Nová metoda screeningu Downova syndromu v I. trimestru: One-Stop-Clinic for Assessment of Risk (OSCAR)
Authors:
I. Dhaifalah 1; L. Dusek 2; J. Santavy 1
Authors‘ workplace:
Department of Genetic and Fetal Medicine, University Hospital, Olomouc, Czech Republic
1; Institut of Biostatistics and Analysis, Masaryk University, Brno, Czech Republic
2
Published in:
Ceska Gynekol 2011; 76(4): 292-306
Overview
Cíl:
Představení a zavedení nové metody screeningu Downova syndromu v I. trimestru pomocí měření nuchální translucence, přítomnosti nosní kůstky, PAPP-A (maternal serum pregnancy associated plasma protein-A) a fß-hCG (free β-human chorionic gonadotropin), v tzv. One-Stop-Clinic for Assessment of Risk (OSCAR) v České republice. Dokumentovat efektivitu metody a zavést ji jako screeningovou metodu volby. Upravit a změnit současný systém screeningu.
Metodika:
Prospektivní studie 5010 jednočetných těhotenství matek, které byly vyšetřeny na našem pracovišti prenatálního screeningu chromozomálních a vrozených vývojových vad mezi 11. a 13.+6 týdnem gestace mezi lednem 2005 a prosincem 2007. Těhotenství byla sledována do porodu a výsledek těhotenství je znám.
Závěr:
Screeningové vyšetření se rozhodlo podstoupit 100 % žen, invazivní vyšetření 95 % žen s pozitivním výsledkem screeningu. Všechny předpokládané trizomie 21 byly detekovány, spolu s dalšími chromozomálními aneuploidemi s falešnou pozitivitou 4,4 %. Studie demonstrovala proveditelnost a účinnost metody OSCAR ve screeningu chromozomálních aneuploidií ve fakultní nemocnici.¨
Zavedení vyšetřování nosní kůstky snížilo míru falešné pozitivity a zvýšilo senzitivitu. Ženy, které screening podstoupily, již neabsolvovaly biochemický screning II. trimestru (triple test).
Klíčová slova:
screening Downova syndromu v I. trimestru, One-Stop-Clinic, OSCAR, nuchální translucence, nosní kůstka.
Sources
1. Bindra, R., Heath, V., Liao, A., et al.One Stop Clinic for Assessment of Risk for Trisomy 21 at 11-14 weeks: a prospective study of 15,030 pregnancies. Ultrasound Obstet Gynec, 2002, 20, p. 219-225.
2. Cheng, E., Luthy, D., Zebelman, A., et al. A prospective evaluation of a second-trimester screening test for fetal Down syndrome using maternal serum alpha-fetoprotein, hCG, and unconjugated estriol. Obstet Gynecol, 1993, 81, p. 72-77.
3. Cicero, S., Curcio, P., Papageorghiou, A., et al. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet, 2001, 358, p. 1665-1667.
4. Cuckle, H., Lith, J. Appropriate biochemical parameters in first trimester screening for trisomy 21. Prenat Diagn, 1999, 19, p. 505-512.
5. Dhaifalah, I., Vrbicka, D., Santavy, J. OSCAR (one-stop clinic for assessment of fetal risk): our experience with first trimester screening for chromosomal abnormalities. Ces Gynek, 2006, 71, p. 363-336.
6. Dhaifalah, I., Mičkova, I., Vrbická, D., et al. Advanced maternal age an indication for invasive procedures. Ces Gynek, 2007, 72, p. 181-184.
7. Dhaifalah, I., Santavý, J., Mičková, I., et al. Effectivity of the nasal bone as an ultrasound marker for down syndrom at 11 to 13+6 weeks gestation. Ces Gynek, 2007, 72, p. 19-23.
8. Economides, DL., Whitlow, BJ., Kadir, R., et al. First trimester sonographic detection of chromosomal abnormalities in an unselected population. BJOG, 1998, 105, p. 58-62.
9. Eisenberg, VH., Schenker, JJ. The moral aspects of prenatal diagnosis. Eur J Obstet Gynec Reprod Biol, 1997, 72, p. 35-45.
10. Fost, N. Ethical issues in genetics. Pediat Clin North Amer, 1992, 39, p. 79-89.
11. Gordon, JW. The morality of prenatal diagnosis. Hum Reprod, 1995, 10, p. 767-768.
12. Kellner, L., Weiss, R, Weiner, Z, et al. The advantages of using triple-marker screening for chromosomal abnormalities. Am J Obstet Gynecol, 1995, 172, p. 831-836.
13. MacDonald, M., Wagner, R., Slotnick, R. Sensitivity and specificity of screening for Down syndrome with alpha-fetoprotein, hCG, unconjugated estriol, and maternal age. Obstet Gynec, 1991, 77, p. 63-68.
14. Mori, M., Brambati, B., Tului, L. The current ethical controversy over reproductive medicine: prenatal diagnosis. Hum Reprod, 1995, 10, p. 765-766.
15. Mujezinovic, F., Alfirevic, Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol, 2007, 110, p. 687-694.
16. Nicolaides, KH., Cicero, S., Liao, AW. One-stop clinic for assessment of risk of chromosomal defects at 12 weeks of gestation. Prenat Neonat Med, 2005, 5, p.145-154.
17. Pandya, PP., Goldberg, H., Walton, B., et al. The implementation of first-trimester scanning at 10–13 weeks’ gestation and the measurement of fetal nuchal translucency thickness in two maternity units. Ultrasound Obstet Gynecol,1995, 5, p. 20-25.
18. Papageorghiou, AT., Avgidou, K., Bindra, R., et al. One stop clinic for assessment of risk (OSCAR) for trisomy 21 in singleton pregnancies at 11 to 13 + 6 weeks of gestation. Ultrasound in Obstet Gynecol, 2005, 26, p. 375
19. Said, S., Geary, M., Malone, FD. Women’s satisfaction with the OSCAR (One-Stop Clinic Assessment of Risk) model of first-trimester combined screening. Ultrasound Obstet Gynecol, 2007, p. 377-377.
20. Schafer, D., Arnemann, J., Brude, E., Baumann, R. Society must decide about prenatal diagnosis. Hum Reprod, 1995, 10, p. 768-769.
21. Schuchter, K., Hafner, E., Stangl, G., et al. The first trimester ‘combined test’ for the detection of Down syndrome pregnancies in 4939 unselected pregnancies. Prenat Diagn, 2002, 22, p. 211‑215.
22. Snijders, DJM., Noble, P., Sebire, N., et al. UK multicenter project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. Lancet, 1998, 351, p. 353-356.
23. Snijders, RJ., Thom, EA., Zachary, JM., et al. First-trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol, 2002, 19, p. 353-359.
24. Spencer, K., Souter, V., Tul, N., et al. A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free ß-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol, 1999, 13, p. 231-237.
25. Spencer, K., Spencer, CE., Power, M., et al. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one stop clinic: A review of three years prospective experience. Br J Obstet Gynaecol, 2003, 110, p. 281-286.
26. Tabor, A., Vestergaard, CH., Lidegaard, Q. Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol, 2009, 34, p. 19-24.
27. Torloni, MR., Vedmedovska, N., Merialdi, M., et al. Safety of ultrasonography in pregnancy: WHO systematic review of the literature and meta-analysis. ISUOG-WHO Fetal Growth Study Group.Ultrasound Obstet Gynecol, 2009, 33, p. 599-608.
28. Wald, N., Kennard, A., Hackshaw, A., McGuire, A. Antenatal screening for Down’s syndrome. Health Technol Assess, 1998, 2, p. 1-112.
29. Wald, NJ., Cuckle, HS., Densem, JW., et al. Maternal serum screening for Down’s syndrome: the effect of routine ultrasound scan determination of gestational age and adjustment for maternal weight. Br J Obstet Gynaecol, 1992, 99, p. 144-149.
30. Whitlow, BJ., Chatzipapas, IK., Lazanakis, ML., et al. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. BJOG, 1999, 106, p. 929-936.
Labels
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicineArticle was published in
Czech Gynaecology
2011 Issue 4
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