Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction.
OBJECTIVE
Prenatally diagnosed confined placental trisomy is associated with increased risk for intrauterine growth restriction (IUGR) and preeclampsia. However, it is unclear how often this might underlie pregnancy complications. Our objective was to evaluate the frequency and distribution of trisomic cells in placentae ascertained for IUGR and/or preeclampsia.


METHODS
Comparative genomic hybridization was applied to two uncultured biopsies from each of 61 placentae referred with maternal preeclampsia and/or IUGR, 11 cases with elevated maternal serum hCG and/or AFP but no IUGR or preeclampsia, and 85 control placentae.


RESULTS
Trisomy was observed in four placentae among the IUGR group (N = 43) but in no case of preeclampsia in the absence of IUGR (N = 18). Trisomy was observed in 1 of the 11 cases ascertained for abnormal maternal serum screen. Each of these five cases was mosaic and not all sampled sites showed the presence of trisomy. None of the 84 control placentas showed mosaic trisomy, although 1 case of nonmosaic 47,XXX was identified in this group.


CONCLUSIONS
In cases in which diagnosis of the cause of IUGR may provide some benefit, testing should be performed using uncultured cells from multiple placental biopsies for the accurate diagnosis of trisomy mosaicism.
Robinson
Wendy P
WP
Department of Medical Genetics, University of British Columbia, 950 W. 28th Avenue, Vancouver, BC, Canada. wprobins@interchange.ubc.ca
Peñaherrera
Maria S
MS
Jiang
Ruby
R
Avila
Luana
L
Sloan
Jennifer
J
McFadden
Deborah E
DE
Langlois
Sylvie
S
von Dadelszen
Peter
P
D000328:Adult; D001706:Biopsy; D006063:Chorionic Gonadotropin / Q000097:blood; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D005317:Fetal Growth Retardation / Q000097:blood / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006801:Humans; D009030:Mosaicism; D010920:Placenta / Q000473:pathology*; D011225:Pre-Eclampsia / Q000097:blood / Q000235:genetics*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000235:genetics* / Q000473:pathology
D006063:Chorionic Gonadotropin