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[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases].
Ginekol Pol 2015; 86(9):694-9GP

Abstract

The aim of the study was to assess whether commercial kit QF-PCR can be used as the only method for rapic prenatal dia gnosis of chromosomes 13, 18, 21, X and Y aneuploidies, omitting cell culture and complete cyt6genetik analysis of fetal chromosomes.

MATERIAL AND METHODS

DNA from amniocytes (94 cases) and trophoblast cells (6 cases) was analyzed witt QF-PCR according to the manufacturer's protocol. The obtained products were separated using ABI 310 Genetic Analyzer and the resulting data were analyzed using GeneMarker software.

RESULTS

The results of QF-PCR were obtained in 95 out of 100 cases (95%). Abnormalities were found in 28 casea (29.5%). All these results were confirmed in subsequent cytogenetic analysis. Normal results were obtained in 62 patients (70.5%). However in that group, we found three chromosomal aberrations other than those analyzed b3 QF-PCR. Additionally two abnormal and three normal karyotypes were found in patients with inconclusive QF-POF results.

CONCLUSIONS

QF-PCR is a fast and reliable tool for chromosomal aneuploidy analysis and can be used as the only method without a full analysis of the karyotype, but only in cases of suspected fetal 13, 18, 21 trisomy or numerica aberrations of X chromosome. In other cases, fetal karyotype analysis from cells obtained after cell culture should be offered to the patient.

Authors

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Pub Type(s)

Journal Article

Language

pol

PubMed ID

26665572

Citation

Łaczmańska, Izabela, et al. "[Rapid Diagnosis of the Most Common Fetal Aneuploidies With the QF-PCR Method--a Study of 100 Cases]." Ginekologia Polska, vol. 86, no. 9, 2015, pp. 694-9.
Łaczmańska I, Gil J, Stembalska A, et al. [Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases]. Ginekol Pol. 2015;86(9):694-9.
Łaczmańska, I., Gil, J., Stembalska, A., Makowska, I., Kozłowska, J., Skiba, P., ... Sąsiadek, M. M. (2015). [Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases]. Ginekologia Polska, 86(9), pp. 694-9.
Łaczmańska I, et al. [Rapid Diagnosis of the Most Common Fetal Aneuploidies With the QF-PCR Method--a Study of 100 Cases]. Ginekol Pol. 2015;86(9):694-9. PubMed PMID: 26665572.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases]. AU - Łaczmańska,Izabela, AU - Gil,Justyna, AU - Stembalska,Agnieszka, AU - Makowska,Izabela, AU - Kozłowska,Joanna, AU - Skiba,Paweł, AU - Czemarmazowicz,Halina, AU - Pesz,Karolina, AU - Slęzak,Ryszard, AU - Smigiel,Robert, AU - Jakubiak,Aleksandra, AU - Doraczyńska-Kowalik,Anna, AU - Sąsiadek,Maria M, PY - 2015/12/16/entrez PY - 2015/12/17/pubmed PY - 2016/1/1/medline SP - 694 EP - 9 JF - Ginekologia polska JO - Ginekol. Pol. VL - 86 IS - 9 N2 - UNLABELLED: The aim of the study was to assess whether commercial kit QF-PCR can be used as the only method for rapic prenatal dia gnosis of chromosomes 13, 18, 21, X and Y aneuploidies, omitting cell culture and complete cyt6genetik analysis of fetal chromosomes. MATERIAL AND METHODS: DNA from amniocytes (94 cases) and trophoblast cells (6 cases) was analyzed witt QF-PCR according to the manufacturer's protocol. The obtained products were separated using ABI 310 Genetic Analyzer and the resulting data were analyzed using GeneMarker software. RESULTS: The results of QF-PCR were obtained in 95 out of 100 cases (95%). Abnormalities were found in 28 casea (29.5%). All these results were confirmed in subsequent cytogenetic analysis. Normal results were obtained in 62 patients (70.5%). However in that group, we found three chromosomal aberrations other than those analyzed b3 QF-PCR. Additionally two abnormal and three normal karyotypes were found in patients with inconclusive QF-POF results. CONCLUSIONS: QF-PCR is a fast and reliable tool for chromosomal aneuploidy analysis and can be used as the only method without a full analysis of the karyotype, but only in cases of suspected fetal 13, 18, 21 trisomy or numerica aberrations of X chromosome. In other cases, fetal karyotype analysis from cells obtained after cell culture should be offered to the patient. SN - 0017-0011 UR - https://www.unboundmedicine.com/medline/citation/26665572/[Rapid_diagnosis_of_the_most_common_fetal_aneuploidies_with_the_QF_PCR_method__a_study_of_100_cases]_ L2 - https://medlineplus.gov/prenataltesting.html DB - PRIME DP - Unbound Medicine ER -