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

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. A total of 4058 prenatal samples (4031 amniotic fluid and 27 chorionic villous samples) were analyzed by QF-PCR using several selected...

Full description

Saved in:
Bibliographic Details
Published inArchives of Iranian medicine Vol. 18; no. 5; p. 296
Main Authors Rostami, Parvin, Valizadegan, Sahar, Ghalandary, Maryam, Mehrjouy, Mana M, Esmail-Nia, Giti, Khalili, Soheila, Shahmoradi, Shahrzad Sadat, Imanian, Hashem, Hadavi, Valeh, Ghaderi-Sohi, Siavash, Almadani, Navid, Afroozan, Fariba, Kariminejad, Ariana, Kariminejad, Roxana, Najmabadi, Hossein
Format Journal Article
LanguageEnglish
Published Iran 01.05.2015
Subjects
Adolescent
Adult
Amniotic Fluid
Aneuploidy
Chromosome Disorders - diagnosis
Female
Humans
Iran
Karyotyping - methods
Middle Aged
Polymerase Chain Reaction - methods
Pregnancy
Prenatal Diagnosis - methods
Young Adult
Iran
Online AccessGet more information
ISSN1735-3947

Cover

More Information
Summary: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. 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. 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. 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.
ISSN:1735-3947