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Wenstrom KD Aneuploidy screening: the changing scene. Whiteman DAH and Klinger K Efficiency of rapid in situ hybridization methods for prenatal diagnosis of chromosome abnormalities causing birth defects. Oxford University Press is a department of the University of Oxford.
It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide. Sign In or Create an Account. Sign In. Advanced Search. Search Menu. Article Navigation. Close mobile search navigation Article Navigation. Volume Article Contents Abstract. Fetal karyotype: the gold standard of prenatal diagnosis.
New techniques aimed at diagnosing fetal chromosome anomalies. New clinical attitudes to prenatal diagnosis. Umberto Nicolini , Umberto Nicolini. In this study we evaluated the QF-PCR as a rapid technique for prenatal diagnosis of common aneuploidies. Method: This work was carried out on Sixty amniotic fluid samples taken from patients with one or more of the following indications: Advanced maternal age 3 case , abnormal biochemical markers 6 cases , abnormal ultrasound 12 cases or previous history of abnormal child 39 cases.
No discrepancy was seen between the results of both techniques. Fifty six samples showed normal patterns, three sample showed trisomy 21, successfully detected by both techniques and one sample showed normal pattern by QF-PCR but could not be compared to the cytogenetics due to culture failure, the pregnancy outcome of this case was a normal baby.
Conclusion: Our study concluded that QF-PCR is a reliable technique for prenatal diagnosis of the common chromosomal aneuploidies. You can also search for this author in PubMed Google Scholar. Reprints and Permissions.
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