Publications by authors named "C C Donaghue"
Background: Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007. To improve diagnostic yield and efficiency we have now updated our testing strategy to a more comprehensive QF-PCR assay followed by array CGH.
View Article and Find Full Text PDFObjective: To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre.
Methods: QF-PCR analysis using a single assay containing 17 microsatellite markers was applied to all prenatal samples for the identification of trisomies 13, 18 and 21 and triploidy.
Background: Array CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of parental samples to determine inheritance and thus assess the clinical significance of the abnormality. Here we describe an MLPA-based strategy for the follow-up of abnormal aCGH results.
View Article and Find Full Text PDFArticle Synopsis
- Uniparental disomy (UPD) for chromosome 14 can lead to various phenotypes based on whether the chromosome is inherited from the mother or father, particularly linked to the distal region of the long arm.
- A case of a preterm female infant with paternal UPD14 (upd(14)pat) revealed congenital issues like thoracic deformities and multiple abnormalities, aligning with previous reports on similar genetic conditions.
- The study involved genetic analysis, showing UPD in specific markers related to an imprinting cluster on chromosome 14, leading to a better understanding of the relationship between gene expression, methylation patterns, and resulting clinical features in UPD cases.
Objective: To analyse the results of the first 2 years of a QF-PCR stand-alone testing strategy for the prenatal diagnosis of aneuploidy in the London region and to determine the advantages and disadvantages of this policy.
Methods: A review of the results of 9737 prenatal samples received for exclusion of chromosome abnormalities. All samples were subjected to QF-PCR testing for common aneuploidies but only samples fulfilling specific criteria subsequently had a full karyotype analysis.