Screening I e II trimestre e Markers Ecografici

Screening I e II trimestre e Markers Ecografici- Translucenza Nucale (NT)   Osso Nasale (NB)   Tricuspide   Dotto Venoso 


Lo screening ecografico delle anomalie fetali, sia esse legate ad alterazioni cromosomiche o ad anomalie congenite non originate da alterazioni cromosomiche, si avvale di alcuni indicatori (markers)  diversi in rapporto all'epoca gestazionale. 

Nel I trimestre i markers che possono essere utilizzati sono:
  1. Translucenza Nucale (NT)
  2. Osso Nasale
  3. Tricuspide
  4. Dotto Venoso
Tra questi la NT è quella correntemente utilizzata nei test di screening del I trimestre che si basano sull'utilizzo, oltre che della NT, anche di altri parametri, non ecografici, rappresentati da:
  1. età materna
  2. epoca gestazionale
  3. free-beta-hCG
  4. PAPP.A
Per NT, Osso Nasale,Tricuspide e Dotto Venoso cliccare quì
 
Nel II trimestre i markers possono essere distinti in due categorie : 
  1. indicatori biometrici: IUGR, plica nucale, variazioni biometriche di omero e femore, alterazioni del rapporto DBP/Omero e DBP/Femore.
  2. indicatori morfologici: Osso Nasale ed ARSA insieme alla plica nucale sono allo stato considerati i principali markers nello Screening della Sindrome di Down nel corso del II-III trimestre di gravidanza; altri markers sono cisti dei plessi corioidei, intestino iperecogeno, foci iperecogeni intracardiaci (golf ball), arteria ombelicale unica, pielectasie moderate, ventricolomegalie moderate, alterazioni quantitative di liquido amniotico (oligoamnios, poliamnios).


Bibliografia

Bestwick JP, Huttly WJ, Wald NJ. Evaluation of a proposed mixture model to specify the distributions of nuchal translucency measurements in antenatal screening for Down's syndrome. J Med Screen. 2010;17(1):13-8.
Brand A, Dollberg S, Keren A. The prevalence of valvular regurgitation in children with structurally normal hearts: a color Doppler echocardiographic study. Am Heart J. 1992 Jan;123(1):177-80.
Casasbuenas A, Wong AE, Sepulveda W. First-trimester nasal bone length in a normal Latin American population. Prenat Diagn. 2009 Feb;29(2):108-12.
Chung JH, Yang JH, Song MJ, Cho JY, Lee YH, Park SY, Moon MJ, Lim HJ, Choi JS, Kim JO, Shin JS, Ahn HK, Han JY, Kim MY, Choi KH, Ryu HM. The distribution of fetal nuchal translucency thickness in normal Korean fetuses. J Korean Med Sci. 2004 Feb;19(1):32-6.
Cicero S, Avgidou K, Rembouskos G, Kagan KO, Nicolaides KH. Nasal bone in first-trimester  screening for  trisomy 21. Am J Obstet Gynecol 2006; 195: 109–114.
DeVore GR, Falkensammer P, Sklansky MS, Platt LD. Spatio-temporal image correlation (STIC): new technology for evaluation of the fetal heart. Ultrasound Obstet Gynecol. 2003 Oct;22(4):380-7
Faiola S, Tsoi E, Huggon IC, Allan LD, Nicolaides KH. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Ultrasound Obstet Gynecol. 2005 Jul;26(1):22-7.
Falcon O, Faiola S, Huggon I, Allan L, Nicolaides KH. Fetal tricuspid regurgitation at the 11 + 0 to 13 + 6-week scan: association with chromosomal defects and reproducibility of the method. Ultrasound Obstet Gynecol. 2006 Jun;27(6):609-12.
Huggon IC, DeFigueiredo DB, Allan LD. Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11-14 weeks of gestation. Heart. 2003 Sep;89(9):1071-3.
Jou HJ, Wu SC, Li TC, Hsu HC, Tzeng CY, Hsieh FJ.Relationship between fetal nuchal translucency and crown-rump length in an Asian population. Ultrasound Obstet Gynecol. 2001 Feb;17(2):111-4.
Kagan KO, Valencia C, Livanos P, Wright D, Nicolaides KH. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. Ultrasound Obstet Gynecol. 2009 Jan;33(1):18-22.
Kor-Anantakul O, Suntharasaj T, Suwanrath C, Chanprapaph P, Sirichotiyakul S, Ratanasiri T, Vuthiwong C, Geater A. Distribution of normal nuchal translucency thickness: a multicenter study in Thailand. Gynecol Obstet Invest. 2011;71(2):124-8.
Kozlowski P, Knippel AJ, Froehlich S, Stressig R. Additional performance of nasal bone in first trimester screening. Ultraschall Med 2006; 27: 336–339.
Markov D, Chernev T, Dimitrova V, Mazne?kova V. First trimester nuchal translucency thickness in normal fetuses in the Bulgarian population. Akush Ginekol (Sofiia). 2005;44(5):3-8.
Mazzoni GT Jr, Cabral AC, de Lima Faria MM, Castro MJ, de Carvalho Pires M, Johnson DS, Pettersen HN. Ultrasound evaluation of the fetal nasal bone: what is the most appropriate first-trimester cut-off point for aneuploidy screening? Arch Gynecol Obstet. 2011 D
Messing B, Porat S, Imbar T, Valsky DV, Anteby EY, Yagel S. Mild tricuspid regurgitation: a benign fetal finding at various stages of pregnancy. Ultrasound Obstet Gynecol. 2005 Nov;26(6):606-9;discussion 610.
Monni G, Zoppi MA, Ibba RM, Floris M, Manca F, Axiana C. Nuchal translucency and nasal bone for trisomy 21 screening: single center experience. Croat Med J 2005; 46: 786–791.
Moon MH, Cho JY, Lee YM, Lee YH, Yang JH, Kim MY, Park SH. Nasal bone length at 11-14 weeks of pregnancy in the Korean population. Prenat Diagn. 2006 Jun;26(6):524-7.
Nicolaides K.H. L'ecografia delle 11-13 +6 settimane di gravidanza. Fetal Medicine Foundation, Londra.
Novelli A, Grati FR, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone AM, Pecile V, Simoni G, Zuffardi O, Giardino D. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound Obstet Gynecol. 2012 Apr;39(4):384-8.
Orlandi F, Rossi C, Orlandi E, Jakil MC, Hallahan TW, Macri VJ, Krantz DA. First-trimester screening for trisomy-21 using a simplified method to assess the presence or absence of the fetal nasal bone. Am J Obstet Gynecol 2005; 192: 1107–1111.
Ozer A, Ozaksit G, Kanat-Pektas M, Ozer S. First trimester examination of fetal nasal bone in the Turkish population. J Obstet Gynaecol Res. 2010 Aug;36(4):739-44.
Sahota DS, Leung TY, Chan LW, Law LW, Fung TY, Chan OK, Lau TK. First-trimester fetal nasal bone length in an ethnic Chinese population. Ultrasound Obstet Gynecol. 2009 Jul;34(1):33-7.
Salomon LJ, Chalouhi GE, Bernard JP, Ville Y; Société française pour l'amélioration des pratiques échographiques (SFAPE). [Nuchal translucency thickness at 11-14 weeks of gestation: French charts  and equations. J Gynecol Obstet Biol Reprod (Paris). 2009 Dec;38(8):635-41.
Senat MV, Bernard JP, Boulvain M, Ville Y. Intra- and interoperator variability in fetal nasal bone assessment at 11–14 weeks of gestation. Ultrasound Obstet Gynecol 2003; 22: 138–141.
Sepulveda W, Wong AE, Dezerega V. First-trimester ultrasonographic screening for trisomy 21 using fetal nuchal translucency and nasal bone. Obstet Gynecol 2007; 109: 1040–1045. 
SIEOG Linee Guida SIEOG 2010
SIEOG Linee Guida SIEOG 2015 
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 Aug 1;352(9125):343-6.
Spencer K, Bindra R, Nix AB, Heath V, Nicolaides KH. Delta-NT or NT MoM: which is the mostappropriate method for calculating accurate patient-specific risks for trisomy 21 in the first trimester? Ultrasound Obstet Gynecol. 2003 Aug;22(2):142-8.
Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol. 2008 Apr;31(4):376-83.
Zoppi MA, Ibba RM, Floris M, Monni G. Fetal nuchal translucency screening in 12495 pregnancies in  Sardinia.  Ultrasound Obstet Gynecol. 2001 Dec;18(6):649-51.


Aggiornamenti



Med 2000 - Via Nazionale Appia, 81022 Casagiove (CE)
Tel: 0823 493548 (4 linee) | Fax: 0823 494944 | E-mail: info@med2000eco.it | P.Iva 02723040610

Web agency: Bitmatica.it