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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Potential diagnostic consequences of applying non-invasive prenatal testing (NIPT); a population-based study from a country with existing first trimester screening

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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Non-invasive prenatal testing (NIPT) could be an alternative to traditional karyotyping. NIPT tests for trisomies 21, 18 and 13 and sex chromosome aneuploidies. We aimed to determine the risk of missing other abnormal karyotypes of likely phenotypic significance by NIPT.
OriginalsprogEngelsk
TidsskriftUltrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Vol/bind43
Sider (fra-til)265-274
ISSN0960-7692
DOI
StatusUdgivet - 2014

ID: 42476739