Title: Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls
Authors: Robberecht, Caroline
Schuddinck, Vicky
Fryns, Jean-Pierre
Vermeesch, Joris # ×
Issue Date: Jul-2009
Publisher: Williams & Wilkins
Series Title: Genetics in Medicine vol:11 issue:9 pages:646-654
Abstract: PURPOSE:: About 50% of spontaneous abortions are caused by fetal chromosome abnormalities. Identification of these abnormalities helps to estimate recurrence risks in future pregnancies. However, due to culture failures or maternal contamination often no fetal karyotype can be obtained. Array comparative genomic hybridization can overcome some of these limitations. METHODS:: In this study, we analyzed 103 miscarriages by both T-banding and 1-Mb array comparative genomic hybridization. RESULTS:: We found an overall abnormality rate of 35% (34 of 96). In a comparison of 70 samples that were successfully analyzed by both techniques, 54 (77%) had identical karyotypes (42 normal, 12 abnormal) and 16 (23%) cases showed discrepancies. Most of these differences were due to maternal contamination during cell culture, which resulted erroneously in a normal female karyotype. CONCLUSION:: These results demonstrate the improved diagnostic yield of array comparative genomic hybridization as compared with conventional karyotyping. Therefore, we implemented this technique in the diagnostic workup of miscarriages.
ISSN: 1098-3600
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
Clinical Genetics Section (-)
× corresponding author
# (joint) last author

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