Skip to main content

Screening prenatale, ecografico e biochimico di cromosomopatie

  • Chapter
Medicina dell’età prenatale

Estratto

L’interesse dei ricercatori nell’identificare marcatori di cromosomopatie nasce dalla considerazione che nelle gravide over 35, mediante tecniche invasive, sono diagnosticate solo il 40% circa delle alterazioni cromosomiche mentre il 60% delle cromosomopatie si rileva in nati da gestanti di età inferiore a 35 anni (molto più numerose delle gravide over 35) e senza indicazioni specifiche alla diagnostica invasiva.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Bibliografia

  1. Snijders RLM, Sundberg K, Holzgreve W et al (1999) Maternal age and gestation-specific risk for trisomy 21. Ultrasound Obstet Gynecol 13:167–170

    Article  PubMed  CAS  Google Scholar 

  2. Cariati E, Biagiotti R, Brizzi L et al (2003) Le politiche di screening: primo o secondo trimestre. Atti sodetà italiana di Ginecologia ed Ostetricia Congresso Catania Ottobre 2003, p 135

    Google Scholar 

  3. Nicolaides KH (2003) Screening for chromosomal defects. Ultrasound Obstet Gynecol 21:313–321

    Article  PubMed  CAS  Google Scholar 

  4. Linee guida Società Italiana di Ecografia Ostetrico-Ginecologica (SIEOG) (2006)

    Google Scholar 

  5. Merkatz IR, Nitowsky, HM, Macri JN, Johnson WE (1984) An association between low maternal serum alpha-feto-protein and fetal chromosomal abnormalities. Am J Obstet Gynecol 148:886–894

    PubMed  CAS  Google Scholar 

  6. Wald JN, Cuckle HS, Densem JW et al (1988) Maternal serum screening for Down’s syndrome in early pregnancy. BMJ 297:883–887

    PubMed  CAS  Google Scholar 

  7. Van Lith JM, Pratt JJ, Beekhuis JR, Mantingh A (1992) Second trimester maternal serum immuno-reactive inhibin as a marker for fetal Down’s syndrome. Prenat Diagn 12:801–806

    Article  PubMed  Google Scholar 

  8. Benacerraf BR (1996) The second trimester fetus with Down syndrome: detection using sonographic features. Ultrasound Obstet Gynecol 7:147–155

    Article  PubMed  CAS  Google Scholar 

  9. Rizzo N, Pittalis MC, Pilu, G et al (1996) Distribution of abnormal karyotypes among malformed fetuses detected by ultrasound throughout gestation. Prenat Diagn 16:159–163

    Article  PubMed  CAS  Google Scholar 

  10. Nyberg DA, Souter VI, El Bestawissi A et al (2001) Isolated sonoghraphic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 20:1053–1063

    PubMed  CAS  Google Scholar 

  11. Tongsong T, Sirichotiakul S, Wanapirak C (2002) Sonographic features of T 18 at mid-pregnancy. J Gyn Obstet 28:245–250

    Google Scholar 

  12. Benacerraf B (2002) The significance of the nuchal fold in the second trimester. Prenat Diagn 22:798–801

    Article  PubMed  Google Scholar 

  13. Benacerraf BR, Harlow BL, Frigoletto FD (1990) Hypoplasia of the middle phalanx of the fifth digit a feature of the second trimester fetus with Down’s syndrome. J Ultrasound Med 9:389–394

    PubMed  CAS  Google Scholar 

  14. Shipp TD, Bromley B, Lieberman E, Benacerraf BR (1998) The second trimester fetal iliac angle as a sign of Down’s syndrome. Ultrasound Obstet Gynecol 12:15–18

    Article  PubMed  CAS  Google Scholar 

  15. Yoder PR, Sabbagha RE, Gross SJ, Zelop CM (1999) The second trimester fetus with isolated choroids plexus cyst: a metaanalysis of risk of trisomies 18 and 21. Obstet Gynecol 93:869–872

    Article  PubMed  CAS  Google Scholar 

  16. Zurzolo VS, Borrelli AL (1992) Diagnosi prenatale precoce di cisti dei plessi corioidei fetali associata ad onfalocele. Atti del Congresso Società Campano Calabro Lucana di Ostetricia e Ginecologia. Venosa, maggio 1992, p 115–119

    Google Scholar 

  17. Wickstrom E, Maizels M, Sabbagha RE (1996) Isolated fetal pyelectasis: assessment of the risk for postnatal uropathy and Down syndrome. Ultrasound Obstet Gynecol 8:236–240

    Article  PubMed  CAS  Google Scholar 

  18. Wickstrom EA, Thangavelli M, Parilla BV (1996) A prospective study of the association between isolated fetal pyelectasis and chromosomal abnormality. Obstet Gynecol 88:379–382

    Article  PubMed  CAS  Google Scholar 

  19. Coco C, Jeanty P, Jeanty C (2004) An isolated echogenic heart focus is not an indication for amniocentesis in 12,672 unselected patients. J Ultrasound Med 23:489–496

    PubMed  Google Scholar 

  20. Wax JR, Cartin A, Pinette MG, Blackstone J (2004) Are intracardiac echogenic foci markers of congenital heart disease in the fetus with chromosomal abnormalities? J Ultrasound Med 23:895–898

    PubMed  Google Scholar 

  21. Rembouskos G, Cicero S, Longo C et al (2003) Single umbilical artery at 11–14 weeks gestation: relation to chromosomal defects. Ultrasound 22:567–570

    CAS  Google Scholar 

  22. Gagliotti P, Danelon D, Bontempo S et al (2005) Fetal cerebral ventriculomegaly: outcome in 176 cases. Ultrasound 25:372–377

    Google Scholar 

  23. Bromley B, Lieberman E, Shipp TD, Benacerraf BR (2002) The genetic sonogram, a method of risk assessment for Down’s syndrome in the second trimester. J Ultrasound Med 21:1087–1096

    PubMed  Google Scholar 

  24. Nyberg DA, Luthy DA, Resta RG (1998) Age adjusted ultrasound risk assessment for fetal Down’s syndrome during the second trimester: description of the method and analysis of 142 cases. Ultrasound Obstet Gynecol 12:8–14

    Article  PubMed  CAS  Google Scholar 

  25. Cicero S, Senek JD, Mac Kenna DS et al (2003) Nasal bone hypoplasia in trisomy 21 at 15–22 weeeks’ gestation. Ultrasound Obstet Gynecol 21:15–18

    Article  PubMed  CAS  Google Scholar 

  26. Cullen MT, Gabrielli S, Green JJ et al (1990) Diagnosis and significance of cystic hygroma in the first trimester. Prenatal Diagn 10:643–651

    Article  CAS  Google Scholar 

  27. Mulvey S, Baker L, Edwards A et al (2002) Optimising the timing for nuchal translucency measurement. Prenat Diagn 22:775–777

    Article  PubMed  Google Scholar 

  28. Edwards A, Mulvey S, Wallace EM (2003) The effect of image size on nuchal translucency measurement. Prenat Diagn 23:284–286

    Article  PubMed  Google Scholar 

  29. Whitlow BJ, Chatzipapas IK, Economides DL (1998) The effect of fetal neck position on nuchal translucency measurement. BJOG 105:872–876

    Article  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  31. Snijders RJ, Thorn EA, Zachary JM et al (2002) First trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol 19:353–359

    Article  PubMed  CAS  Google Scholar 

  32. Monni G, Zoppi MA, Ibba RM, Floris M (1997) Results of measurement of nuchal translucency before and after training. Lancet 350:1631

    Article  PubMed  CAS  Google Scholar 

  33. Nicolaides KH, Azar G, Byrne D et al (1992) Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 304:867–889

    Article  PubMed  CAS  Google Scholar 

  34. Borrelli AL, Borrelli P, Felicetti M et al (2004) Nuchal Translucency as an important ultrasound screening tool for the early diagnosis of first trimester chromosomal abnormalities a preliminary experience. Minerva Ginecologica 56:179–180

    PubMed  CAS  Google Scholar 

  35. Hyett JA, Moscoso G, Nicolaides KH (1997) Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. Am J Med Genet 69:207–216

    Article  PubMed  CAS  Google Scholar 

  36. Hyett JA, Perdu M, Sharland GK et al (1999) Using fetal nuchal translucency to screen for major congenital cardiac defects at 10–14 weeks of gestation: population based cohort study. BMJ 318:81–85

    PubMed  CAS  Google Scholar 

  37. Makrydimas G, Sotiriadis A, Ioannidis JP (2003) Screening performance of first trimester nuchal translucency for major cardiac defects: a meta analysis. Am J Obstet Gynecol 189:1330–1335

    Article  PubMed  Google Scholar 

  38. Sebire NJ, Snijders R, Davenport M, Greenough A (1997) Fetal nuchal translucency thickness at 10–14 weeks’ gestation and congenital diaphragmatic hernia. Obstet Gynecol 30:943–946

    Article  Google Scholar 

  39. von Kaiseberg CS, Brand Saberi B, Christ B et al (1998) Collagen type VI gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol 91:319–323

    Article  Google Scholar 

  40. Souka AP, Krampl E, Geerts L, Nicolaides KH (2002) Congenital linphedema presenting with increased nuchal translucency at 13 weeks of gestation. Prenat Diagn 22:91–92

    Article  PubMed  CAS  Google Scholar 

  41. Stiller RJ, Lieberson D, Herzlinger R et al (1999) The association of increased fetal nuchal translucency and spinal muscular atrophy type I. Prenat Diagn 19:587–589

    Article  PubMed  CAS  Google Scholar 

  42. Souka AP, Bower S, Geerts L et al (2002) Blackfan-Diamond anemia presenting with increased nuchal translucency at 12 weeks of gestation. Ultrasound Obstet Gynecol 20:197–199

    Article  PubMed  CAS  Google Scholar 

  43. Smulian JC, Egan JF, Rodis JF (1998) Fetal hydrops in the first trimester associated with maternal parvovirus infection. J Clin Ultrasound 26:314–316

    Article  PubMed  CAS  Google Scholar 

  44. Nicolaides KH, Heath V, Cicero S (2002) Increased fetal nuchal translucency at 11–14 weeks. Prenat Diagn 22:308–315

    Article  PubMed  Google Scholar 

  45. Pandya PP, Snijders RJM, Jhonson SJ et al (1995) Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation BJOG 102:957–962

    Article  CAS  Google Scholar 

  46. Zoppi MA, Ibba RM, Floris M, Monni G (2001) Fetal nuchal translucency screening in 12495 pregnancies in Sardinia. Ultrasound Obstet Gynecol 18:649–651

    Article  PubMed  CAS  Google Scholar 

  47. Snijders RJM, Noble P, Sebire N et al (1998) UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. Lancet 351:343–346

    Article  Google Scholar 

  48. Souka AP, Snijders RJM, Novakov A et al (1998) Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10–14 weeks of gestation. Ultrasound Obstet Gynecol 11:391–400

    Article  PubMed  CAS  Google Scholar 

  49. Souka AP, Krampl E, Bakalis S et al (2001) Outcome of pregnancy in chromosomally normal fetus with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 18:9–17

    Article  PubMed  CAS  Google Scholar 

  50. Muller F, Cuckle HS Teisner B (1993) Serum PAPP-A levels are depressed in women with Down’s syndrome in early pregnancies. Prenatal Diagn 13:633–636

    Article  CAS  Google Scholar 

  51. Macri JN, Kasturi RV, Krantz DA et al (1990) Maternal serum Down’s syndrome screening: free beta protein is a more effective marker than human chorionic gonadotropin. Am J Obstet Gynecol 163:1248–1253

    PubMed  CAS  Google Scholar 

  52. Brambati B, Macintosh MCM, Teisner B et al (1993) Low maternal serum level of pregnancy associated plasma protein (PAPP-A) in the first trimester in association with abnormal fetal karyotype. BJOG 100:324–326

    Article  CAS  Google Scholar 

  53. Cuckle HS, van Lith JM (1999) Appropriate biochemical parameters in first trimester screening for Down’s syndrome Prenat Diagn 19:505–512

    Article  PubMed  CAS  Google Scholar 

  54. Spencer K, Souter V, Tul N et al (1999) 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 13:231–237

    Article  PubMed  CAS  Google Scholar 

  55. Spencer K, Spencer CE, Power M et al (2003) 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 110:281–286

    Article  PubMed  CAS  Google Scholar 

  56. Cicero S, Bindra R, Rembouskos G et al (2003) Integrated ultrasound and biochemical screening for trisomy 21 at 11–14 weeks. Prenat Diagn 23:306–310

    Article  PubMed  Google Scholar 

  57. Wald NJ. Watt HC, Hackshaw AK (1999) Integrated screening for Down’s syndrome on the basis of tests performed during the first and the second trimesters. N Engl J Med 341:461–467

    Article  PubMed  CAS  Google Scholar 

  58. Langdon Down J (1866) Observation on an ethnic classification of idiots. Clinical Lectures and Reports London Hospital 3:259–262

    Google Scholar 

  59. Cicero S, Curcio P, Papageorghiou A et al (2001) Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 358:1665–1667

    Article  PubMed  CAS  Google Scholar 

  60. Viora E, Masturzo B, Errante G et al (2003) Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in consecutive series of 1906 fetuses. Prenat Diagn 23:784–787

    Article  PubMed  CAS  Google Scholar 

  61. Cicero S, Longo D, Rembouskpa G et al (2003) Absent nasal bone at 11–14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol 22:31–35

    Article  PubMed  CAS  Google Scholar 

  62. Cicero S, Rembousko G, Vandecruys H et al (2004) Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at 11–14 weeks scan. Ultrasound Obstet Gynecol 23:218–223

    Article  PubMed  CAS  Google Scholar 

  63. Zoppi MA, Ibba RM, Axinan C et al (2003) Absence of fetal nasal bone and aneuploides at first trimester nuchal treanslucency screening in unselected pregnancies. Prenatal Diagn 23:496–500

    Article  Google Scholar 

  64. Borrelli AL, Felicetti M, Cavallo E et al (2002) L’importanza del dotto venoso nello screening delle cromosomopatie. In: Flebologia (2002). Global Press International Publishing. Giuseppe de Nicola Editore, Napoli, pp 143–147

    Google Scholar 

  65. Falcon O, Faiola S, Huggon I et al (2006) Fetal tricuspid regurgitation at the 11+0 to 13+6 week scan: association with chromosomal defects and reproducibility of the method. Ultrasound Obstet Gynecol 27:609–612

    Article  PubMed  CAS  Google Scholar 

  66. Wald NJ, Rodeck C, Hackshaw AK et al (2003) First and second trimester antenatal screening for Down’s syndrome: the results of the serum, urine and ultrasound screening study (SURUSS). Health Technol Assess 7:1–77

    CAS  Google Scholar 

  67. Malone FD, Ball RH, Nyberg DA et al (2003) First and second trimester evaluation of risk (FASTER) trial: principal results of the NICHD multicenter Down syndrome screening study. Am J Obstet Gynecol 189:S56

    Article  Google Scholar 

  68. Linee Guida Società Italiana di Diagnosi Prenatale e Medicina Materno-Fetale (S. I. Di. P) (2006)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer-Verlag Italia

About this chapter

Cite this chapter

Borrelli, A.L., Felicetti, M., Di Domenico, A. (2008). Screening prenatale, ecografico e biochimico di cromosomopatie. In: Medicina dell’età prenatale. Springer, Milano. https://doi.org/10.1007/978-88-470-0688-1_5

Download citation

  • DOI: https://doi.org/10.1007/978-88-470-0688-1_5

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-0687-4

  • Online ISBN: 978-88-470-0688-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics