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

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 G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007.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.


Distribution of abnormal aCGH results. VOUS (variant of unknown significance)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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

Fig5: Distribution of abnormal aCGH results. VOUS (variant of unknown significance)

Mentions: One thousand nine hundred-eleven samples that were normal by QF-PCR were tested by aCGH (from a total of 2718 suitable samples in this period). All chromosome imbalances >1 Mb in size were reported. In addition, imbalance <1 Mb in size associated with a fully penetrant phenotype or associated with fetal abnormalities were reported. Using these criteria, chromosome imbalance was detected and reported for 260 samples (9.6% of 2718 samples). See Fig. 5.Fig. 5


Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data
Distribution of abnormal aCGH results. VOUS (variant of unknown significance)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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

Fig5: Distribution of abnormal aCGH results. VOUS (variant of unknown significance)
Mentions: One thousand nine hundred-eleven samples that were normal by QF-PCR were tested by aCGH (from a total of 2718 suitable samples in this period). All chromosome imbalances >1 Mb in size were reported. In addition, imbalance <1 Mb in size associated with a fully penetrant phenotype or associated with fetal abnormalities were reported. Using these criteria, chromosome imbalance was detected and reported for 260 samples (9.6% of 2718 samples). See Fig. 5.Fig. 5

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&nbsp;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&nbsp;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 &gt;1Mb and fully penetrant clinically significant imbalance &lt;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.