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  • 1
    Online Resource
    Online Resource
    Table1.pdf
    Frontiers Media SA ; 2023
    In:  Frontiers in Genetics Vol. 14 ( 2023-9-27)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 14 ( 2023-9-27)
    Abstract: Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing. The present study investigated the potential of cell-based noninvasive prenatal testing (NIPT) for diagnosing monogenic disorders dependent on the mode of inheritance. Methods: Maternal blood samples were collected from women opting for prenatal diagnostics for specific monogenic disorders ( N = 7). Fetal trophoblasts were enriched and stained using magnetic activated cell sorting and isolated by fluorescens activated single-cell sorting. Individual cells were subject to whole genome amplification, and cells of fetal origin were identified by DNA-profiling using short tandem repeat markers. The amplified fetal DNA was input for genetic testing for autosomal dominant-, autosomal recessive-, X-linked and repeat expansion disorders by direct variant analysis and haplotyping. The cell-based NIPT results were compared with those of invasive testing. Results: In two cases at risk of skeletal dysplasia, caused by variants in the FGFR3 gene (autosomal dominant disorders), cell-based NIPT correctly stated an affected fetus, but allelic dropout of the normal alleles were observed in both cases. Cell-based NIPT gave an accurate result in two cases at risk of autosomal recessive disorders, where the parents carried either different diastrophic dysplasia causing variants in the SLC26A2 gene or the same cystic fibrosis disease-causing variant in the CFTR gene. Cell-based NIPT accurately identified an affected male fetus in a pregnancy at risk of Duchenne muscular dystrophy ( DMD gene, X-linked recessive disorders). In two cases at risk of the myotonic dystrophy type 1 ( DMPK gene, repeat expansion disorder), cell-based NIPT correctly detected an affected and an unaffected fetus, respectively. Discussion: Circulating fetal cells can be used to detect both maternally- and paternally inherited monogenic disorders irrespective of the type of variant, however, the risk of allelic dropout must be considered. We conclude that the clinical interpretation of the cell-based NIPT result thus varies depending on the disorders’ mode of inheritance.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    URL: Article
    DOI: 10.3389/fgene.2023.1188472
    DOI: 10.3389/fgene.2023.1188472.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2606823-0
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  • 2
    Online Resource
    Online Resource
    Presentation1.pptx
    Frontiers Media SA ; 2022
    In:  Frontiers in Genetics Vol. 13 ( 2022-3-11)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 13 ( 2022-3-11)
    Abstract: Background: The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefore, there is a need for noninvasive testing options that can test twin pregnancies at an early gestational age and ideally test the twins individually. Case presentation: A pregnant woman opted for cell-based NIPT at GA 10 + 5. As cell-based NIPT is not established for use in twins, the test was provided in a research setting only, when an ultrasound scan showed that she carried dichorionic twins. Materials and Methods: Fifty mL of peripheral blood was sampled, and circulating fetal cells were enriched and isolated. Individual cells were subject to whole-genome amplification and STR analysis. Three fetal cells were analyzed by chromosomal microarray (aCGH). Results: We identified 20 fetal cells all sharing the same genetic profile, which increased the likelihood of monozygotic twins. aCGH of three fetal cells showed the presence of two X chromosomes and a gain of chromosome Y. CVS from both placentae confirmed the sex chromosomal anomaly, 47,XXY and that both fetuses were affected. Conclusion: NIPT options can provide valuable genetic information to twin pregnancies that help the couples in their decision-making on prenatal testing. Little has been published about the use of cell-based NIPT in twin pregnancies, but the method may offer the possibility to obtain individual cell-based NIPT results in dizygotic twins.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    URL: Article
    DOI: 10.3389/fgene.2022.842092
    DOI: 10.3389/fgene.2022.842092.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2606823-0
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  • 3
    Online Resource
    Online Resource
    Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT
    Frontiers Media SA ; 2021
    In:  Frontiers in Genetics Vol. 12 ( 2021-9-14)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 12 ( 2021-9-14)
    Abstract: Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the fetal fraction of cell-free DNA in plasma is analyzed with a high background of maternal DNA. In contrast, for cell-based NIPT, a limited number of the rare, intact fetal cells are isolated for the genetic analysis. This case demonstrates the differences regarding testing for fetal sex-chromosomes anomalies (SCAs) between these two tests. Materials and Methods: A pregnant woman with mosaicism for Turner syndrome opted for NIPT in first trimester. For the cell-free NIPT analysis, DNA extraction, genome-wide massive parallel sequencing, and data analysis were carried out as described by the kit manufacturer (Illumina©, San Diego, CA, USA). For cell-based NIPT, the first sample gave no result, but the woman consented to repeat cell-based NIPT. After whole genome amplification and STR analysis, fetal DNA from three individual fetal cells was subjected to chromosomal microarray (aCGH, Agilent oligoarray, 180 kb). Results: Fetal fraction was 7%, and cell-free NIPT showed 2 copies of chromosomes 13, 18, and 21 and a decreased proportion of chromosome X, suggestive of fetal Turner syndrome. In contrast, the cell-based NIPT result showed no aneuploidy and two X-chromosomes in the fetus. Conclusion: cell-based NIPT may provide a non-invasive testing option to screen for SCAs in women with mosaicism for monosomy-X in blood, where cell-free NIPT cannot discriminate whether the X-loss is maternal or fetal.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    DOI: 10.3389/fgene.2021.741752
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2606823-0
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  • 4
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    Online Resource
    Video_1.MP4
    Frontiers Media SA ; 2021
    In:  Frontiers in Neuroscience Vol. 15 ( 2021-12-17)
    Details
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 15 ( 2021-12-17)
    Abstract: Spinal cord injury can leave the affected individual severely disabled with a low level of independence and quality of life. Assistive upper-limb exoskeletons are one of the solutions that can enable an individual with tetraplegia (paralysis in both arms and legs) to perform simple activities of daily living by mobilizing the arm. Providing an efficient user interface that can provide full continuous control of such a device—safely and intuitively—with multiple degrees of freedom (DOFs) still remains a challenge. In this study, a control interface for an assistive upper-limb exoskeleton with five DOFs based on an intraoral tongue-computer interface (ITCI) for individuals with tetraplegia was proposed. Furthermore, we evaluated eyes-free use of the ITCI for the first time and compared two tongue-operated control methods, one based on tongue gestures and the other based on dynamic virtual buttons and a joystick-like control. Ten able-bodied participants tongue controlled the exoskeleton for a drinking task with and without visual feedback on a screen in three experimental sessions. As a baseline, the participants performed the drinking task with a standard gamepad. The results showed that it was possible to control the exoskeleton with the tongue even without visual feedback and to perform the drinking task at 65.1% of the speed of the gamepad. In a clinical case study, an individual with tetraplegia further succeeded to fully control the exoskeleton and perform the drinking task only 5.6% slower than the able-bodied group. This study demonstrated the first single-modal control interface that can enable individuals with complete tetraplegia to fully and continuously control a five-DOF upper limb exoskeleton and perform a drinking task after only 2 h of training. The interface was used both with and without visual feedback.
    Type of Medium: Online Resource
    ISSN: 1662-453X
    URL: Article
    URL: Article
    DOI: 10.3389/fnins.2021.739279
    DOI: 10.3389/fnins.2021.739279.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2411902-7
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