A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome.

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.

• Authors: Eileen Roberts, J Dunlop, G S Davis, D Churchill, E V Davison
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 23 Issue 7 Pg. 564-5 (Jul 2003) ISSN: 0197-3851 [Print] England
• PMID: 12868084 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2003 John Wiley & Sons, Ltd.

Topics

• Adult
• Amniocentesis
• Chorionic Villi Sampling
• Chromosomes, Human, Pair 2
• Female
• Humans
• Infant, Newborn
• Karyotyping
• Male
• Mosaicism (diagnosis, genetics)
• Pregnancy
• Pregnancy Outcome
• Prenatal Diagnosis
• Trisomy (diagnosis, genetics)