Læknablaðið - 15.05.2001, Blaðsíða 52

FRÆÐIGREINAR / FÓSTURGREINING
eljusemi og fyrir margháttaða og vandaða faglega
aðstoð sem hefur komið að miklu gagni. Sömuleiðis
er honum þakkað fyrir að heita okkur stuðnings-
þjónustu við lífefnaskimun ef til kemur.
Andy Ellis umsjónarmanni með ytra gæðamati
forburðarskimunar há UK EQAS er sömuleiðis
þökkuð uppörvandi, vönduð leiðsögn og gæðatengd
gögn sem nýttust vel.
Regine de Almeida svæðisstjóra í alþjóðlegri sölu
hjá Brahms Diagnostics er þakkað fyrir faglegar og
góðar upplýsingar varðandi Kryptor TRACE™
kerfið.
Hagstofa íslands veitti góða aðstoð við öflun
gagna um íslenskt fæðingaþýði og er þakkað.
Heimildir
1. Wald NJ, Lcck I, eds. Antenatal and Neonatal Screening. 2nd
ed. Oxford: Oxford University Press; 2000:1., 2., 4., 23.
2. Proposed International Guidelines on Ethical Issues in
Medical Genetics and Genetic Services, Report of a WHO
Meeting on Ethical Issues in Medical Genetics, Geneva, 15-16
December 1997. http://www.who.int/ncd/hgn/hgnethic
3. Cuckle H, Sehmi I. Calculating correct Down's syndrome
risks. Br J Obstet Gynaecol 1999; 106: 371-2.
4. 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.
5. Cuckle HS, Wald NJ, Thompson SG. Estimating a woman's
risk of having a pregnancy associated with Down's syndrome
using her age and serum alpha-fetoprotein level. Br J Obstet
Gynaecol 1987; 94: 387-402.
6. Nicolaides KH, Sebire NJ, Snijder RJM. The 11-14-week scan.
The diagnosis of fetal abnormalities. New York: The
Parthenon Publishing Group. Diploma in Fetal Medicine
Series; 1999.
7. Hattori M, Fujiyama A, Taylor TD, Watanabe JH, Yada T,
Parks HS, et at. The DNA sequence of human chromosome
21. The chromosome 21 mapping and sequencing consortium.
Nature 2000; 405:311-9.
8. Brahms Diagnostics http://www.brahms.de
9. Lejeune J, Gautier M, Turpin R. Étude des chromosomes
somatiques de neuf enfants mongoliens. Compt Rend Acad
Sci 1959; 248:1721-2.
10. Steele MW, Breg WR. Chromosome analysis of human
amniotic-fluid cells. Lancet 1966; i: 383-5.
11. Merkatz IR, Nitowksy HM, Macri JN, Johnson WE. An
association between low maternal serum alpha-fetoprotein
and fetal chromosomal abnormalities. Am J Obstet Gynecol
1984; 148: 886-94.
12. Wald NJ, Kennard A, Hackshaw A, Mc Guire A. Antenatal
screening for Down's syndrome. J Med Screen 1997; 4: 181-
246.
13. Spencer K. Second trimester prenatal screening for Down's
syndrome using alpha-fetoprotein and free beta hCG: a seven
year review. Br J Obstet Gynaecol 1999; 106:1287-93.
14. Wald NJ, Cuckle HS, Densem JW, Nanchahal K, Royston P,
Chard T, et al. Maternal serum screening for Down's
syndrome in early pregnancy. Br Med J 1988; 297: 883-7.
15. Spencer K, Coombes EJ, Mallard AS, Ward AM. Free beta
human choriogonadotropin in Down's syndrome screening: a
multicenter study of its role compared with other biochemical
markers. Ann Clin Biochem 1992; 29: 506-18.
16. Wald NJ, Hackshaw AK. Combining ultrasound and
biochemistry in first trimester screening for Down's syndrome.
Prenat Diagn 1997; 17: 821-9.
17. Spencer K, Souter V, Tul N, Snijders, Nicolaides KH.
Screening program for trisomy 21 at 10-14 weeks using fetal
nuchal translucency, maternal serum free p-human chorionic
gonadotrophin and pregnancy-associated plasma protein-A.
Ultrasound Obstet Gynacol 1999; 13:231-7.
18. Logical Medical Systems Ltd, London UK.
http://www.lmsalpha.co.uk
19. Töluleg skrifleg gögn um frjósemi kvenna á íslandi 1990-1999.
Hagstofa íslands.
20. UK EQAS for peptide hormones and related subtances. UK
EQAS, Department of Clinical Biochemistry, Royal Infirmary
of Edinburgh, Edinburgh, UK.
21. Spencer K. Screening for trisomy 21 in twin pregnancies in the
first trimester using free P-hCG and PAPP-A, combined with
fetal nuchal translucency thickness. Prenat Diagn 2000; 20:91-
5.
22. Tul N, Spencer K, Noble P, Chan C, Nicolaides K. Screening
for Trisomy 18 by Fetal Nuchal Translucency and Maternal
Serum Free p-hCG and PAPP-A at 10-14 Weeks of Gestation.
Prenat Diagn 1999; 19:1035-42
23. Spencer K, Ong C, Skentou H, Liao AW, Nicolaides KH.
Screening for trisomy 13 by fetal nuchal translucency and
maternal serum free p-hCG and PAPP-A at 10-14 weeks of
gestation. Prenat Diagn 2000; 20:411-6.
24. Spencer K, Liao AWJ, Skentou H, Cicero S, Nicolaides KH.
Screening for triploidy by fetal nuchal translucency and
maternal serum free P-hCG and PAPP-A at 10-14 weeks of
gestation. Prenat Diagn 2000; 20: 495-9.
25. Spencer K, Tul N, Nicolaides KH. Maternal serum free p-hCG
and PAPP-A in fetal sex chromosome defects in the first
trimester. Prenat Diagn 2000; 20: 390-4.
26. Spencer K, Ong CYT, Liao AWJ, Nicolaides KH. The
influence of ethnic origin on first trimester biochemical
markers of chromosomal abnormalities. Prenatat Diagn 2000;
20:491-4.
27. Spencer K. The Influence of Smoking on Maternal Serum
PAPP-A and Free Beta hCG Levels in the First Trimester of
Pregnancy [short communication]. Prenat Diagn 1999; 19:
1065-6.
28. Spencer K, Ong CYT, Liao AWJ, Papademetriou D,
Nicolaides KH. First trimester markers of trisomy 21 and the
influence of maternal cigarette smoking status [letter to the
editors]. Prenat Diagn 2000; 20: 851-6.
29. Spencer K, Ong CYT, Liao AW, Papademetriou D, Nicolaides
KH. The influence of fetal sex in screening for trisomy 21 by
fetal nuchal translucency, maternal serum free P-hCG and
PAPP-A at 10-14 weeks of gestation [short communication].
Prenat Diagn 2000; 20:673-5.
30. Spencer K., Ong CYT, Liao AWJ, Nicolaides KH. The
influence of parity and gravidity on first trimester markers of
chromosomal abnormality. Prenat Diagn 2000; 20:792-4.
31. Stevenson HP, Leslie H, Sheridan B. Serum free P-human
chorionic gonadotrophin concentrations increase in
unseparated blood specimens [short report]. Ann Clin
Biochem 1993; 30: 99-100.
32. Spencer K, Spencer CE, Power M, Moakes A, Nicolaides KH.
One stop clinic for assessment of risk for fetal anomalies: a
report of the first year of prospective screening for
chromosomal anomalies in the fírst trimester. Br J Obstet
Gynaecol 2000; 107:1271-5.
33. Ong CYT, Liao AW, Spencer K, Munim S, Nicolaides KH.
First trimester maternal serum free p human chorionic
gonadotrophin and pregnancy associated plasma protein A as
predictor of pregnancy complications. Br J Obstet Gynaecol
2000; 107:1265-70.
34. Wald NJ, Hackshaw AK. Advances in antenatal screening for
Down syndrome. Baillieres Best Pract Clin Obstet Gynaecol
2000; 14: 563-80.
35. Wald NJ, Watt HC, Hackshaw AK. Integrated screening for
Down's syndrome based on tests performed during the first
and second trimesters. N Engl J Med 1999; 341: 461-7.
Stefnumarkandi gögn
Proposed International Guidelines on Ethical Issues in Medical
Genetics and Genetic Services, Report of a WHO Meeting on
Ethical Issues in Medical Genetics, Geneva, 15-16 December
1997. http://www.who.int/ncd/hgn/hgnethic
Evrópuráðiö. Ráðherranefndin. Ráðleggingar/tillögur til aðildar-
ríkjanna (Council of Europe. Committee of Ministers.
Recommendations to Member States). http://www.cm. coe.int/
indexes/r.O.html
Tilmæli Ráðherranefndarinnar R (92) 3 til aðildarríkjanna um
erfðaprófanir og erfðaskimun í heilbrigðisskyni (samþykkt 10.
febrúar 1992). http://www.landlaeknir.is/prentvaent. asp?lang=is
&skjal=05,01,02,03
Tilmæli Ráðherranefndarinnar R (90) 13 til aðildarríkja varðandi
forburðarerfðaskimun, forburðarerfðagreiningu og erfðaráðgjöf
þeim tengda (samþykkt 21. júní 1990). http.V/www. landlaeknir.is
/default.asp?lang=is&skjal=05,01,01,06
Lög um ráðgjöf og fræðslu varðandi kynlíf og bameignir og um
fóstureyðingar og ófijósemisaðgerðir. Lög nr. 25, 22. maí 1975.
http://www.althingi.is/lagasofn/126a/ 1975025.html
440 Læknablaðið 2001/87
J