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  1. Article ; Online: Twenty years of progress in the diagnosis and management of foetal urinary tract conditions.

    Blakemore, Karin / Chitty, Lyn S

    Prenatal diagnosis

    2024  Volume 44, Issue 2, Page(s) 115–116

    MeSH term(s) Pregnancy ; Female ; Humans ; Ultrasonography, Prenatal ; Fetus ; Prenatal Care ; Urinary Tract
    Language English
    Publishing date 2024-01-29
    Publishing country England
    Document type Editorial ; Research Support, Non-U.S. Gov't
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6528
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Non-invasive prenatal testing 10 years on.

    Chitty, Lyn S

    Prenatal diagnosis

    2021  Volume 41, Issue 10, Page(s) 1187–1189

    MeSH term(s) Down Syndrome ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis
    Language English
    Publishing date 2021-08-21
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6032
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  3. Article ; Online: A new decade, fond farewells and a new era for Prenatal Diagnosis.

    Chitty, Lyn S

    Prenatal diagnosis

    2021  Volume 41, Issue 1, Page(s) 3–4

    Language English
    Publishing date 2021-01-03
    Publishing country England
    Document type Editorial
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.5891
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  4. Article ; Online: Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies.

    Chitty, Lyn S

    Prenatal diagnosis

    2019  Volume 39, Issue 9, Page(s) 663–665

    MeSH term(s) Female ; Humans ; Pregnancy ; Ultrasonography, Prenatal
    Language English
    Publishing date 2019-08-14
    Publishing country England
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.5537
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  5. Article ; Online: Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.

    Vora, Neeta L / Langlois, Sylvie / Chitty, Lyn S

    Prenatal diagnosis

    2023  Volume 44, Issue 4, Page(s) 389–397

    Abstract: Noninvasive cfDNA testing for monogenic disorders (sgNIPT) has become integrated into the care of pregnant women at increased risk based on carrier status, known family history, or ultrasound anomalies. The availability of commercial tests for common ... ...

    Abstract Noninvasive cfDNA testing for monogenic disorders (sgNIPT) has become integrated into the care of pregnant women at increased risk based on carrier status, known family history, or ultrasound anomalies. The availability of commercial tests for common autosomal recessive and de novo autosomal dominant conditions has led to the use of these tests in low-risk pregnancies. However, is the technology ready for use in this low-risk population? This report is a summary of the debate on this topic at the 27
    MeSH term(s) Pregnancy ; Humans ; Female ; Cell-Free Nucleic Acids ; Prenatal Diagnosis/methods ; Risk Factors
    Chemical Substances Cell-Free Nucleic Acids
    Language English
    Publishing date 2023-11-22
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6469
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  6. Article ; Online: Advances in the prenatal diagnosis of monogenic disorders.

    Chitty, Lyn S

    Prenatal diagnosis

    2018  Volume 38, Issue 1, Page(s) 3–5

    MeSH term(s) Female ; Genetic Diseases, Inborn/diagnosis ; Humans ; Maternal Serum Screening Tests ; Pregnancy ; Whole Exome Sequencing
    Language English
    Publishing date 2018-02-02
    Publishing country England
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.5208
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis.

    Chitty, Lyn S / Van den Veyver, Ignatia B

    Prenatal diagnosis

    2022  Volume 42, Issue 12, Page(s) 1479–1480

    MeSH term(s) Female ; Pregnancy ; Humans ; Genomics ; Databases, Genetic ; Prenatal Diagnosis
    Language English
    Publishing date 2022-11-03
    Publishing country England
    Document type Editorial
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6252
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  8. Article ; Online: Use of cell-free DNA to screen for Down's syndrome.

    Chitty, Lyn S

    The New England journal of medicine

    2015  Volume 372, Issue 17, Page(s) 1666–1667

    MeSH term(s) DNA/analysis ; Down Syndrome/diagnosis ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis/methods
    Chemical Substances DNA (9007-49-2)
    Language English
    Publishing date 2015-04-01
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMe1502441
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  9. Article ; Online: Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders.

    Hanson, Britt / Scotchman, Elizabeth / Chitty, Lyn S / Chandler, Natalie J

    Clinical science (London, England : 1979)

    2022  Volume 136, Issue 22, Page(s) 1615–1629

    Abstract: Cell-free fetal DNA (cffDNA) is released into the maternal circulation from trophoblastic cells during pregnancy, is detectable from 4 weeks and is representative of the entire fetal genome. The presence of this cffDNA in the maternal bloodstream has ... ...

    Abstract Cell-free fetal DNA (cffDNA) is released into the maternal circulation from trophoblastic cells during pregnancy, is detectable from 4 weeks and is representative of the entire fetal genome. The presence of this cffDNA in the maternal bloodstream has enabled clinical implementation of non-invasive prenatal diagnosis (NIPD) for monogenic disorders. Detection of paternally inherited and de novo mutations is relatively straightforward, and several methods have been developed for clinical use, including quantitative polymerase chain reaction (qPCR), and PCR followed by restriction enzyme digest (PCR-RED) or next-generation sequencing (NGS). A greater challenge has been in the detection of maternally inherited variants owing to the high background of maternal cell-free DNA (cfDNA). Molecular counting techniques have been developed to measure subtle changes in allele frequency. For instance, relative haplotype dosage analysis (RHDO), which uses single nucleotide polymorphisms (SNPs) for phasing of high- and low-risk alleles, is clinically available for several monogenic disorders. A major drawback is that RHDO requires samples from both parents and an affected or unaffected proband, therefore alternative methods, such as proband-free RHDO and relative mutation dosage (RMD), are being investigated. cffDNA was thought to exist only as short fragments (<500 bp); however, long-read sequencing technologies have recently revealed a range of sizes up to ∼23 kb. cffDNA also carries a specific placental epigenetic mark, and so fragmentomics and epigenetics are of interest for targeted enrichment of cffDNA. Cell-based NIPD approaches are also currently under investigation as a means to obtain a pure source of intact fetal genomic DNA.
    MeSH term(s) Female ; Pregnancy ; Humans ; Cell-Free Nucleic Acids/genetics ; Placenta ; Prenatal Diagnosis/methods ; Haplotypes ; DNA/genetics
    Chemical Substances Cell-Free Nucleic Acids ; DNA (9007-49-2)
    Language English
    Publishing date 2022-11-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 206835-7
    ISSN 1470-8736 ; 0301-0538 ; 0009-0360 ; 0143-5221
    ISSN (online) 1470-8736
    ISSN 0301-0538 ; 0009-0360 ; 0143-5221
    DOI 10.1042/CS20210380
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: A sonographic approach to the prenatal diagnosis of skeletal dysplasias.

    Pajkrt, Eva / Chitty, Lyn S

    Prenatal diagnosis

    2019  Volume 39, Issue 9, Page(s) 701–719

    Abstract: Skeletal dysplasias are a heterogeneous group of conditions, many of which present unexpectedly in the prenatal period with a variety of ultrasound findings. Accurate prenatal diagnosis can now be facilitated using exome sequencing approaches, but in ... ...

    Abstract Skeletal dysplasias are a heterogeneous group of conditions, many of which present unexpectedly in the prenatal period with a variety of ultrasound findings. Accurate prenatal diagnosis can now be facilitated using exome sequencing approaches, but in order to interpret results, accurate and detailed phenotyping is required. Here, we describe the sonographic approach to the prenatal diagnosis of skeletal abnormalities and illustrate how taking a systematic approach can facilitate diagnosis.
    MeSH term(s) Bone Diseases, Developmental/diagnostic imaging ; Female ; Genetic Testing ; Humans ; Pregnancy ; Ultrasonography, Prenatal/methods
    Language English
    Publishing date 2019-07-14
    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.5501
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