Journal of Family and Reproductive Health 2009. 3(2):51-54.

Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population
Habib Nasiri, Jila Dastan, Mohammad Hasan Seifi, Noori Dalooi, Saeed Reza Ghaffari


Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR) markers has more potential for high throughput diagnosis. Marker heterozygosity in short tandem repeats (STR) is of critical importance in the clinical applicablity of this method.
Materials and Methods: Different STR markers on chromosomes 13, 18, 21, X and Y  were analysed from  amniotic samples to detect related disorders such as Down, Edward, Patau,  Klinefelter sundromes , as well as sex chromosomes numerical abnormalities .
Results: In our population some markers (D18S976, DXS6854, D21S11, and D21S1411) showed alleles with sizes out of expected ranges. But others occupied narrower range of predicted distribution. Most markers have enough heterozygosity (66.3-94.7) to be used for prenatal diagnosis. Furthermore, results obtained from full karyotype for all samples were in concordance with results of molecular cytogenetic testing.
Conclusion: It is concluded that, in urgent situations, if proper markers used, molecular cytogenetic testing (QF-PCR) could be a useful method for rapid prenatal diagnosis (PND) in populations with high rate of consanguinity such as Iran.  


Prenatal diagnosis; Chromosomal aberration; Short tandem repeat; Heterozygosity; Iranian population

Full Text:



Lewin P, Kleinfinger P, Bazin A , Mossafa H , Szpiro- Tapia S. Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses. Prenat Diagn 2000;20 : 1–6.

Zournatzi V, Daniilidis A, Karidas C, Tantanasis T, Loufopoulos A, Tzafettas J. A prospective two years study of first trimester screening for Down Syndrome. Hippokratia 2008;12:28-32.

Yoon HR, Park YS, Kim YK. Rapid prenatal detection of down and edwards syndromes by fluorescent polymerase chain reaction with short tandem repeat markers. Yonsei Med J 2002; 43:557-66.

Lee MH, Ryu HM, Kim DJ, Lee BY, Cho EH, Yang JH, et al. Rapid prenatal diagnosis of Down syndrome using quantitative fluorescent PCR in uncultured amniocytes. J Korean Med Sci 2004; 19:341-4.

Mann K, Petek E, Pertl B. Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR. Methods Mol Biol 2008;444:71-94

Cirigliano V, Voglino G, Ordoñez E, Marongiu A, Paz Cañadas M, Ejarque M, et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience. Prenat Diagn 2009; 29:40-9.

Quaife R, Wong LF, Tan SY, Chua WY, Lim SS, Hammersley CJ, et al. QF-PCR-based prenatal detection of aneuploidy in a Southeast Asian population. Prenat Diagn 2004; 24:407-13.

Andonova S, Vazharova R, Dimitrova V, Mazneikova V, Toncheva D, Kremensky I. Introduction of the QFPCR analysis for the purposes of prenatal diagnosis in Bulgaria-estimation of applicability of 6 STR markers on chromosomes 21 and 18. Prenat Diagn 2004;24:202-8.

Choueiri MB, Makhoul NJ, Zreik TG, Mattar F, Adra AM, Eid R, Mroueh AM, Zalloua PA. The consanguinity effect on QF-PCR diagnosis of autosomal anomalies. Prenat Diagn 2006; 26:409-14.

Cirigliano V, Voglino G, Ordonez E, Marongiu A, Paz Canadas M, Ejarque M, et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience.Prenat Diagn 2009;29:40-9.


  • There are currently no refbacks.

Creative Commons Attribution-NonCommercial 3.0

This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.