Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

• Published in: Ginekologia polska 2015-09, Vol.86 (9), p.694-699
• Main Authors: Łaczmańska, Izabela, Gil, Justyna, Stembalska, Agnieszka, Makowska, Izabela, Kozłowska, Joanna, Skiba, Paweł, Czemarmazowicz, Halina, Pesz, Karolina, Slęzak, Ryszard, Smigiel, Robert, Jakubiak, Aleksandra, Doraczyńska-Kowalik, Anna, Sąsiadek, Maria M
• Format: Article
• Language: Polish
• Subjects: Aneuploidy; Chromosome Disorders - diagnosis; Chromosome Disorders - genetics; Chromosomes, Human, 21-22 and Y; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; DNA - analysis; Female; Humans; Karyotyping - methods; Polymerase Chain Reaction - methods; Pregnancy; Prenatal Diagnosis - methods; Sex Chromosome Disorders - diagnosis; Time Factors; Trisomy - diagnosis; Trisomy 13 Syndrome
• ISSN: 0017-0011
• DOI: 10.17772/gp/59024

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. 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. 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. 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.