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Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data

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ABSTRACT

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 G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007.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. Here we describe the results from the last 5 years of service.

Methods: Fetal tissue samples and products of conception were tested using QF-PCR which will detect aneuploidy for chromosomes 13, 14, 15, 16, 18, 21, 22, X and Y. Samples that were normal were then tested by aCGH and all imbalance >1Mb and fully penetrant clinically significant imbalance <1Mb was reported.

Results: QF-PCR analysis identified aneuploidy/triploidy in 25.6% of samples. aCGH analysis detected imbalance in a further 9.6% of samples; this included 1.8% with submicroscopic imbalance and 0.5% of uncertain clinical significance. This approach has a failure rate of 1.4%, compared to 30% for G-banded chromosome analysis.

Conclusions: This efficient QF-PCR/aCGH strategy has a lower failure rate and higher diagnostic yield than karyotype or MLPA strategies; both findings are welcome developments for couples with recurrent miscarriage.

No MeSH data available.


Quarterly POC and fetal tissue samples received by the laboratory
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Fig2: Quarterly POC and fetal tissue samples received by the laboratory

Mentions: In the five year period April 2011 to March 2016, 3805 samples, including samples classed as ‘unsuitable’ were received. Figure 2 shows samples numbers received per quarter between April 2011 and March 2016. Period 1 (April 11 - March 12, n = 447) was prior to the implementation of the RCOG guidelines, period 2 (April 12 – March 13, n = 634) was the first year of the new referral criteria and was seen as a consolidation period, whilst for periods 3 (n = 757), 4 (n = 940) and 5 (n = 1027) all referral centres were expected to be referring samples in line with the new RCOG guidelines. This correlated with an increase in sample numbers of 130% between periods 1 and 5.Fig. 2


Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data
Quarterly POC and fetal tissue samples received by the laboratory
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC5382376&req=5

Fig2: Quarterly POC and fetal tissue samples received by the laboratory
Mentions: In the five year period April 2011 to March 2016, 3805 samples, including samples classed as ‘unsuitable’ were received. Figure 2 shows samples numbers received per quarter between April 2011 and March 2016. Period 1 (April 11 - March 12, n = 447) was prior to the implementation of the RCOG guidelines, period 2 (April 12 – March 13, n = 634) was the first year of the new referral criteria and was seen as a consolidation period, whilst for periods 3 (n = 757), 4 (n = 940) and 5 (n = 1027) all referral centres were expected to be referring samples in line with the new RCOG guidelines. This correlated with an increase in sample numbers of 130% between periods 1 and 5.Fig. 2

View Article: PubMed Central - PubMed

ABSTRACT

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. Here we describe the results from the last 5 years of service.

Methods: Fetal tissue samples and products of conception were tested using QF-PCR which will detect aneuploidy for chromosomes 13, 14, 15, 16, 18, 21, 22, X and Y. Samples that were normal were then tested by aCGH and all imbalance >1Mb and fully penetrant clinically significant imbalance <1Mb was reported.

Results: QF-PCR analysis identified aneuploidy/triploidy in 25.6% of samples. aCGH analysis detected imbalance in a further 9.6% of samples; this included 1.8% with submicroscopic imbalance and 0.5% of uncertain clinical significance. This approach has a failure rate of 1.4%, compared to 30% for G-banded chromosome analysis.

Conclusions: This efficient QF-PCR/aCGH strategy has a lower failure rate and higher diagnostic yield than karyotype or MLPA strategies; both findings are welcome developments for couples with recurrent miscarriage.

No MeSH data available.