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[Implementation of arrays in first trimester prenatal diagnosis].
Ceska Gynekol 2015; 80(3):176-80CG

Abstract

OBJECTIVE

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

DESIGN

Retrospective study.

SETTING

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.

RESULTS

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%).

CONCLUSION

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.

Authors

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Pub Type(s)

Journal Article

Language

cze

PubMed ID

26087211

Citation

Trková, M, et al. "[Implementation of Arrays in First Trimester Prenatal Diagnosis]." Ceska Gynekologie, vol. 80, no. 3, 2015, pp. 176-80.
Trková M, Putzová M, Bečvářová V, et al. [Implementation of arrays in first trimester prenatal diagnosis]. Ceska Gynekol. 2015;80(3):176-80.
Trková, M., Putzová, M., Bečvářová, V., Horáček, J., Soldátová, I., Krautová, L., ... Stejskal, D. (2015). [Implementation of arrays in first trimester prenatal diagnosis]. Ceska Gynekologie, 80(3), pp. 176-80.
Trková M, et al. [Implementation of Arrays in First Trimester Prenatal Diagnosis]. Ceska Gynekol. 2015;80(3):176-80. PubMed PMID: 26087211.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Implementation of arrays in first trimester prenatal diagnosis]. AU - Trková,M, AU - Putzová,M, AU - Bečvářová,V, AU - Horáček,J, AU - Soldátová,I, AU - Krautová,L, AU - Sekowská,M, AU - Hodačová,J, AU - Hnyková,L, AU - Hlavová,E, AU - Smetanová,D, AU - Stejskal,D, PY - 2015/6/19/entrez PY - 2015/6/19/pubmed PY - 2015/10/17/medline KW - CVS KW - QF-PCR KW - array. KW - karyotype KW - prenatal diagnosis SP - 176 EP - 80 JF - Ceska gynekologie JO - Ceska Gynekol VL - 80 IS - 3 N2 - OBJECTIVE: Array technology in chorionic villus sampling (CVS) - analysis of clinical benefit and a proposal of a more effective 1st trimester genetic testing policy. DESIGN: Retrospective study. SETTING: 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. RESULTS: 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%). CONCLUSION: 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. SN - 1210-7832 UR - https://www.unboundmedicine.com/medline/citation/26087211/[Implementation_of_arrays_in_first_trimester_prenatal_diagnosis]_ L2 - https://www.prolekare.cz/linkout/52421 DB - PRIME DP - Unbound Medicine ER -