Diagnostyka prenatalna w praktyce. Отсутствует

Diagnostyka prenatalna w praktyce - Отсутствует


Скачать книгу
Fetal Medicine Database: establishment, organization and quality assessment of the first trimester screening program for trisomy 21 in Denmark 2008–2012. Acta Obstet. Gynecol. Scand. 2015 Jan 19. doi: 10.1111/aogs.12581.

      9. Snijders R.J.M., Nicolaides K.H. Sequential screening. [W:] Ultrasound Markers for Fetal Chromosomal Defects. (Nicolaides K.H. red.). Parthenon Publishing, Carnforth 1996: 109–113.

      10. Pandya P.P., Snijders R.J., Johnson S.P. i wsp. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br. J. Obstet. Gynaecol. 1995; 102: 957–962.

      11. Snijders R.J., Noble P., Sebire N. i wsp. 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: 343–346.

      12. Spencer K., Spencer C.E., Power M. i wsp. 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. BJOG 2003; 110: 281–286.

      13. Trauffer P.M., Anderson C.E., Johnson A. i wsp. The natural history of euploid pregnancies with first-trimester cystic hygromas. Am. J. Obstet. Gynecol. 1994; 170: 1279–1284.

      14. Ville Y., Lalondrelle C., Doumerc S. i wsp. First-trimester diagnosis of nuchal anomalies: significance and fetal outcome. Ultrasound Obstet. Gynecol. 1992; 2: 314–316.

      15. Comas C., Martinez J.M., Ojuel J. i wsp. First-trimester nuchal edema as a marker of aneuploidy. Ultrasound Obstet. Gynecol. 1995; 5: 26–29.

      16. Sebire N.J., Snijders R.J., Brown R. i wsp. Detection of sex chromosome abnormalities by nuchal translucency screening at 10–14 weeks. Prenat. Diagn. 1998; 18: 581–584.

      17. Nicolaides K.H. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am. J. Obstet. Gynecol. 2004; 191: 45–67.

      18. Pajkrt E., de Graaf I.M., Mol B.W. i wsp. Weekly nuchal translucency measurements in normal fetuses. Obstet. Gynecol. 1998; 91: 208–211.

      19. Schuchter K., Wald N., Hackshaw A.K. i wsp. The distribution of nuchal translucency at 10–13 weeks of pregnancy. Prenat. Diagn. 1998; 18: 281–286.

      20. Czuba B., Borowski D., Cnota i wsp. Ultrasonographic assessment of fetal nuchal translucency (NT) at 11th and 14th week of gestation – Polish multicentre study. Neuro Endocrinol. Lett. 2007; 28: 175–181.

      21. Spencer K., Souter V., Tul N. i wsp. A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet. Gynecol. 1999; 13: 231–237.

      22. Nicolaides K., Węgrzyn P. Badanie ultrasonograficzne między 11+0–13+6 tygodniem ciąży. Termedia, Londyn-Poznań 2004.

      23. Gyselaers W.J., Vereecken A.J., Van Herck E.J. i wsp. Audit on nuchal translucency thickness measurements in Flanders, Belgium: a plea for methodological standardization. Ultrasound Obstet. Gynecol. 2004; 24: 511–515.

      24. Czuba B. First trimester screening in Poland. [W:] Ist International Congress in Fetal Medicine, 8–10.09.2008, Warsaw.

      25. http://www.imid.med.pl/pl/main-menu/dzialalnosc-kliniczna/zaklady/zaklady/zaklad-genetyki-medycznej.

      26. Whitlow B.J., Economides D.L. The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. Ultrasound Obstet. Gynecol. 1998; 11: 258–261.

      27. Braithwaite J.M., Economides D.L. The measurement of nuchal translucency with transabdominal and transvaginal sonography – success rates, repeatability and levels of agreement. Br. J. Radiol. 1995; 68: 720–723.

      28. Whitlow B.J., Chatzipapas I.K., Economides D.L. The effect of fetal neck position on nuchal translucency measurement. Br. J. Obstet. Gynaecol. 1998; 105: 872–876.

      29. Braithwaite J.M., Morris R.W., Economides D.L. Nuchal translucency measurements: frequency distribution and changes with gestation in a general population. Br. J. Obstet. Gynaecol. 1996; 103: 1201–1204.

      30. Pandya P.P., Altman D.G., Brizot M.L. i wsp. Repeatability of measurement of fetal nuchal translucency thickness. Ultrasound Obstet. Gynecol. 1995; 5: 334–337.

      31. Schaefer M., Laurichesse-Delmas H., Ville Y. The effect of nuchal cord on nuchal translucency measurement at 10–14 weeks. Ultrasound Obstet. Gynecol. 1998; 11: 271–273.

      32. Michailidis G.D., Economides D.L. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet. Gynecol. 2001; 17: 102–105.

      33. Souka A.P., Krampl E., Bakalis S. i wsp. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet. Gynecol. 2001; 18: 9–17.

      34. Hyett J., Moscoso G., Nicolaides K. Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. Am. J. Med. Genet. 1997; 69: 207–216.

      35. Hyett J., Perdu M., Sharland G. i wsp. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10–14 weeks of gestation: population based cohort study. BMJ 1999; 318: 81–85.

      36. Makrydimas G., Sotiriadis A., Ioannidis J.P. Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis. Am. J. Obstet. Gynecol. 2003; 189: 1330–1335.

      37. Slavotinek A., Lee S.S., Davis R. i wsp. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J. Med. Genet. 2005; 42: 730–736.

      38. Sebire N.J., Souka A., Skentou H. i wsp. Early prediction of severe twin-to-twin transfusion syndrome. Hum. Reprod. 2000; 15: 2008–2010.

      39. Matias A., Montenegro N., Areias J.C. Anticipating twin-twin transfusion syndrome in monochorionic twin pregnancy. Is there a role for nuchal translucency and ductus venosus blood flow evaluation at 11–14 weeks? Twin Res. 2000; 3: 65–70.

      40. Nicolaides K.H., Sebire N.J., Snijders J.M. Crown rump length in chromosomally abnormal fetuses. [W:] The 11–14-week Scan – The Diagnosis of Fetal Abnormalities (Nicolaides K.H. red.). Parthenon Publishing, New York 1996: 31–33.

      41. Cicero S., Nicolaides K.H. Ultrasonograficzne objawy zaburzeń chromosomalnych. [W:] Badanie ultrasonograficzne między 11+0–13+6 tygodniem ciąży. (Nicolaides K.H., Węgrzyn P. red.). Termedia, Londyn-Poznań 2004: 53–78.

      42. Cicero S., Curcio P., Papageorghiou A. i wsp. Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001; 358: 1665–1667.

      43. Cicero S., Rembouskos G., Vandecruys H. i wsp. Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11–14-week scan. Ultrasound Obstet. Gynecol. 2004; 23: 218–223.

      44. Borrell A., Martinez J.M., Seres A. i wsp. Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy. Prenat. Diagn. 2003; 23: 921–926.

      45. Maiz N., Valencia C., Kagan K.O. i wsp. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet. Gynecol. 2009; 33: 512–517.

      46. Maiz N., Wright D., Ferreira A.F. i wsp. A mixture model of ductus venosus pulsatility index in screening for aneuploidies at 11–13 weeks’ gestation. Fetal Diagn. Ther. 2012; 31: 221–229.

      47. Wright D., Syngelaki A., Bradbury I. i wsp. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn. Ther. 2014; 35: 118–126.

      48. Falcon O., Auer M., Gerovassili A. i wsp. Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal


Скачать книгу