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Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.
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.
Afiliación
  • Rostami P; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. hnajm12@yahoo.com.
  • Valizadegan S; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Ghalandary M; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Mehrjouy MM; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Esmail-Nia G; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Khalili S; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Shahmoradi SS; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Imanian H; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Hadavi V; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Ghaderi-Sohi S; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Almadani N; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Afroozan F; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Kariminejad R; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Najmabadi H; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
Arch Iran Med ; 18(5): 296-303, 2015 May.
Article en En | MEDLINE | ID: mdl-25959911
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Reacción en Cadena de la Polimerasa / Trastornos de los Cromosomas / Cariotipificación / Aneuploidia Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adolescent / Adult / Female / Humans / Middle aged / Pregnancy País/Región como asunto: Asia Idioma: En Revista: Arch Iran Med Año: 2015 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Irán

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Reacción en Cadena de la Polimerasa / Trastornos de los Cromosomas / Cariotipificación / Aneuploidia Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adolescent / Adult / Female / Humans / Middle aged / Pregnancy País/Región como asunto: Asia Idioma: En Revista: Arch Iran Med Año: 2015 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Irán