A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome.
OBJECTIVE
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.
Roberts
Eileen
E
Regional Genetics Laboratories, Birmingham Women's Hospital NHS Trust, Edgbaston, Birmingham B15 2TG, UK. eileen.roberts@bwhct.nhs.uk
Dunlop
J
J
Davis
G S
GS
Churchill
D
D
Davison
E V
EV
D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*