Arch Iran Med. 2015;18(5): 0-0.
PMID: 25959911
Scopus ID: 84928914488
  Abstract View: 647
  PDF Download: 551

Original Article

Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population

Parvin Rostami, Sahar Valizadegan, Maryam Ghalandary, Mana M Mehrjouy, Giti Esmail Nia, Soheila Khalili, Shahrzad Sadat Shahmoradi, Hashem Imanian, Valeh Hadavi, Siavash Ghaderi-Sohi, Navid Almadani, Fariba Afroozan, Ariana Kariminejad, Roxana Kariminejad, Hossein Najmabadi *


 BACKGROUND: We have investigated the efficacy of QF-PCR for the prenatal recognition of common aneuploidy and compared our findings with cytogenetic results in our laboratories.

METHODS: A total of 4058 prenatal samples (4031 amniotic fluid and 27 chorionic villous samples) were analyzed by QF-PCR using several selected STR markers together with amelogenin. Results were compared to those obtained by conventional cytogenetic analysis. 
RESULTS: We detected 139 (3.42%) numerical abnormalities in our subjects by QF-PCR. Concordant QF-PCR and karyotype results were obtained in 4001 (98.59%) of the samples. An abnormal karyotype associated with adverse clinical outcome undetected by QF-PCR was found in 16.66% (n = 28) of samples. Using QF-PCR alone, we were able to detect abnormalities in 98.59% of all referred families; however the karyotyping results improved the detection rate to 99.85% of the referred cases. Individuals with neonatal screening result with 1:10 risk ratio showed 11.29% abnormal karyotype while this number was 2.16% in mothers with risk ratio of 1:250 or less. 
CONCLUSION: In countries where large scale conventional cytogenetic is hampered by its high cost and lack of technical expertise, QF-PCR may be used as the first line of screening for detection of chromosomal abnormalities. We also recommend QF-PCR for all the families that are seeking prenatal diagnosis of single gene disorders aneuploidies screening to be added to their work up.
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ePublished: 01 May 2015
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