Læknablaðið - 15.05.2001, Page 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