PRENATAL SCREENING FOR ANEUPLOIDY IN IRANIAN FAMILIES USING QF-PCR

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ROSTAMI PARVIN; NAJAFI ROSHANAK; VALIZADEGAN SAHAR; GHALANDARI MARYAM; IMANIAN HASHEM; ALMADANI SEYED NAVID; AFROOZAN FARIBA; KEYVANI SOGOL; HEYDARI ROZITA; KARIMINEJAD ARIANA; KARIMINEJAD ROXANA; NAJMABADI HOSSEIN

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Journal: GENETICS IN THE 3RD MILLENNIUM Year:2011 | Volume:9 | Issue:2 Page(s): 2360-2366

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Title

PRENATAL SCREENING FOR ANEUPLOIDY IN IRANIAN FAMILIES USING QF-PCR

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Keywords

QF-PCRQ2

CYTOGENETIC ANALYSISQ2

ANEUPLOIDYQ2

IRANQ2

Abstract

Quantitative fluorescence polymerase chain reaction (QF-PCR) has been introduced in a number of genetic laboratories as an inexpensive, rapid and reliable method for prenatal recognition of ANEUPLOIDY in chromosomes 13, 18, 21, X and Y. We have investigated the efficacy of QF-PCR for the prenatal recognition of common ANEUPLOIDY and compared our findings with cytogenetic results in IRAN. A multiplex PCR involving 15 short tandem repeat (STR) sequences was established for ANEUPLOIDY screening and chromosomal study was performed for all samples as well. Finally, the results obtained from QF-PCR method and CYTOGENETIC ANALYSIS were compared with each other. A total of 425 prenatal samples were analyzed including 393 amniotic fluid and 25 chorionic villus samples (CVS). The following abnormalities were detected in 13 individuals: 6 samples (1.41%) with Down syndrome, 2 samples with Edward syndrome (0.47%), and 3 samples with Patau syndrome, 47, XXY, and 47, XYY. All of the CVS samples were normal. In addition, 2 cases (0.47%) showed triploidy. We were able to detect all the aneuploidies of chromosomes 13, 18, 21, X and Y and this was confirmed by cytogenetic results. Contamination of the fetal specimens by maternal cells was present in 12 out of 425 samples (2.82%) and failed to obtain any results. Additional chromosomal abnormalities were detected in 3 cases by karyotyping: inversion 9, translocation t(9,14) and XX/XY mosaicism. Through the QF-PCR method, we were able to detect abnormalities in 96.47% of all referred families. We recommend the QF-PCR in combination with cytogenetic study to be performed on all prenatal cases to provide a rapid and reliable diagnosis in families at risk for ANEUPLOIDY. We also recommend all the families that are seeking prenatal diagnosis of single gene disorders a QF-PCR to be added to their work up.

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APA: Copy

ROSTAMI, PARVIN, NAJAFI, ROSHANAK, VALIZADEGAN, SAHAR, GHALANDARI, MARYAM, IMANIAN, HASHEM, ALMADANI, SEYED NAVID, AFROOZAN, FARIBA, KEYVANI, SOGOL, HEYDARI, ROZITA, KARIMINEJAD, ARIANA, KARIMINEJAD, ROXANA, & NAJMABADI, HOSSEIN. (2011). PRENATAL SCREENING FOR ANEUPLOIDY IN IRANIAN FAMILIES USING QF-PCR. GENETICS IN THE 3RD MILLENNIUM, 9(2), 2360-2366. SID. https://sid.ir/paper/117236/en

Vancouver: Copy

ROSTAMI PARVIN, NAJAFI ROSHANAK, VALIZADEGAN SAHAR, GHALANDARI MARYAM, IMANIAN HASHEM, ALMADANI SEYED NAVID, AFROOZAN FARIBA, KEYVANI SOGOL, HEYDARI ROZITA, KARIMINEJAD ARIANA, KARIMINEJAD ROXANA, NAJMABADI HOSSEIN. PRENATAL SCREENING FOR ANEUPLOIDY IN IRANIAN FAMILIES USING QF-PCR. GENETICS IN THE 3RD MILLENNIUM[Internet]. 2011;9(2):2360-2366. Available from: https://sid.ir/paper/117236/en

IEEE: Copy

PARVIN ROSTAMI, ROSHANAK NAJAFI, SAHAR VALIZADEGAN, MARYAM GHALANDARI, HASHEM IMANIAN, SEYED NAVID ALMADANI, FARIBA AFROOZAN, SOGOL KEYVANI, ROZITA HEYDARI, ARIANA KARIMINEJAD, ROXANA KARIMINEJAD, and HOSSEIN NAJMABADI, “PRENATAL SCREENING FOR ANEUPLOIDY IN IRANIAN FAMILIES USING QF-PCR,” GENETICS IN THE 3RD MILLENNIUM, vol. 9, no. 2, pp. 2360–2366, 2011, [Online]. Available: https://sid.ir/paper/117236/en

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