Læknablaðið

Ukioqatigiit

Læknablaðið - 15.05.2001, Qupperneq 33

Læknablaðið - 15.05.2001, Qupperneq 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
Qupperneq 1
Qupperneq 2
Qupperneq 3
Qupperneq 4
Qupperneq 5
Qupperneq 6
Qupperneq 7
Qupperneq 8
Qupperneq 9
Qupperneq 10
Qupperneq 11
Qupperneq 12
Qupperneq 13
Qupperneq 14
Qupperneq 15
Qupperneq 16
Qupperneq 17
Qupperneq 18
Qupperneq 19
Qupperneq 20
Qupperneq 21
Qupperneq 22
Qupperneq 23
Qupperneq 24
Qupperneq 25
Qupperneq 26
Qupperneq 27
Qupperneq 28
Qupperneq 29
Qupperneq 30
Qupperneq 31
Qupperneq 32
Qupperneq 33
Qupperneq 34
Qupperneq 35
Qupperneq 36
Qupperneq 37
Qupperneq 38
Qupperneq 39
Qupperneq 40
Qupperneq 41
Qupperneq 42
Qupperneq 43
Qupperneq 44
Qupperneq 45
Qupperneq 46
Qupperneq 47
Qupperneq 48
Qupperneq 49
Qupperneq 50
Qupperneq 51
Qupperneq 52
Qupperneq 53
Qupperneq 54
Qupperneq 55
Qupperneq 56
Qupperneq 57
Qupperneq 58
Qupperneq 59
Qupperneq 60
Qupperneq 61
Qupperneq 62
Qupperneq 63
Qupperneq 64
Qupperneq 65
Qupperneq 66
Qupperneq 67
Qupperneq 68
Qupperneq 69
Qupperneq 70
Qupperneq 71
Qupperneq 72
Qupperneq 73
Qupperneq 74
Qupperneq 75
Qupperneq 76
Qupperneq 77
Qupperneq 78
Qupperneq 79
Qupperneq 80
Qupperneq 81
Qupperneq 82
Qupperneq 83
Qupperneq 84
Qupperneq 85
Qupperneq 86
Qupperneq 87
Qupperneq 88
Qupperneq 89
Qupperneq 90
Qupperneq 91
Qupperneq 92
Qupperneq 93
Qupperneq 94
Qupperneq 95
Qupperneq 96
Qupperneq 97
Qupperneq 98
Qupperneq 99
Qupperneq 100
Qupperneq 101
Qupperneq 102
Qupperneq 103
Qupperneq 104
Qupperneq 105
Qupperneq 106
Qupperneq 107
Qupperneq 108
Qupperneq 109
Qupperneq 110
Qupperneq 111
Qupperneq 112

x

Læknablaðið

Direct Links

Hvis du vil linke til denne avis/magasin, skal du bruge disse links:

Link til denne avis/magasin: Læknablaðið
https://timarit.is/publication/986

Link til dette eksemplar:

Link til denne side:

Link til denne artikel:

Venligst ikke link direkte til billeder eller PDfs på Timarit.is, da sådanne webadresser kan ændres uden advarsel. Brug venligst de angivne webadresser for at linke til sitet.