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Detection of mosaicism for primary trisomies in prenatal samples by QF‐PCR and karyotype analysis
Author(s) -
Donaghue Celia,
Mann Kathy,
Docherty Zoe,
Mackie Ogilvie Caroline
Publication year - 2005
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.1086
Subject(s) - trisomy , karyotype , prenatal diagnosis , chorionic villus sampling , aneuploidy , amniocentesis , biology , amniotic fluid , population , genetics , chromosome , fetus , pregnancy , medicine , environmental health , gene
Objectives QF‐PCR can be used to rapidly diagnose primary trisomy in prenatal samples. Our objectives were to estimate the prevalence of primary trisomy mosaicism for chromosomes 13, 18 or 21 in a cohort of prenatal samples, and to compare and contrast the detection of this mosaicism using both QF‐PCR and karyotype analysis. Methods Data was collated from all prenatal samples displaying mosaicism for a primary trisomy between June 2000 and March 2004. Levels of mosaicism were estimated and samples were categorised according to the cell population in which the mosaicism was detected. Results In a total of 8983 samples, 18 samples (0.20%) displaying mosaicism were detected, including trisomy 13 (three samples), trisomy 18 (seven samples), trisomy 21 (seven samples) and mosaic triploidy (one sample). This included 7 amniotic fluid and 11 chorionic villus samples. Mosaicism was detected by QF‐PCR in 12 samples and by karyotype analysis in 8 samples. Conclusions QF‐PCR can detect mosaicism when the abnormal cell line contributes at least 15% of the whole sample. Use of both karyotype and QF‐PCR analysis leads to the detection of more cases of mosaicism than either test alone. Copyright © 2005 John Wiley & Sons, Ltd.