Implementation of arrays in first trimester prenatal diagnosis

Authors: M. Trková;  M. Putzová;  V. Bečvářová;  J. Horáček;  I. Soldátová;  L. Krautová;  M. Sekowská;  J. Hodačová;  L. Hnyková;  E. Hlavová;  D. Smetanová;  D. Stejskal
Authors‘ workplace: Gennet, Centrum lékařské genetiky a reprodukční medicíny, Praha, vedoucí lékař MUDr. D. Stejskal
Published in: Čes. Gynek.2015, 80, č. 3 s. 176-180


Array technology in chorionic villus sampling (CVS) – analysis of clinical benefit and a proposal of a more effective 1st trimester genetic testing policy.

Retrospective study.

Gennet, Center of Medical Genetics and Reproductive Medicine, Prague.

Material and methods:
Total of 913 CVS were performed at Gennet between 2010–2014. All 913 samples were tested by QF-PCR rapid test for aneuploidy of chromosomes 13, 18, 21, X and Y and karyotyping following standard long term culture. Microarray analysis (Illumina HumanCytoSNP12 v2.1) was performed on 179 samples with normal result from both – QF-PCR and karyotyping.

At 229 samples the common chromosomal aneuploidy was detected using rapid QF-PCR (25% from 911 successful rapid tests). Conventional karyotyping revealed 239 unbalanced chromosome aberrations (27% from 897 successful cultivations). 227/239 (95%) positive karyotypes confirmed QF-PCR finding of common aneuploidies. 10 unbalanced chromosome aberrations were not covered by rapid QF-PCR test. Microarray analysis of samples with normal result from both– QF-PCR and karyotyping– revealed 13 clinically relevant chromosome aberrations (7.5%).

New policy for chorionic villi testing at Gennet was established. Based on evaluation of the results of karyotyping, array and QF-PCR and analysis of published data we decided to replace karyotyping by microarray analysis in all cases of foetuses with normal results from QF-PCR. More effective detection of pathological and clinically relevant chromosome aberrations in examined foetuses is expected.

CVS, prenatal diagnosis, QF-PCR, karyotype, array


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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine

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