Clinical Utility of MLPA and QF-PCR Techniques in the Genetic Testing of Miscarriages

Most common reasons for pregnancy loss are chromosomal anomalies of the fetus. They are found in as much as half of the miscarriages. The standard technique for assessment of chromosomal abnormalities in spontaneously aborted fetuses has been karyotyping, however, it needs cell culture which is the most vulnerable element of a diagnostic process. At present, there are a number of molecular methods, which skip the necessity of cell culture. In this study, we assess retrospectively the diagnostic yield of two commonly used molecular techniques (MLPA and QF-PCR) for aneuploidy detection in miscarriages. A total of 674 samples were analyzed. The QF-PCR assay for chromosomes 13, 15, 16, 18, 21, 22, X and Y was used. Two subtelomeric and subcentromeric probe kits covering all chromosomes were used in MLPA tests. In QF-PCR test, chromosomal abnormalities were found in 49.5% of cases. Trisomies constituted 25.7%, monosomies X— 12.9% and triploidies—10.9%. In the MLPA series, a total of 55.1% samples turned out to carry a chromosomal aberration. Trisomies were found in 43.2% of all good quality samples, chromosome X monosomies accounted for 13.4% of samples, and triploidies were detected in 11.3%. Both QF-PCR and MLPA methods may be successfully implemented as an alternative for standard karyotype in testing material from spontaneous abortion. QF-PCR has lower sensitivity comparing to MLPA in detecting aneuploidies, however, it is an effective tool for the detection of polyploidies. It should be noted, that using these techniques, the maternal cell contamination should be considered as an important issue.