Quantitatív fluoreszcens polimeráz láncreakció val kimutatható magzati chromosoma-rendellenességek

Translated title of the contribution: Prenatal diagnosis of aneuploidy using QF-PCR

Bán Zoltán, Nagy Bálint, Papp Csaba, Oroszné Nagy Judit, Lázár Levente, Nagy Gyula Richárd, Papp Zoltán

Research output: Contribution to journalReview article


Traditional karyotyping is the gold standard of the prenatal detection of chromosomal abnormalities, however it is time and work consuming and also sensitive to environmental factors. The increasing need for prenatal diagnosis puts a great burden on the cytogenetic laboratories and there is a growing need for a rapid, robust and cost-effective method. The quantitative fluorescence polymerase chain reaction (QF-PCR) meets these requirements, but it has its limitation, as unfortunately it cannot detect some fetal chromosomal disorders of clinical importance. The aim of this study was to test the reliability of QF-PCR for prenatal diagnosis of the common aneuploidies and to determine the indications where QF-PCR can safely be applied as a stand-alone test in prenatal diagnosis. Concomitant QF-PCR and karyotyping of 4875 amniotic fluid samples were performed. The results of QF-PCR were compared to those obtained by the karyotyping. We compared the presence of chromosomal abnormalities detectable and undetectable by QF-PCR with respect of the indication of the invasive fetal sampling. 98.3% of the QF-PCR results were informative without false-negative and false-positive results. The rate of heterozygousity was over 80% in all investigated STR markers in the Hungarian population. 15% of the clinically significant chromosomal abnormalities detected by karyotyping were undetected by QF-PCR. In the majority of these cases the indication for amniocentesis was a structural abnormality found upon prenatal ultrasound examination. We applied a reliable, simple and cost-effective QF-PCR protocol using 7 STRs for the prenatal diagnosis of common fetal aneuploidies. All but 2 cases of chromosomal abnormalities of clinical significance were detected in case of maternal age over 35 years, positive serum screening results and positive family history of aneuploidy. The highest number of chromosomal abnormalities, non-detectable by QF-PCR were seen in cases of structural fetal abnormalities, detected by ultrasound. Prenatal QF-PCR diagnosis for trisomies 21, 18, 13 and sex chromosomal anomalies is a reliable alternative to cytogenetic analysis of fetal samples if the indication of sampling is advanced maternal age, positive serum screening results and positive family history of aneuploidy. In cases of structural fetal abnormalities detected by ultrasound, however the application alone should carefully be considered. If a parent is a known carrier of a balanced translocation, prenatal karyotyping should be performed.

Translated title of the contributionPrenatal diagnosis of aneuploidy using QF-PCR
Original languageHungarian
Pages (from-to)203-209
Number of pages7
JournalMagyar Noorvosok Lapja
Issue number3
Publication statusPublished - Jun 16 2006

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynaecology

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