Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women

Kølvraa, Steen; Singh, Ripudaman; Normand, Elizabeth A.; Qdaisat, Sadeem; Veyver, Ignatia B. Van den; Jackson, Laird G.; Hatt, Lotte; Schelde, Palle; Uldbjerg, Niels; Vestergaard, Else Marie; Zhao, Li; Chen, Rui; Shaw, Chad A.; Breman, Amy M.; Beaudet, Arthur L.

doi:10.1002/pd.4948

Cited by 70 publications

(111 citation statements)

References 31 publications

(48 reference statements)

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“…In another pregnancy carrying a fetus which was mosaic for monosomy X and a cell line with telomeric deletions on chromosome X, we could detect a complete loss of chromosome X and subtelomeric deletion in the DNA from two individual fetal cells respectively [26]. The results were confirmed by CMA and NGS on an amniocentesis sample.…”

Section: Dna Fidelitysupporting

confidence: 55%

“…This method of targeting EVTs has been very reliable in enriching fetal cells from every pregnant sample. Fetal cells enriched this way have subsequently been used to detect chromosomal and subchromosomal changes in the fetal genome, thus confirming EVTs to be relevant targets in cbNIPD [17].…”

Section: Trophoblastsmentioning

confidence: 75%

“…However, only 4.25% of the nuclei analyzed by FISH showed a Y-signal [15]. Human leukocyte antigen G has also been successfully used to enrich circulating trophoblasts from maternal circulation and use those cells for aneuploidy detection [16][17][18]. Other studies have relied on size-based isolation of fetal trophoblastic cells and used those cells for prenatal diagnosis [19].…”

Section: Trophoblastsmentioning

confidence: 99%

“…They found that there was an increase in the number of nRBCs in the samples processed after 18-24 h as compared with 4 h after sampling. Using the method to enrich fetal cells recently described by us [17], we have performed several experiments testing the stability of blood samples and found that after drawing the blood it can be kept in the lab or transported by air for up to 48 h before processing, without affecting the fetal cell recovery [unpublished data]. On one hand these data reflect the robustness of the technologies and on the other hand show the stability of fetal cells in maternal circulation.…”

Section: Platform and Parameter Independent Cbnipd Technologymentioning

confidence: 99%

See 3 more Smart Citations

Fetal Cells in Maternal Blood For Prenatal Diagnosis: A Love Story Rekindled

Singh¹,

Hatt²,

Ravn³

et al. 2017

Biomark. Med.

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Section: Dna Fidelitysupporting

confidence: 55%

Section: Trophoblastsmentioning

confidence: 75%

Section: Trophoblastsmentioning

confidence: 99%

Section: Platform and Parameter Independent Cbnipd Technologymentioning

confidence: 99%

See 2 more Smart Citations

Fetal Cells in Maternal Blood For Prenatal Diagnosis: A Love Story Rekindled

Singh¹,

Hatt²,

Ravn³

et al. 2017

Biomark. Med.

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“…In conventional cffNIPT, the DNA is fragmented and contaminated with maternal DNA making it difficult to detect small copy number variations in the fetal genome. Since fetal cells encompass the uncontaminated fetal genome, cbNIPT paves the way for progress in noninvasive prenatal testing [8]. Vestergaard et al [9] previously demonstrated that aneuploidies and even sub-chromosomal aberrations can be detected using this cbNIPT technology.…”

Section: Introductionmentioning

confidence: 99%

Does Maternal Body Mass Index Affect the Quantity of Circulating Fetal Cells Available to Use for Cell-Based Noninvasive Prenatal Test in High-Risk Pregnancies?

Kruckow¹,

Schelde²,

Hatt³

et al. 2018

Fetal Diagn Ther

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We present the first study that investigates the effect of maternal body mass index (BMI) on the quantity of circulating fetal cells available to use in cell-based noninvasive prenatal test (cbNIPT). cbNIPT has been proposed as a superior alternative to noninvasive prenatal test from cell-free fetal DNA. Kølvraa et al. [Prenat Diagn. 2016 Dec; 36(12): 1127–34] established that cbNIPT can be performed on as few as one fetal cell, and Vestergaard et al. [Prenat Diagn. 2017 Nov; 37(11): 1120–4] demonstrated that these fetal trophoblast cells could be used successfully in cbNIPT to detect chromosomal and sub-chromosomal abnormalities. This study on 91 pregnant women with high-risk pregnancies suggests that cbNIPT should not be hampered by an increased BMI because every pregnancy, irrespective of the BMI, has rendered fetal cells for downstream genetic analysis. The mean number of fetal cells per sample was 12.6, with a range of 1–43 cells in one sample. ANOVA showed that increasing maternal BMI tends to decrease the number of fetal cells, but not significantly.

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Foetal Diagnosis

Miny

Filges

Tercanli³

et al. 2018

Encyclopedia of Life Sciences

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New genetic testing approaches as well as a constant progress in the imaging technologies of the foetus have changed the practice of prenatal diagnosis during the past decade fundamentally. The greatly improved noninvasive risk assessment for common foetal aneuploidies by recent cell‐free DNA (cfDNA) testing technologies on maternal plasma (NIPT or NIPS) has been much acclaimed by pregnant women and their doctors as well and resulted in a significant decline of invasive testing requiring chorionic villus sampling or amniocentesis. Exclusion of foetal aneuploidy is still by far the most frequent indication for prenatal testing, and the growing number of options must be addressed in routine care for all pregnancies. Pregnancies at high risk for foetal aneuploidy or other copy number variations profit from high‐resolution karyotyping using chromosomal microarrays. Noninvasive prenatal diagnosis (NIPD) is established for the foetal sex or blood group markers and progressing for numerous monogenic conditions. Key Concepts Noninvasive testing of cell‐free DNA in the maternal plasma is an established screening tool for trisomy 21 and other common trisomies and has caused a significant decrease of invasive testing. Cell‐free DNA testing for common aneuploidies with current technologies will likely not become diagnostic owing to its origin from trophoblast cells. Targeted cell‐free DNA testing is a diagnostic option for a growing number of monogenic conditions. Genomic testing approaches such as symptom‐ or disease‐based gene panels or whole‐exome sequencing spread slowly into invasive as well as noninvasive prenatal testing. Genetic testing on amniotic fluid cells or placental villi is most comprehensive and accurate and remains the gold standard of foetal diagnosis.

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Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women

Abstract: Intact fetal cells can be isolated from every maternal blood sample. Amplified DNA from isolated fetal cells enabled genetic analysis by array comparative genomic hybridization and next-generation sequencing. © 2016 John Wiley & Sons, Ltd.

Cited by 70 publications

References 31 publications

Fetal Cells in Maternal Blood For Prenatal Diagnosis: A Love Story Rekindled

Fetal Cells in Maternal Blood For Prenatal Diagnosis: A Love Story Rekindled

Does Maternal Body Mass Index Affect the Quantity of Circulating Fetal Cells Available to Use for Cell-Based Noninvasive Prenatal Test in High-Risk Pregnancies?

Foetal Diagnosis

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