Detection of Fetal Aneuploidies by QF-PCR in Transcervical Cell Samples. (23rd December 2012)

• Record Type: Journal Article
• Authors: Cioni, Riccardo; Bussani, Cecilia; Di Tommaso, Mariarosaria
• Other Names: Hsiao K.-M. Academic Editor.; Radojkovic D. Academic Editor.; Yamamoto A. Academic Editor.
• Is Part Of: ISRN genetics. Volume 2013(2013)
• Publication Date: 2012-12-23
• Subjects: Genetics -- Periodicals; Genetics, Medical; Genetics; Periodicals; Periodicals; Fulltext; Internet Resources; Periodicals; Electronic journals; 576.5
• DOI: 10.5402/2013/810120
• Languages: English
• ISSNs: 2090-8687

Abstract

Abstract : Objective . To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL). Study Design . DNA analysis was performed on cells of seemingly trophoblastic origin isolated from IUL samples collected prior to first trimester termination of pregnancy. The analysis was performed by multiplex QF-PCR, using a panel of 29 polymorphic short tandem repeats (STRs) for the chromosomes X, Y, 21, 13, and 18. Results . The QF-PCR analysis on placental samples revealed that among the three cases studied there were two cases of trisomy 21 and one case of monosomy X; the comparison of peak profiles obtained from IUL, placental, and maternal samples confirmed the diagnosis of aneuploidy in all three cases. Conclusion . This study suggests that the detection of chromosomal aneuploidies in micromanipulated TCC samples can be achieved by QF-PCR amplification of selected highly polymorphic and chromosome specific markers. With respect to standard karyotype, QF-PCR analysis has the limitation that only numerical abnormalities of selected chromosomes can be detected but retains the advantages of being quicker, less expensive, and less lab demanding.