Incidence of placental mosaicism leading to discrepant results between QF‐PCR and karyotyping in 22,825 chorionic villus samples

Holgado, Elaine; Liddle, Stuart; Ballard, Terry; Levett, Lisa J.

doi:10.1002/pd.2826

Cited by 16 publications

(22 citation statements)

References 23 publications

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“…Incidence of discrepant results is therefore likely to vary between centres. For instance, a recent paper by Holgado et al . reported a 1/815 incidence of completely discrepant results in CV samples, whereas the incidence at our centre is <1/10 000 …”

Section: Data Collections and Detection Ratescontrasting

confidence: 60%

“…Complete discrepancies are of greater concern; regarding AFs, there have been no reported complete discrepancies between a diagnostic QF‐PCR and karyotype result for autosomal trisomies although one group has reported a discrepant sex test result (XX on PCR, X/XXX on karyotype) . Diagnoses for CVS are more problematic, with reports of completely discrepant QF‐PCR and karyotype results due to placental mosaicism from a number of centres . The incidence of such discrepant results is likely to be determined by several factors, including the following: The quality and size of the original CV biopsy .…”

Section: Data Collections and Detection Ratesmentioning

confidence: 99%

“…16 Diagnoses for CVS are more problematic, with reports of completely discrepant QF-PCR and karyotype results due to placental mosaicism from a number of centres. [17][18][19][20][21] The incidence of such discrepant results is likely to be determined by several factors, including the following:…”

Section: Data Collections and Detection Ratesmentioning

confidence: 99%

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QF‐PCR: application, overview and review of the literature

Mann

Ogilvie

2012

Prenatal Diagnosis

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Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its application at our centre is described, with developments including stand-alone testing and improvements in strategies for the preparation and testing of chorionic villus biopsies.

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Section: Data Collections and Detection Ratescontrasting

confidence: 60%

Section: Data Collections and Detection Ratesmentioning

confidence: 99%

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QF‐PCR: application, overview and review of the literature

Mann

Ogilvie

2012

Prenatal Diagnosis

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“…QF-PCR can detect mosaicisms with low-level trisomy cell lines [19]. To date, only a few case reports of complete discrepancies between diagnostic QF-PCR and CVS karyotyping results for common selected autosomal trisomies of chromosomes 13, 18, and 21 have been reported [678920]. In the past, the incidence of true false-negative CVS results by short-term culture and LTC was estimated to be lower than 0.03% (1 in 3,300) [21].…”

Section: Discussionmentioning

confidence: 99%

“…Fourth, QF-PCR sensitivity and specificity are dependent on the methodologies used in the laboratories and whether they report abnormalities of sex chromosomes [91220]. The methodology of QF-PCR differs according to the guidelines of the laboratory and the automatic machines used for amplification and analysis.…”

Section: Discussionmentioning

confidence: 99%

Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution

Shin¹,

Chung

Kim

et al. 2016

Obstet Gynecol Sci

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ObjectiveTo validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies.MethodsWe retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared.ResultsA total of 383 pregnant women underwent QF-PCR and LTC via CVS during the study period and 403 CVS specimens were collected. The indications of CVS were as follows: abnormal first-trimester ultrasonographic findings, including increased fetal nuchal translucency (85.1%), advanced maternal age (6.8%), previous history of fetal anomalies (4.2%), and positive dual test results for trisomy 21 (3.9%). The results of QF-PCR via CVS were as follows: 76 (18.9%) cases were identified as trisomy 21 (36 cases), 18 (33 cases), or 13 (seven cases), and 4 (1.0%) cases were suspected to be mosaicism. All results of common autosomal trisomies by QF-PCR were consistent with those of LTC and there were no false-positive findings. Four cases suspected as mosaicism in QF-PCR were confirmed as non-mosaic trisomies of trisomy 21 (one case) or trisomy 18 (three cases) in LTC.ConclusionQF-PCR via CVS has the advantage of rapid prenatal screening at an earlier stage of pregnancy for common chromosomal trisomies and thus can reduce the anxiety of parents. In particular, it can be helpful for pregnant women with increased fetal nuchal translucency or abnormal first-trimester ultrasonographic findings.

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Application of the BACs‐on‐Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions

Huang

Zhang

Wang

et al. 2018

Molecular Reproduction Devel

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Prenatal diagnosis focuses on the detection of anatomic and physiologic problems with a foetus before birth. Karyotyping is currently considered the gold standard for prenatal diagnosis of chromosomal abnormalities, but this method can be time consuming. This study evaluated the diagnostic accuracy of the BACs-on-Beads (BoBs™) assay for the rapid diagnosis of aneuploidies and microdeletions. A total of 625 samples from pregnant women in Fujian province, in southeastern China-including three chorionic villus biopsies, 523 amniotic fluid samples, and 99 umbilical-cord centesis samples-were assessed for chromosomal abnormalities by karyotyping and by the BoBs™ assay. A diagnosis was successfully achieved by karyotyping for 98.8% (618/625) and by the BoBs™ assay for 100% (625/625) of the samples. Both assays were concordant for trisomy 21 (2.72%, 17/625), trisomy 18 (1.12%, 7/625), trisomy 13 (0.48%, 3/625), and sex chromosome aneuploidies (0.8%, 5/625). Unlike karyotyping, the BoBs™ assay detected 22q11.2 microdeletion (0.64%, 4/625), 22q11.2 microduplication (0.16%, 1/625), Smith-Magenis syndrome microdeletion (0.16%, 1/625), and Miller-Dieker syndrome microdeletion (0.16%, 1/625). Thus, the BoBs™ assay is a reliable and rapid test for detecting common aneuploidies and microdeletions for prenatal diagnosis, and could be used instead of karyotyping for detection of common aneuploidies as well as to provide additional information regarding microdeletions.

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Incidence of placental mosaicism leading to discrepant results between QF‐PCR and karyotyping in 22,825 chorionic villus samples

Cited by 16 publications

References 23 publications

QF‐PCR: application, overview and review of the literature

QF‐PCR: application, overview and review of the literature

Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution

Application of the BACs‐on‐Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions

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