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Ómskoðun fósturs við 11-13 vikur, hnakkaþykktarmæling og líkindamat með tilliti til litningagalla og hjartagalla

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Authors
Hildur Harðardóttir

Issue Date
2001-05-01

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Other Titles
Fetal nuchal translucency measurement at 11-13 weeks and risk assessment for fetal aneuploidy and cardiac anomalies
Citation
Læknablaðið 2001, 87(5):415-21
Abstract
Ultrasound is currently an integral part of prenatal care. In Iceland, all women are offered one ultrasound examination at 18-20 weeks, to assess fetal health, number of fetuses, placental location and to calculate the estimated due date. Also, about one third will have an early ultrasound examination due to pain, bleeding or uncertain dates. All women, aged 35 and older, are offered an amniocentesis for fetal karyotyping, due to the increased rate of chromosomal abnormalities with advancing maternal age. Younger women are not routinely offered fetal karyotyping. In this review, a method is described that can estimate the risk of chromosomal abnormalities based on an ultrasound examination at 11-13 weeks. The fetal crown rump length and nuchal translucency are measured in a sagittal view. Based on these measurements as well as maternal age, risk assessment for fetal aneuploidy is performed. A screen positive rate of 8% is expected if risk assessment for fetal aneuploidy is 1:300 or higher. This translates into 8% procedure rate for fetal karyotyping. This approach leads to the diagnosis of the majority of all fetal trisomies. The method was developed by the Fetal Medicine Foundation, London, and is now widely used throughout Europe and Canada. The institution teaches the methodology and offers continuous audit for quality assurance. If this methodology were to be applied in Iceland the procedure rate for fetal karyotyping could be reduced from 13% to 8% while improving diagnosis of trisomy 21 from 30% to 80%. The option of offering all expecting couples an early ultrasound and risk assessment for fetal trisomies should be considered.
Ómskoðun á meðgöngu er í dag hluti af hefðbundinni mæðravernd. Á Íslandi er öllum konum boðin ómskoðun við 18-20 vikur en um þriðjungur kvenna fer auk þess í snemmómskoðun, til dæmis vegna blæðinga, verkja eða óvissrar meðgöngulengdar. Konum sem eru 35 ára og eldri er boðið upp á legvatnsástungu vegna aukinnar tíðni litningagalla sem fylgir hækkandi aldri móður en yngri konur eiga ekki kost á ástungu eða öðru mati á heilbrigði fósturs, en því sem fæst með ómskoðun við 18-20 vikur. Hér er sagt frá aðferð til að meta líkur á litningagalla hjá fóstri, sem hægt er að gera með ómskoðun við 11-13 vikur. Við ómskoðun er mæld haus-daus lengd fósturs og hnakkaþykkt í þykktarskurði og út frá þessum breytum ásamt aldri móður eru reiknaðar líkur á litningagalla hjá fóstri. Miðað við líkindamat 1:300 og hærra má búast við að 8% kvenna hafi jákvæða skimun fyrir þrístæðum fósturs og fari í legvatnsástungu eða fylgjusýnistöku til greiningar á litningagerð fósturs. Þessi aðferð getur leitt til greiningar á meirihluta þrístæðutilfella á fósturskeiði. Aðferðin var þróuð af Fetal Medicine Foundation í London og er nú útbreidd í meira en 40 löndum og almennt notuð í Bretlandi, víðar í Evrópu og í Kanada. Ef niðurstöður þaðan eru heimfærðar upp á íslenskar aðstæður mætti fækka inngripum til greiningar á litningagerð fósturs úr 13% niður í 8% en á sama tíma auka greiningarhlutfall þrístæðu 21 úr 30% í 80%. Til greina kemur að bjóða öllum verðandi foreldrum, sem þess óska, að fara í snemmómskoðun og reikna líkindamat með tilliti til litningagalla fósturs.
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Icelandic Journal Articles (Peer Reviewed)

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