Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling.
OBJECTIVE
Our purpose was to determine the risk of fetal mosaicism when placental mosaicism is found on chorionic villus sampling.


METHODS
We present a case of mosaic trisomy 22 detected on chorionic villus sampling and subsequently found in the fetus. A review of comprehensive chorionic villus sampling studies with emphasis on follow-up for fetal mosaicism was conducted.


RESULTS
Among 13 studies reviewed, 469 cases of placental mosaicism are presented; fetal mosaicism was found in 50 (10.7%). Factors associated with fetal mosaicism are (1) mosaicism on mesenchymal core culture and (2) type of chromosome abnormality involved--specifically, marker chromosomes (26.7%) and common autosomal trisomies (19.0%). Amniocentesis predicted fetal genotype in 93% to 100% of cases of placental mosaicism, depending on the cell type in which mosaicism was diagnosed.


CONCLUSIONS
Although mosaicism is usually confined to the placenta, the fetus is involved in about 10% cases. Patients should be counseled about this risk and the accuracy of follow-up amniocentesis.
Phillips
O P
OP
Division of Reproduction Genetics, Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38163, USA.
Tharapel
A T
AT
Lerner
J L
JL
Park
V M
VM
Wachtel
S S
SS
Shulman
L P
LP
D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D010920:Placenta / Q000473:pathology*; D011247:Pregnancy; D012307:Risk Factors; D014314:Trisomy