Premium
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection
Author(s) -
Wyandt Herman E.,
Maker Thomas,
Fisher Nancy L.,
Patil Shivanand R.,
Osella Peter,
Luthardt Frederick W.,
Kawada Charles,
Williamson Roger,
Milunsky Aubrey
Publication year - 1990
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970100904
Subject(s) - amniocentesis , trisomy , fetus , prenatal diagnosis , aneuploidy , obstetrics , autopsy , pregnancy , medicine , pathology , biology , gynecology , genetics , chromosome , gene
We report three cases of amniocentesis in which mosaicism for trisomy 12 was detected in two or more independent cultures. The parents elected to terminate the pregnancy in all three cases. Follow‐up studies in two of the cases confirmed the mosaicism in fetal tissues (in subcutaneous tissue in one case; in fetal lung in the other), but not in blood. No fetal anomalies were evident by ultrasound or at autopsy. These results along with other reported cases demonstrate the difficulty in counselling for mosaic trisomy 12.