Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies

Allingham-Hawkins, Diane; Chitayat, David; Cirigliano, Vincenzo; Summers, Anne; Tokunaga, Jason; Chun, Kathy

doi:10.1097/gim.0b013e3182036763

Cited by 15 publications

(14 citation statements)

References 39 publications

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“…Using at least four polymorphic mini-STR primers on each target chromosome enabled accurate trisomy detection in 96% of tested samples and provided fast and reliable diagnostic information on one autopsy case with features suggestive of trisomy 21 which was not characterized cytogenetically due to lack of growth in culture. One false-negative result was obtained for a trisomy 18 mosaic sample that had a high percentage of aneuploid cells detected by cytogenetics (47,XX,+18 [16]/46,XX [4]). STR analysis is capable of detecting mosaicism if the percentage of abnormal cells is >30% of the total cell population [6,7,22,23].…”

Section: Discussionmentioning

confidence: 93%

“…Concordance between cytogenetics and genotyping was 100% for all nonmosaic informative samples tested with primers for chromosomes 13, 16, 18, and 21. One discordant (false-negative) result was obtained for a FFPE trisomy 18 mosaic sample (47,XX,+18 [16]/46,XX [4]). Four nonmosaic trisomy samples each showed a biallelic locus with an allelic ratio in the disomic range (between 0.60 and 1.36), but analysis of multiple loci allowed for an accurate interpretation of the mini-STR results (Supplementary Table 1).…”

Section: Resultsmentioning

confidence: 99%

“…More importantly, these assays typically target only one locus per chromosome, precluding detection, and confirmation of trisomy. Trisomy detection using microsatellite genotyping requires multiple loci on each targeted chromosome, and at least two informative STR loci are usually required to confirm trisomy [9,[16][17][18].…”

Section: Introductionmentioning

confidence: 99%

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Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping

Furtado¹,

Jama²,

Paxton³

et al. 2012

Fetal and Pediatric Pathology

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Autosomal trisomy is the most common genetic abnormality observed in pregnancy loss. We designed a panel of mini-short tandem repeats (mini-STRs) for aneuploidy detection in chromosomes 13, 16, 18 and 21 from fresh and formalin fixed, paraffin embedded (FFPE) samples from products of conception (POC). FFPE POCs with trisomy 13 (n = 6), trisomy 18 (n = 6), trisomy 21 (n = 12), 6 euploid for the chromosomes of interest and two trisomy 16 samples from fresh tissue were tested. Concordance between cytogenetics and genotyping was 100% for non-mosaic samples. Mini-STR genotyping is a viable method for targeted aneuploidy detection in low quality DNA samples.

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Section: Discussionmentioning

confidence: 93%

Section: Resultsmentioning

confidence: 99%

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Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping

Furtado¹,

Jama²,

Paxton³

et al. 2012

Fetal and Pediatric Pathology

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“…Hence, QF-PCR is more cost-effective than karyotyping (21). Furthermore, QF-PCR is able to detect >90% of clinically significant chromosomal abnormalities (11,(22)(23)(24)(25), but this is controversial and certain studies suggest that QF-PCR may fail to detect 15-30% of the abnormalities identified by karyotyping (26,27). On the other hand, one limitation of QF-PCR is that it fails to detect structural abnormalities and mosaicism of <30% (28).…”

Section: Discussionmentioning

confidence: 99%

High accuracy of quantitative fluorescence polymerase chain reaction combined with non‑invasive pre‑natal testing for mid‑pregnancy diagnosis of common fetal aneuploidies: A single‑center experience in China

Huo

Luo

et al. 2019

Exp Ther Med

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Quantitative fluorescence polymerase chain reaction (QF-PCR) may be used as a mid-pregnancy test to confirm the diagnosis of common fetal aneuploidies, but its use is controversial. The present study aimed to determine the value of QF-PCR for diagnostic confirmation of karyotyping and the impact of parental origin and meiosis stage on the detected aneuploidy. The present prospective cohort study included pregnant women (age, 21-45 years; gestational age, 17-25 weeks) who consulted between May 2015 and December 2016. Women were screened and only consecutive high-risk individuals were included (n=428). QF-PCR analysis of amniocytes was performed. Karyotype analysis was considered the gold standard. Parental karyotyping was performed if the embryo exhibited any aneuploidy. GeneMapper 3.2 was used for data analysis. There were no false-negative or false-positive QF-PCR results, with 100% concordance with the karyotype. The aneuploidy distribution (n=105) was 68.6% for trisomy 21, 19.0% for trisomy 18, 7.6% for sex chromosome aneuploidy, 3.8% for trisomy 13 and 1.0% for 48,XXX,+18. Regarding trisomy 21, most cases (86.1%) were of maternal origin, 8.3% paternal and 6.5% undefined. Trisomy 18 was 88.2% maternal and 11.8% paternal. Maternal meiosis stage errors in trisomy 21 mainly occurred in meiosis I, while the origin of trisomy 18 exhibited similar proportions between meiosis I and II. The combination of non-invasive pre-natal testing and QF-PCR may become a rapid and effective method for fetal aneuploidy detection. QF-PCR may provide more genetic information for clinical diagnosis and treatment than karyotyping alone.

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“…In prenatal diagnosis, confirmation of trisomy by microsatellite genotyping generally requires at least 2 informative STR loci on the chromosome of interest. [26][27][28]33 We followed this precedent in our confirmatory testing and we used mini STRs to ensure accurate quantification of allele peak ratios from our poor-quality DNA samples. Robust amplification was generally observed, using the mini STRs on FFPE tissue.…”

Section: Commentmentioning

confidence: 99%

Diagnostic Utility of Microsatellite Genotyping for Molar Pregnancy Testing

Furtado

Paxton

Jama

et al. 2013

Archives of Pathology &Amp; Laboratory Medicine

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Context.—Molecular genotyping by analysis of DNA microsatellites, also known as short tandem repeats (STRs), is an established method for diagnosing and classifying hydatidiform mole. Distinction of both complete hydatidiform mole and partial hydatidiform mole from nonmolar specimens is relevant for clinical management owing to differences in risk for persistent gestational trophoblastic disease. Objective.—To determine the technical performance of microsatellite genotyping by using a commercially available multiplex assay, and to describe the application of additional methods to confirm other genetic abnormalities detected by the genotyping assay. Design.—Microsatellite genotyping data on 102 cases referred for molar pregnancy testing are presented. A separate panel of mini STR markers, flow cytometry, fluorescence in situ hybridization, and p57 immunohistochemistry were used to characterize cases with other incidental genetic abnormalities. Results.—Forty-eight cases were classified as hydatidiform mole (31, complete hydatidiform mole; 17, partial hydatidiform mole). Genotyping also revealed 11 cases of suspected trisomy and 1 case of androgenetic/biparental mosaicism. Trisomy for selected chromosomes (13, 16, 18, and 21) was confirmed in all cases by using a panel of mini STR markers. Conclusions.—This series illustrates the utility of microsatellite genotyping as a stand-alone method for accurate classification of hydatidiform mole. Other genetic abnormalities may be detected by genotyping; confirmation of the suspected abnormality requires additional testing.

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Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies

Cited by 15 publications

References 39 publications

Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping

Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping

High accuracy of quantitative fluorescence polymerase chain reaction combined with non‑invasive pre‑natal testing for mid‑pregnancy diagnosis of common fetal aneuploidies: A single‑center experience in China

Diagnostic Utility of Microsatellite Genotyping for Molar Pregnancy Testing

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