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Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Howell, Susan ; Davis, Shanlee M. ; Thompson, Talia ; Brown, Mariah ; Tanda, Tanea ; Kowal, Karen ; Alston, Amanda ; Ross, Judith ; Tartaglia, Nicole R.

Journal of genetic counseling, 2023-02, Vol.32 (1), p.250-259 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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  • Título:
    Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance
  • Autor: Howell, Susan ; Davis, Shanlee M. ; Thompson, Talia ; Brown, Mariah ; Tanda, Tanea ; Kowal, Karen ; Alston, Amanda ; Ross, Judith ; Tartaglia, Nicole R.
  • Assuntos: Aneuploidy ; Births ; Childbirth & labor ; Chromosomes ; Counseling ; decision‐making ; Diagnostic tests ; Discordance ; Female ; Genetic counseling ; genetic testing ; Humans ; Infants ; Infertility ; Medical diagnosis ; Non-invasive ; noninvasive prenatal screening ; Noninvasive Prenatal Testing ; Phenotypes ; Pregnancy ; Prenatal care ; prenatal diagnosis ; Prenatal Diagnosis - methods ; Prenatal testing ; Sex Chromosome Aberrations ; sex chromosome aneuploidy ; Sex chromosomes ; Supernumerary ; Tests ; Timing ; Variants
  • É parte de: Journal of genetic counseling, 2023-02, Vol.32 (1), p.250-259
  • Notas: ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
    content type line 23
    AUTHOR CONTRIBUTIONS
    Susan Endres Howell: Conceptualization; data curation; investigation; project administration; writing –original draft. Shanlee Davis: Data curation; formal analysis; investigation; validation; writing –review and editing. Talia Thompson: Conceptualization; formal analysis; investigation; methodology; software; validation; writing –review and editing. Mariah Brown: Data curation; project administration; supervision; validation; writing –review and editing. Tanea Tanda: Conceptualization; investigation; project administration; supervision; writing –review and editing. Karen Kowal: Data curation; investigation; project administration; supervision; writing –review and editing. Amanda Alston: Data curation; investigation; project administration; supervision; writing –review and editing. Judith Ross: Data curation; funding acquisition; investigation; project administration; resources; supervision; writing –review and editing. Nicole Tartaglia: Conceptualization; formal analysis; funding acquisition; investigation; resources; supervision; visualization; writing –review and editing. Authors Susan Howell, Shanlee Davis, Talia Thompson and Nicole Tartaglia confirm that they had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. All of the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
  • Descrição: Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately one of 500 live births. Clinical phenotypes are highly variable resulting in previous ascertainment rates estimated to be only 10%–25% during a lifetime. Historically, prenatal SCA diagnoses were incidental findings, accounting for ≤10% of cases, with the majority of diagnoses occurring postnatally during evaluations for neurodevelopmental, medical, or infertility concerns. The initiation of noninvasive prenatal screening (NIPS) in 2012 and adoption into standardized obstetric care provides a unique opportunity to significantly increase prenatal ascertainment of SCAs. However, the impact NIPS has had on ascertainment of SCAs is understudied, particularly for those who may defer diagnostic testing until after birth. This study evaluates the timing of diagnostic testing following positive NIPS in 152 infants with SCAs and potential factors influencing this decision. Eighty‐seven (57%) elected to defer diagnostic testing after a positive NIPS until birth, and 8% (7/87) of those confirmed after birth were found to have discordant results on postnatal diagnostic testing, most of which would have influenced genetic counseling.
  • Editor: United States: Blackwell Publishing Ltd
  • Idioma: Inglês
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