ,Pregnancy ,Prenatal Diagnosis ,medicine ,Humans ,Confined placental mosaicism ,Genetics (clinical) ,Gynecology ,medicine.diagnostic_test ,Obstetrics ,Mosaicism ,Infant, Newborn ,Pregnancy Outcome ,Obstetrics and Gynecology ,medicine.disease ,Uniparental disomy ,Chorionic Villi Sampling ,Chromosomes, Human, Pair 2 ,Karyotyping ,Amniocentesis ,Female - Abstract
Objectives To add to the knowledge base concerning confined placental mosaicism for trisomy 2. Methods Cytogenetic study of a late CVS referred for hyperechogenic bowel and raised AFP, and cytogenetic and molecular genetic study of a follow-up amniocentesis. Ultrasound monitoring at regular intervals following the CVS result. Results All cells examined from direct and cultured CVS showed a 47,XY,+2 karyotype. Amniocentesis showed a mosaic 47,XY,+2[8]/46,XY[81] karyotype. Uniparental disomy (UPD) studies on the amniotic fluid showed normal biparental inheritance. The pregnancy developed oligohydramnios and IUGR and resulted in a 26-week liveborn male infant with a 46,XY karyotype, which died after 3 days because of complications of severe prematurity. Placental villi post delivery showed only the 47,XY,+2 cell line. Conclusions This case represents a further example of confined placental mosaicism (CPM) for trisomy 2 associated with oligohydramnios, IUGR and poor pregnancy outcome. Copyright © 2003 John Wiley & Sons, Ltd.
- Published
- 2003