Hnakkaþykktarmælingar fósturs hjá konum 35 ára og eldri : niðurstöður frá 1.1.99-31.12.00
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Authors
Hildur HarðardóttirIssue Date
2001-05-01
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Fetal nuchal translucency measurements in women aged 35 and older. Results from 1.1. 99-31.12.00Citation
Læknablaðið 2001, 87(5):455-7Abstract
Objective: Based on a combination of ultrasound fetal nuchal translucency measurement at 11-13 weeks and maternal age, a risk assessment for fetal aneuploidy is calculated. This method identifies a subgroup at risk for fetal aneuploidy, with less invasive testing while increasing the number of fetal aneuploidy cases diagnosed, compared to the current approach in Iceland where fetal aneuploidy risk is based on maternal age only. Material and methods: All women who presented for an ultrasound and counselling in preparation for an amniocentesis, the majority for advanced maternal age, were offered nuchal translucency measurement and risk assessment for fetal aneuploidy. Results: In 1999 a total of 477 nuchal translucency measurements were performed. Ten fetuses (2.1%) had risk assessment for fetal aneuploidy above 1:300 leading to diagnosis of 5/6 (83%) trisomy 21 cases and two other fetal aneuploidy cases within the group. Three fetuses who had increased nuchal translucency and normal karyotype were normal at birth. Three women who underwent an amniocentesis in spite of risk assessment less then 1:300 had aneuploid fetuses. Ultrasound and nuchal translucency measurement lead to the diagnosis of 7/10 fetal aneuploidy cases within the group. In 2000 a total of 418 nuchal tranlucency measurements were performed. Nine fetuses (2.15%) had risk assessment for fetal aneuploidy above 1:300 leading to diagnosis of 1/1 trisomy 21 case and 2/2 other fetal aneuploidy cases within the group. One fetus had multiple anomalies and the pregnancy was terminated without prior karyotyping. Of the five fetuses who had a normal karyotype one had cardiac abnormality and one an omphalocele. The remaining three were healthy at birth. Ultrasound and fetal nuchal translucency measurements lead to the diagnosis of all fetal aneuploidy cases within the group. Conclusions: During 1999 and 2000 ultrasound and fetal nuchal translucency measurements in a selected subgroup at risk for fetal aneuploidy lead to the diagnosis of 7/10 and 3/3 fetal aneuploidy cases with 2.1% positive screen rate.Inngangur: Með ómskoðun fósturs og hnakkaþykktarmælingu við 11-13 vikur ásamt upplýsingum um aldur móður má reikna líkindamat með tilliti til litningagalla fósturs. Þannig má skilgreina betur þann hóp sem hefur auknar líkur á litningagöllum fósturs, gera inngrip markvissari og auka fjölda greindra litningagalla á fósturskeiði, samanborið við núverandi aðferð sem byggir eingöngu á aldri móður. Efniviður og aðferðir: Öllum konum sem komu á fósturgreiningadeild Kvennadeildar í viðtal og ómskoðun til undirbúnings fyrir legvatnsástungu, flestar vegna aldurs, var boðin hnakkaþykktarmæling og líkindamat með tilliti til litningagalla fósturs. Niðurstöður: Árið 1999 voru gerðar 477 hnakkaþykktarmælingar og voru 10 fóstur (2,1%) með líkindamat hærra en 1:300. Hnakkaþykktarmæling leiddi til greiningar á 5/6 (83%) þrístæðu 21 tilfellum í hópnum auk tveggja annarra litningagalla. Þrjú fóstur með aukna hnakkaþykkt voru heilbrigð við fæðingu. Litningagalli fósturs fannst hjá þremur konum sem fóru í legvatnsástungu þrátt fyrir hagstætt líkindamat með tilliti til litningagalla fósturs. Ómskoðun og hnakkaþykktarmæling leiddi til greiningar á 7/10 litningagöllum innan hópsins. Árið 2000 voru gerðar 418 hnakkaþykktarmælingar og voru níu fóstur (2,15%) líkindamat hærra en 1:300. Eitt fóstur var með fjölmarga galla en litningarannsókn var ekki gerð. Þrjú fóstur voru með litningagalla (3/8). Af fimm fóstrum með eðlilega litningagerð var eitt með naflahaul og eitt með alvarlegan hjartagalla. Þrjú fóstur (3/8) með aukna hnakkaþykkt og eðlilega litninga voru heilbrigð við fæðingu. Ómskoðun og hnakkaþykktarmæling leiddi til greiningar á öllum litningagöllum innan hópsins á þessu ári. Ályktanir: Hnakkaþykktarmælingar á Íslandi á árunum 1999 og 2000 leiddu til greiningar á 7/10 og 3/3 litningagöllum fóstra, með aðeins 2% jákvæðri skimun. Þessi árangur er sambærilegur við besta árangur erlendis, þó varhugavert sé að draga of miklar ályktanir af svo fáum skoðunum á stuttum tíma.
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