The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study

Smith, K.; Lowther, Gordon; Maher, E. J.; Hourihan, T.; Wilkinson, Tracy A.; Wolstenholme, John

doi:10.1002/(sici)1097-0223(199909)19:9<817::aid-pd647>3.0.co;2-8

Cited by 52 publications

(30 citation statements)

References 12 publications

(15 reference statements)

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“…When nonmosaic trisomy 18 and X/Y aneuploidies were present in the mesenchyme they were also always present in the fetus. 25 Structural chromosome abnormalities Structural rearrangements with a 47, þ mar karyotype carry a 27.3% risk of fetal confirmation, higher than the 3.2% risk in the case of a 46,rearr karyotype. In our study, the structural rearrangements other than supernumerary markers included only one case of type II CV mosaicism with a 46,XY,t(10;12)(q23.3;p13.3) cell line extended to the fetus.…”

Section: True Fetal Mosaicism: Risk Assessmentmentioning

confidence: 97%

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi

Grati¹,

Grimi²,

Frascoli³

et al. 2006

Eur J Hum Genet

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Chromosome mosaicism is detected in about 1-2% of chorionic villi samples (CVS), and may be due to a postzygotic nondisjunction event generating a trisomic cell line in an initially normal conceptus (mitotic origin) or the postzygotic loss of one chromosome in an initially trisomic conceptus (meiotic origin and trisomy rescue). Depending on the distribution of the abnormal cell line, the mosaic can be confined to the placenta (CPM) or generalised to the fetus (TFM, true fetal mosaicism). Trisomy rescue could theoretically be associated with a 33.3% probability of uniparental disomy (UPD) in the fetus. The aim of this study was to determine the risk of fetal involvement in a cohort of numerical and structural chromosome mosaics revealed in chorionic villi by means of combined direct and long-term culture analyses; we also determined the incidence of UPD associated with mosaic aneuploidies and supernumerary markers involving imprinted chromosomes. A total of 273 of a consecutive series of 15 109 CVS evaluated during a period of 5 years showed a mosaic condition in direct preparations and/or long-term cultures; confirmatory amniocentesis was performed in 203 cases. The abnormal cell line was extended to the fetus in 12.8% cases in terms of structural and numerical abnormalities involving autosomes and sex chromosomes; the risk of TFM varied and depended on the placental tissue distribution of the abnormal cell line. One of the 51 cases in which the mosaic involved an imprinted chromosome showed UPD, thus indicating a risk of 1.96%.

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Section: True Fetal Mosaicism: Risk Assessmentmentioning

confidence: 97%

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi

Grati¹,

Grimi²,

Frascoli³

et al. 2006

Eur J Hum Genet

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“…If sex-chromosomes are included in the NIPT test, and if the test reveals an increased risk for sex-chromosomal aneuploidy, an amniocentesis should be recommended as well due to the relatively low predictive value of sex-chromosomal abnormalities in CV for the fetal chromosomal status. Especially, the detection of 45,X in CV has shown to be an unhelpfully erratic indicator of the fetal karyotype [8,36]. Moreover, it was shown that a relatively high frequency of sex-chromosomal aneuploidies (8.6%) as detected with NIPT is due to maternal mosaicism [37].…”

Section: Other Autosomal Trisomies and Sex-chromosomal Aneuploidiesmentioning

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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“…Mosaicism for a chromosome abnormality is also a widely reported feature of prenatal samples, with mosaicism for trisomy 13, 18 or 21 occurring in approximately 0.26% of CVS. 2 Ideally, minority normal and abnormal cell lines should be identified as these may be of clinical significance to the pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Strategies for the rapid prenatal diagnosis of chromosome aneuploidy

et al. 2004

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Rapid diagnosis of common chromosome aneuploidies in raised risk pregnancies, usually prior to full karyotype analysis, is now carried out in a number of European genetic centres; several techniques for detecting genomic copy number changes have been described. Prenatal diagnosis of genetic disease requires accurate and robust assays; the invasive procedures are associated with a risk of pregnancy loss and an abnormal result may lead to termination of the pregnancy. The testing of prenatal material (amniotic fluid, chorionic villi or, more rarely, fetal blood) is associated with specific problems, including the quality and quantity of the tissue and difficulties of interpretation due to phenomena such as maternal cell contamination and mosaicism. In addition, there are 24-h, high-throughput demands on centres offering such a service. The extent to which existing and proposed strategies, including different PCRbased assays, a multiplex ligation-dependent probe amplification approach, and microarrays, fulfil the requirements of rapid prenatal testing is discussed. In the past 3 years, we have tested 7720 prenatal samples for trisomies 13, 18 and 21 using a quantitative fluorescence-PCR (QF-PCR) approach. The abnormality rate was 5.7%. There were no misdiagnoses for nonmosaic trisomy, the amplification failure rate was 0.09% of samples, and 97% of samples received a report on the working day following sample receipt. Maternal cell contamination and mosaicism were also detected. Our data recommend a QF-PCR approach as the current method of choice for rapid aneuploidy testing.

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The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study

Cited by 52 publications

References 12 publications

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi

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

Strategies for the rapid prenatal diagnosis of chromosome aneuploidy

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