The Use of Quantitative Fluorescence PCR for Common Aneuploidy Detection in Prenatal Diagnosis

Abstract

Background: The major type of chromosomal abnormality is aneuploidy which has the chance both too many and too few numbers of chromosomes. Trisomy is a common aneuploidy in prenatal diagnostic problem. The gold standard for detection of this abnormality is karyotype analysis. However, this method has many processes that cause time-consuming and wanted the experience of laboratory personnel. All of these issues lead to the increasing of parental anxiety.
Objective: The purpose of this study was to evaluate a molecular method, QF-PCR, to detect common aneuploidy in prenatal diagnosis.
Methods: We performed this assay in 100 prenatal samples. Then, the prenatal DNA samples were extracted and detected for aneuploidy status by QF-PCR. These results were compared with karyotyping results.
Results: 99 of 100 total samples can be interpreted. There were 92 cases with normal and aneuploidy karyotypes had the same result with QF-PCR. Mosaicism could be detected too. In 4 cases of unbalance autosomal rearrangements the QF-PCR results were normal. In 3 cases of marker chromosome, 2 cases were interpreted as normal and other the QF-PCR result was reported to be monosomy X. In the case of pentasomy X, OF-PCR result was reported to be triple X. In one case was inconclusive from maternal cell contamination.

Conclusions: QF-PCR is an alternative method to detect common aneuploidy in prenatal samples. Because there was no false positive result in normal karyotype samples and cases of common aneuploidy showed no false negative result as well.