Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi

Berg, Caroline van den; Opstal, Diane Van; Brandenburg, Helen; Wildschut, Hajo I. J.; Hollander, Nicolette S. den; Pijpers, L.; Galjaard, R. J. H.; Los, Frans J.

doi:10.1002/1097-0223(200012)20:12<956::aid-pd956>3.0.co;2-y

Cited by 34 publications

(17 citation statements)

References 38 publications

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“…If so, perhaps in the future it will no longer be necessary to do invasive testing in all positive cases, meeting one of the major goals of introducing NIPT, namely reducing the number of invasive tests [12]. Since trisomy 21, in all cases, and trisomy 13 and 18, in the presence of ultrasound abnormalities, are generally considered to be 'certain fetal' abnormalities when encountered in STC-villi (cytotrophoblast) [45], perhaps confirmation in CV or amniotic fluid in the future may be skipped when fetal ultrasound abnormalities are present. However, in order to avoid the abortion of an unaffected fetus it then will be necessary not only to rely on z-scoring, but to use an analysis pipeline that allows whole chromosome analysis.…”

Section: Five-year Viewmentioning

confidence: 99%

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

Opstal

Srebniak

2016

Expert Review of Molecular Diagnostics

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Section: Five-year Viewmentioning

confidence: 99%

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

Opstal

Srebniak

2016

Expert Review of Molecular Diagnostics

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“…Owing to the frequency of maternal cell contamination (MCC) in long-term cultured villi (LTC-villi) was generally very low [23,24], LTC method was preferred as culture procedure. The miscarriage samples were carefully washed and estimated under a stereo microscope.…”

Section: Cytogenetic Analysismentioning

confidence: 99%

Effects of subtelomeric copy number variations in miscarriages

Tekcan

Elbistan²,

Tural³

et al. 2015

Gynecological Endocrinology

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There is no statistically significant difference between two groups (p > 0.05). However, the fact that the 6.6% subtelomeric CNV found in miscarriage samples was not found in controls, showed that further studies are required. We recommend that the miscarriage samples of the couples with recurrent miscarriage should be analyzed in terms of subtelomeric CNV after the exclusion of other clinical reasons.

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“…Karytoyping mitotically active cells from the embryologically remote cytotrophoblast layer in 'Direct' or 'Short term' cultures (STC) has been shown to be particularly likely to result in a discrepancy in the predicted fetal karyotype (Crane and Cheung, 1988;Pittalis et al, 1994;Hahneman and Vejerslev, 1997;Smith et al, 1999). As a result, laboratories have adopted a policy of karyotyping long-term cultures (LTC) from cultured mesenchymal cells or a combination of STC and LTC in order to minimise the risk of incorrect fetal karyotype assignment (van den Berg et al, 2000).…”

Section: Introductionmentioning

confidence: 99%

Complete discrepancy between abnormal fetal karyotypes predicted by QF‐PCR rapid testing and karyotyped cultured cells in a first‐trimester CVS

Waters¹,

Walsh²,

Levett

et al. 2006

Prenatal Diagnosis

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A chorion villus sample (CVS) biopsied at 11 weeks' gestation for raised nuchal translucency, revealed monosomy X (presumptive 45,X karyotype) by QF-PCR for rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y. Long-term culture gave the karyotype: 47,XY,+ 21[66]/49,XYY,+ 21,+ 21 [22]. This discrepancy prompted redigestion of the combined residual villus fragments from the original QF-PCR assay. The repeat QF-PCR assay identified the presence of trisomy 21 and a Y chromosome consistent with a 47,XY,+ 21 karyotype. A double non-disjunction event early in embryogenesis in a 47,XY,+ 21 conceptus with subsequent cell lineage compartmentalisation of the three observed cell lines (45,X; 47,XY,+ 21 and 49,XYY,+ 21,+ 21) would account for these results. This is the first reported case to describe complete discrepancy at diagnosis between abnormal karyotypes detected by QF-PCR rapid aneuploidy testing and a cultured karyotype in the same CVS.

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Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi

Cited by 34 publications

References 38 publications

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

Effects of subtelomeric copy number variations in miscarriages

Complete discrepancy between abnormal fetal karyotypes predicted by QF‐PCR rapid testing and karyotyped cultured cells in a first‐trimester CVS

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