Premium
Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype
Author(s) -
Liao Jun,
Sathanoori Malini,
Yatsenko Svetlana A.,
Hu Jie,
Kochmar Sally J.,
Hoffner Lori,
Hogge W. Allen,
Surti Urvashi
Publication year - 2012
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.3977
Subject(s) - amniocentesis , chorionic villus sampling , chorionic villi , karyotype , prenatal diagnosis , trisomy , chromosome , pregnancy , biology , medicine , genetics , obstetrics , gynecology , fetus , gene
Objective To summarize the pregnancy outcomes of cases with mosaicism for chromosome 10q11.2 deletion detected by chorionic villus sampling (CVS) and determine whether extensive cytogenetic work‐up and follow‐up amniocentesis are necessary in such cases. Methods CVS was performed at 10–12 weeks of gestation. Chromosome analysis of chorionic villi was performed by standard G‐banding techniques. Results Mosaicism of chromosome 10q11.2 deletion was observed in 24 out of 6063 CVS cases (0.39%). A common fragile site, FRA10G is located at the breakpoint region. The level of mosaicism ranged from 4% to 25%. No evidence of mosaic 10q11.2 deletion was found in follow‐up amniocentesis, maternal peripheral blood cells, or from cytogenetic studies of other pregnancies from the same group of patients. All these cases resulted in the live birth of normal healthy infants. Conclusion The presence of del(10)(q11.2) mosaicism in chorionic villus specimens most likely represents an in vitro culture artifact due to FRA10G fragile site in this region without any clinical consequences. If ultrasound results are normal, it is not necessary to perform follow‐up amniocenteses and additional laboratory work‐up for such cases. © 2012 John Wiley & Sons, Ltd.