Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Surfactant therapy of respiratory distress syndrome

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  2. DBCG Kvalitetsdatabase for Brystkræft – resumé af årsrapport 2020

    Publikation: Bidrag til tidsskriftTidsskriftartikelFormidling

  3. Nærdødsoplevelser

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Hjertestop hos en patient med langt QT-syndrom i androgendeprivationsterapi

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Leder - Rosenrot

    Publikation: Bidrag til tidsskriftLederForskning

  1. Prenatal detection rate of major congenital heart defects in Copenhagen from 2015 to 2018

    Publikation: Bidrag til tidsskriftLetterForskningpeer review

  2. National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Why we succeed and fail in detecting fetal growth restriction: A population-based study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Prevalence of Bicuspid Aortic Valve and Associated Aortopathy in Newborns in Copenhagen, Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

In this case report, a pregnant woman chose non-invasive prenatal testing (NIPT) following a combined first-trimester screening showing a risk of trisomy 21 at 1:200. The NIPT was normal, and the sex of the fetus was predicted to be male. At 20 gestational weeks, an ultrasound examination predicted the fetus to be female. Because of these discordant results, an amniocentesis was offered but declined. The child was postnatally tested with a karyotype: 46,XY and found heterozygous for a pathogenic variant in the androgen receptor gene, which may cause partial or complete androgen insensitivity syndrome.

OriginalsprogEngelsk
TidsskriftUgeskrift for Laeger
Vol/bind181
Udgave nummer51
ISSN0041-5782
StatusUdgivet - 16 dec. 2019

ID: 59064636