LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 4 of total 4

Search options

  1. Article: Incidental finding of maternal malignancy in an unusual non-invasive prenatal test and a review of similar cases.

    Moellgaard, Maria Hammer / Lund, Ida Charlotte Bay / Becher, Naja / Skytte, Anne-Bine / Andreasen, Lotte / Srebniak, Malgorzata Ilona / Vogel, Ida

    Clinical case reports

    2022  Volume 10, Issue 10, Page(s) e6280

    Abstract: We present a clinical case where a complex abnormal non-invasive prenatal test (NIPT) result in a research project revealed carcinoma of the breast in the pregnant woman. Furthermore, the NIPT result did not demonstrate the same fetal chromosomal ... ...

    Abstract We present a clinical case where a complex abnormal non-invasive prenatal test (NIPT) result in a research project revealed carcinoma of the breast in the pregnant woman. Furthermore, the NIPT result did not demonstrate the same fetal chromosomal aberration as the chorion villus sample. A literature search for similar cases was performed identifying 43 unique cases, where abnormal NIPT results were related to maternal malignancy. Malignancy is a rare but important cause of complex abnormal non-invasive prenatal test (NIPT) results and should be considered when fetal karyotype and abnormal NIPT results are discordant. Furthermore, a follow-up invasive sample is essential for correct fetal diagnosis when abnormal NIPT results are found.
    Language English
    Publishing date 2022-10-11
    Publishing country England
    Document type Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.6280
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing.

    Faas, Brigitte H W / Astuti, Galuh / Melchers, Willem J G / Reuss, Annette / Gilissen, Christian / Macville, Merryn V E / Ghesquiere, Stijn A I / Houben, Leonieke M H / Srebniak, Malgorzata Ilona / Geeven, Geert / Rahamat-Langendoen, Janette C / Sistermans, Erik A / Linthorst, Jasper

    EBioMedicine

    2024  Volume 100, Page(s) 104983

    Abstract: Background: Prenatal hCMV infections can lead to severe embryopathy and neurological sequelae in neonates. Screening during pregnancy is not recommended by global societies, as there is no effective therapy. Recently, several groups showed that maternal- ...

    Abstract Background: Prenatal hCMV infections can lead to severe embryopathy and neurological sequelae in neonates. Screening during pregnancy is not recommended by global societies, as there is no effective therapy. Recently, several groups showed that maternal-fetal hCMV transmission can be strongly reduced by administering anti-viral agents early in pregnancy. This calls for a screening method to identify at risk pregnancies at an appropriate gestational age, with the possibility for large-scale enrolment. Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidy screening early in pregnancy is already implemented in many countries and performed on a large-scale basis. We investigated the use of whole genome cell-free DNA (cfDNA) sequencing data, generated for the purpose of NIPT, as (pre-)screening tool to identify women with active hCMV-infections, eligible for therapy.
    Methods: Coded raw sequencing NIPT data from 204,818 pregnant women from three testing laboratories were analyzed for the presence of hCMV-cfDNA. Samples were stratified by cfDNA-hCMV load. For validation and interpretation, diagnostic hCMV-qPCR and serology testing were performed on a subset of cfDNA-hCMV-positive (n = 112) and -negative (n = 127) samples.
    Findings: In 1930 samples (0.94%) hCMV fragments were detected. Validation by hCMV-qPCR showed that samples with high cfDNA-hCMV load tested positive and cfDNA-hCMV-negative samples tested negative. In 32/112 cfDNA-hCMV-positive samples (28.6%) the serological profile suggested a recent primary infection: this was more likely in samples with high cfDNA-hCMV load (78.6%) than in samples with low cfDNA-hCMV load (11.0%). In none of the cfDNA-hCMV-negative samples serology was indicative of a recent primary infection.
    Interpretation: Our study shows that large-scale (pre-)screening for both genetic fetal aberrations and active maternal hCMV infections during pregnancy can be combined in one cfDNA sequencing test, performed on a single blood sample, drawn in the first trimester of pregnancy.
    Funding: This work was partly funded by the Prenatal Screening Foundation Nijmegen, the Netherlands.
    MeSH term(s) Infant, Newborn ; Humans ; Female ; Pregnancy ; Cytomegalovirus/genetics ; Pregnant Women ; Aneuploidy ; Prenatal Diagnosis/methods ; Cell-Free Nucleic Acids
    Chemical Substances Cell-Free Nucleic Acids
    Language English
    Publishing date 2024-02-02
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2851331-9
    ISSN 2352-3964
    ISSN (online) 2352-3964
    DOI 10.1016/j.ebiom.2024.104983
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 7090: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article: Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan.

    Srebniak, Malgorzata Ilona / Knapen, Maarten F C M / Joosten, Marieke / Diderich, Karin E M / Galjaard, Sander / Van Opstal, Diane

    Molecular cytogenetics

    2021  Volume 14, Issue 1, Page(s) 4

    Abstract: Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendly first ... ...

    Abstract Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendly first trimester screening for both chromosomal and structural fetal anomalies in only two outpatient visits can be provided. Genotype-first approach assures not only the earliest diagnosis of trisomy 21 (the most prevalent chromosome aberration), but also completion of the screening at 12-14 weeks. To ensure proper management and avoid unnecessary anxiety abnormal NIPT different from trisomy 21, 18 and 13 should be referred for genetic counseling.
    Language English
    Publishing date 2021-01-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 2420849-8
    ISSN 1755-8166
    ISSN 1755-8166
    DOI 10.1186/s13039-020-00525-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

    de Groot-van der Mooren, Maurike / de Graaf, Gert / Weijerman, Michel E / Hoffer, Mariette J V / Knijnenburg, Jeroen / van der Kevie-Kersemaekers, Anne-Marie M F / Kooper, Angelique J A / Voorhoeve, Els / Sikkema-Raddatz, Birgit / van Zutven, Laura J C M / Srebniak, Malgorzata Ilona / Huijsdens-van Amsterdam, Karin / Engelen, John J M / Smeets, Dominique / van Kaam, Anton H / Cornel, Martina C

    Prenatal diagnosis

    2021  Volume 41, Issue 10, Page(s) 1351–1359

    Abstract: Objective: To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands.: Method: Data from clinical genetics laboratories and the Working Party on Prenatal Diagnosis and Therapy (2014- ...

    Abstract Objective: To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands.
    Method: Data from clinical genetics laboratories and the Working Party on Prenatal Diagnosis and Therapy (2014-2018) and previous published data (1991-2013) were used to assess trends for DS LB prevalence and reduction percentage (the net decrease in DS LBs resulting from selective termination of pregnancies). Statistics Netherlands provided general population data.
    Results: DS LB prevalence increased from 11.6/10,000 in 1991 to 15.9/10,000 in 2002 (regression coefficient 0.246 [95% CI: 0.105-0.388; p = 0.003]). After 2002, LB prevalence decreased to 11.3/10,000 in 2014 and further to 9.9/10,000 in 2018 (regression coefficient 0.234 (95% CI: -0.338 to -0.131; p < 0.001). The reduction percentage increased from 26% in 1991 to 55.2% in 2018 (regression coefficient 0.012 (95% CI: 0.010-0.013; p < 0.001)). There were no trend changes after introducing NIPT as second-tier (2014) and first-tier test (2017).
    Conclusions: Introducing NIPT did not change the decreasing trend in DS LB prevalence and increasing trend in reduction percentage. These trends may be caused by a broader development of more prenatal testing that had already started before introducing NIPT.
    MeSH term(s) Adult ; Down Syndrome/diagnostic imaging ; Down Syndrome/epidemiology ; Female ; Humans ; Live Birth/epidemiology ; Live Birth/genetics ; Netherlands/epidemiology ; Noninvasive Prenatal Testing/methods ; Noninvasive Prenatal Testing/standards ; Noninvasive Prenatal Testing/statistics & numerical data ; Pregnancy ; Prevalence ; Registries/statistics & numerical data
    Language English
    Publishing date 2021-07-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6003
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1625: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top