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Læknablaðið - 15.05.2001, Side 33

Læknablaðið - 15.05.2001, Side 33
FRÆÐIGREINAR / FÓSTURGREINING þýðir. Neikvætt forspárgildi var í rannsókn Nicolaides 99,9% sem þýðir að rannsóknin er mjög góð til að útiloka að sjúkdómurinn sé fyrir hendi (1). Fyrir þau 95% kvenna sem fá neikvætt svar (líkur á litningagalla 1:300 eða minni) fylgir oftast léttir yfir að búið sé að minnka líkur á tilteknum litninga- göllum. Það er ekki síður mikilvægt að vekja athygli verðandi foreldra á þeirri staðreynd að skoðunin hefur verulega minnkað líkur á alvarlegum fósturgöllum. Forspárgildin eru háð næmi og sértæki (specificity) og algengi sjúkdómsins í þýðinu. Fyrir eldri konur, þar sem litningagallar eru algengari, eru jákvæðu og neikvæðu forspárgildin því betri en hjá yngri konunum. Omskoðun við 11-13 vikur getur leitt til grein- ingar á alvarlegum vandamálum hjá fóstri. Við núverandi aðstæður er öllum konum 35 ára og eldri boðið upp á litningarannsókn fósturs, en yngri konum stendur engin fósturgreining til boða með tilliti til litningagalla fósturs. Þegar hægt er að beita öðrum aðferðum en þeim sem einblína á aldur móður til að greina afbrigðilegar þunganir, er eðlilegt að endurskoða þessar reglur. Allir verðandi foreldrar sem þess óska ættu að eiga kost á snemmómskoðun og líkindamati með tilliti til litningagalla hjá fóstri. Heimildir 1. Nicolaides KH, Sebire NJ, Snijders RJM. The 11-14 week scan. The diagnosis af fetal abnormalities. New York, London: The Parthenon Publishing Group; 1999: 33-5. 2. Wisser J, Dirschedl P. Embryonic heart rate in dated human embryos. Early Human Dev 1994; 37:107-15. 3. Main DM, Mennuti MT. Neural tube defects: issues in prenatal diagnosis and counseling. Obstet Gynecol 1986; 67:1. 4. Nicolaides KH, Sebire NJ, Snijders RJM. The 11-14 weeks scan. The diagnosis of fetal abnormalities. New York, London: The Parthenon Publishing Group; 1999: 3-50,131-3. 5. Hyett JA, Moscoso G, Nicolaides KH. Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. Am J Med Genet 1997; 69: 207-16. 6. Hyett JA, Moscoso G, Nicolaides KH. Increased nuchal translucency in trisomy 21 fetuses: relation to narrowing of the aortic isthmus. Hum Reprod 1995; 10: 3049-51. 7. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998; 352: 343-6. 8. Sebire N, Snijders RJ, Davenport M, Greenough A, Nicolaides KH. Fetal nuchal translucency thickness at 10-14 weeks gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997; 90: 943-6. 9. von Kaisenberg CS, Krenn V, Ludwig M, Nicolaides KH, Brand-Saberi B. Morphological classification of nuchal skin in fetuses with trisomy 21, 18 and 13 at 12-18 weeks and in a trisomy 16 mouse. Anat Embryol 1998; 197:105-24. 10. von Kaisenberg CS, Brand-Saberi B, Christ B, Vallian S, Farzaneh F, Nicolaides KH. Collagen type VI gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol 1998; 91:319- 23. 11. Hay E. Cell Biology of Extracellular Matrix. 2nd ed. New York: Plenum Press; 1991:163. 12. Golaz J, Charnay Y, Vallet P, Bouras C. Alzheimer's disease and Down's syndrome. Some recent etiopathogenic data. (Berl) Encephale 1991; 17: 29-31. 13. Chitayat D, Kalousek DK, Bamforth JS. Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet 1989; 33: 352-6. 14. Phibbs RH, Johnson P, Tooley WH. Cardiorespiratory status of erythroblastotic infants: II. Blood volume, hematocrit and serum albumin concentrations in relation to hydrops fetalis. Pediatrics 1974; 53:13. 15. Petrikovsky BM, Baker D, Schneider E. Fetal hydrops secondary to human parvovirus infection in early pregnancy. Prenat Diagn 1996; 16: 342-4. 16. Whitlow BJ, Economides DL. The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 1998; 11: 258- 61. 17. Pandya PP, Altman D, Brizot ML, Pettersen H, Nicolaides KH. Repeatability of measurement of fetal nuchal translucency thickness. Ultrasound Obstet Gynecol 1995; 5: 334-7. 18. Simpson JL. Genetic factors in obstetrics and gynecology. In: Scott RJ, DiSaia PJ, Hammond CB, Spellacy WN, eds. Danforth's Obstetrics and Gynecology. 6th ed. Philadelphia: Lippincott; 1990: 237. 19. Morris JK, Wald NJ, Watt HC. Fetal loss in Down syndrome pregnancies. Prenat Diagn 1999; 19: 142-5. 20. Snijders RJM, Sundberg K, Holzgreve W, Henry G, Nicolaides KH. Maternal age- and gestation- specific risk for trisomy 21. Ultrasound Obstet Gynecol 1999; 13:167-70. 21. Hyett JA, Perdu M, Sharland GK, Snijders RJ, Nicolaides KH. Increased nuchal translucency at 10-14 weeks of gestation as a marker for major cardiacdefects. Ultrasound Obstet Gynecol 1997; 10: 242-6. 22. Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1998; 11: 391-400. 23. Hyett JA, Perdu M, Sharland GK, Snijders RJ, Nicolaides KH. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. Br Med J 1999; 318: 81-5. 24. Ville Y, Lalondrelle C, Doumerc S, Daffos F, Frydman R, Oury JF, et al. First trimester diagnosis of nuchal anomalies. significance and fetal outcome. Ultrasound Obstet Gynecol 1992; 2: 314-6. 25. Fukada Y, Yasumizu T, Takizawa M, Amemiya A, Hoshi K. The prognosis of fetuses with transient nuchal translucency in the first and early second trimester. Acta Obstet Gynecol Scand 1998; 76:913-6. 26. Salvesen KA, Öyen L, Schmidt N, Malt UF, Eik-Nes SH. Comparison of long-term psychological responses of women after pregnancy termination due to fetal anomalies and after perinatal loss. Ultrasound Obstet Gynecol 1997; 9: 80-5. Læknablaðið 2001/87 421
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