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Diagnostica prenatale dei difetti congeniti: tecniche invasive e non invasive

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Book cover Medicina dell’età prenatale

Estratto

I progressi tecnologici nel campo dell’ultrasonografia, della biologia e della genetica molecolare e l’ampliarsi delle conoscenze nel campo delle ricerche genomiche hanno consentito l’affermazione della diagnosi prenatale quale parte integrante non solo dell’ostetricia moderna, ma anche della medicina preventiva.

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Bibliografia

  1. Berlingieri D, Borrelli AL (1988) La diagnostica prenatale per il controllo delle malattie congenite. Relazione alle “Giornate Ginecologiche Campane” Napoli 3–4 Aprile 1987.Antologia Medica Italiana VIII:1–16

    Google Scholar 

  2. Borrelli AL, Cardone A, Ventruto V (2002) Medicina dell’e-tà prenatale. Idelson-Gnocchi Edizioni Scientifiche, Napoli

    Google Scholar 

  3. Golbus MS, Langham MND, Epstein CJ (1979) Prenatal genetic diagnosis in 3000 amniocentesis. N Engl Med J 300:157–163

    Article  CAS  Google Scholar 

  4. Linee guida Società Italiana Diagnosi Prenatale Medicina Materno-Fetale (S.I.Di.P) www.ilfeto.it

    Google Scholar 

  5. Thirkelsen AJ (1979) Cell culture and cytogenetic technique. In: Murken JD, Stengel-Rutkowski S, Schwinger EN (eds) Third European Conference on Prenatal Diagnosis of Genetic Disorders. Ferdinand Enke, Stoccarda, pp 258–270

    Google Scholar 

  6. Callen DF, Eyre H, Yip MY et al (1992) Molecular cytogenetic and clinical studies of 42 patients with marker chromosome. M J Med Genet 43:709–715

    Article  CAS  Google Scholar 

  7. Tabor A, Philip J, Madsen M et al (1986) Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1:1287–1293

    Article  PubMed  CAS  Google Scholar 

  8. Pertl B, Yau SC, Sherlock J et al (1994) Rapid molecular method for prenatal detection of Down’s syndrome. Lancet 343:1197–1198

    Article  PubMed  CAS  Google Scholar 

  9. Levett LJ, Liddle S, Meredith R (2001) A large scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol 17:115–118

    Article  PubMed  CAS  Google Scholar 

  10. Hohlfeld P, Daffos F, Costa JM et al (1994) Prenatal diagnosis of congenital toxoplasmosis with a polymerase-chain-reaction test on amniotic fluid. N Eng J Med 331:695–699

    Article  CAS  Google Scholar 

  11. Weiner CP, Grose C (1990) Prenatal diagnosis of congenital cytomegalovirus infection by virus isolation from amniotic fluid. Am J Obstet Gynecol 163:1253–1255

    PubMed  CAS  Google Scholar 

  12. Canadian Early and Mid Trimestre Amniocentesis Trial Group (1998) Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 351:243–249

    Google Scholar 

  13. Blackwell SC, Abundis MG, Nehra PC (2002) Five-years experience with midtrimester amniocentesis performed by a single group of obstetricians-gynecologists at a community hospital. Am J Obstet Gynecol 186:1130–1132

    Article  PubMed  Google Scholar 

  14. Tongsong T, Wanapirak C, Sirivanatapa P et al (1998) Amniocentesis-related fetal loss: a cohort study. Obstet Gynecol 92:66–67

    Article  Google Scholar 

  15. Elchalal U (2004) Maternal mortality following diagnostic 2nd-trimester amniocentesis. Fetal Diagn Therapy 19:195–198

    Article  Google Scholar 

  16. Penso CA, Sandstorm MM, Garber MF et al (1990) Early amniocentesis: report of 407 cases with neonatal follow-up. Obstet Gynecol 76:1032–1036

    PubMed  CAS  Google Scholar 

  17. Alfirevic Z (2000) Early amniocentesis versus transabdominal chorion villus sampling for prenatal diagnosis. Cochrane database system Rev 2:CD000077

    Google Scholar 

  18. Johnson JM, Wilson RD, Winsor EJ et al (1996) The early amniocentesis study: a randomized clinical trial of early amniocentesis versus midtrimester amniocentesis. Fetal Diagn Ther 11:85–93

    PubMed  CAS  Google Scholar 

  19. Centini G, Rosignoli L, Kenanidis A et al (2003) A report of early (13+0 to 14+6 weeks) and mid-trimestrer amniocentesis: 10 years experience. J Matern Fetal Neonatal Med 14:113–117

    Article  PubMed  CAS  Google Scholar 

  20. Smidt-Jensen S, Hahneman N (1984) Transabdominal fine needle biopsy from chorionic villi in the first trimester. Prenat Diagn 4:163–169

    Article  PubMed  CAS  Google Scholar 

  21. Stewart TL, Malone FD (1999) First trimester screening for aneuplody: nuchal translucency sonography. Semin Perinatol 23:369–381

    Article  PubMed  CAS  Google Scholar 

  22. Alfirevic Z, Gosden CM, Neilson JP (2000) Chorion villus sampling compared with amniocentesis for prenatal diagnosis. Cochrane database of systemic reviews (2):CD000055

    Google Scholar 

  23. Canadian Collaborative CVS-Amniocentesis. Clinical Trial Group (1989) Multicentre randomised clinical trial of chorion villus sampling and amniocentesis. Lancet 1:1–6

    Google Scholar 

  24. Roads GG, Jackson LG, Schlesselman SE et al (1989) The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Eng J Med 320:609–617

    Article  Google Scholar 

  25. WHO/PAHO (1999) Evaluation of chorionic villus sampling safety: WHO/PAHO consultation on CVS. Prenat Diagn 19:97–99

    Article  Google Scholar 

  26. Jackson LG, Zachary JM, Fowler SE et al (1992) A randomised comparison of transcervical and transabdominal chorionic villus sampling. New Engl J Med 327:594–598

    Article  PubMed  CAS  Google Scholar 

  27. Smidt-Jensen S, Permin M, Claes Lundsteen JP et al (1992) Randomized comparison of amniocentesis and transab-dominal and transcervical chorionic villus sampling. Lancet 340:1237–1244

    Article  PubMed  CAS  Google Scholar 

  28. Alfirevic Z, Sundberg K, Brigham S (2003) Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev 3:CD003252

    PubMed  Google Scholar 

  29. Brambati B,Tului L, Cislaghi C, Alberti E (1998) First 10,000 chorionic villus sampling performed in singleton pregnancies by a single operator. Prenatal Diagn 18:225–266

    Article  Google Scholar 

  30. Caughey AB, Hopkins LM, Norton ME (2006) Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Ostet. Gynecol 108:612–616

    Google Scholar 

  31. Monni G, Ibba RM, Lai R et al (1992) Transabdominal chorionic villus sampling: fetal loss rate in relation to maternal and gestational age. Prent Diagn 12:815–820

    Article  CAS  Google Scholar 

  32. Kuliev A, Modell B, Jackson L et al (1993) Risk evaluation of CVS. Prenat Diagn 13:197–209

    Article  PubMed  CAS  Google Scholar 

  33. Golden CM, Ryan LM, Holmes LB (2003) Chorionic villus sampling: a distinctive teratogenic effect on fingers? Birth Defects Res Part A Clin Mol Teratol 67:557–562

    Article  PubMed  CAS  Google Scholar 

  34. Who/Paho (1999) Consultation on CVS. Evaluation of chorionic villus sampling safety. Prenat Diagn 19:97–99

    Article  Google Scholar 

  35. Hahnemann JM, Vejerslev LO (1997) Accuracy of cytogenetic findings on chorionic villus sampling. Diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986–1992. Prenat Diagn 17:801–820

    Article  PubMed  CAS  Google Scholar 

  36. Associazione Italiana di Citogenetica Medica (AICM) (1995) Diagnostica Citogenetica Consensus 1995

    Google Scholar 

  37. Kalousek DK, Vekemans M (1996) Confined placental mosaicism. J Med Genet 33:529–533

    Article  PubMed  CAS  Google Scholar 

  38. Phillips OP, Tharapel AT, Lerner JL et al (1996) Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. Am J Obstet Gynecol 174:850–855

    Article  PubMed  CAS  Google Scholar 

  39. Purvis-Smith SG, Saville T, Manass S et al (1992) Uniparental disomy 15 resulting from “correction” of an initial trisomy 15. Am J Hum Genet 50:1348–1349

    PubMed  CAS  Google Scholar 

  40. Rodeck CH, Campbell S (1979) Umbilical cord insertion as a source of pure fetal blood for prenatal diagnosis. Lancet 1:1244–1245

    Article  PubMed  CAS  Google Scholar 

  41. Weiner CP (1995) Fetal blood sampling and blood thrombocytopenia. Fetal Diagn Therapy 10:173–177

    Article  CAS  Google Scholar 

  42. Nicolaides KH (1988) Cordocentesis. Clin Obstet Gynecol 31:123–135

    Article  PubMed  CAS  Google Scholar 

  43. Nicolaides KH, Soothill PW, Rodeck CH, Campbell S (1986) Ultrasound guided sampling of umbilical cord and placental blood to asses fetal wellbeing. Lancet 1:1065–1067

    Article  PubMed  CAS  Google Scholar 

  44. Ghidini A, Sepulveda W, Lockwood CJ, Romero R (1993) Complications of fetal sampling. Am J Obstet Gynecol 168:1339–1344

    PubMed  CAS  Google Scholar 

  45. Borrelli AL, Valerio D, Zurzolo VS et al (2004) Prenatal Diagnosis of Congenital Diseases: five years experience of prenatal diagnosis centre at the Second University of Naples. Gazzetta Medica Italiana 163:249–256

    Google Scholar 

  46. Parano E, Falcidia E, Grillo A et al (2001) Non invasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cell from maternal blood. Am J Med Genet 101:262–267

    Article  PubMed  CAS  Google Scholar 

  47. Costa JM, Benachi A, Gautier E et al (2002) First-trimester fetal sex determination in maternal serum using real time PCR. Prenat Diagnosis 22:1242

    CAS  Google Scholar 

  48. Hahn S, Zhong XY, Burk MR et al (2000) Multiflex and real-time quantitative PCR on fetal DNA in material plasma. A comparison with fetal cells isolated from maternal blood. Ann N Y Acad Sci Apr 906:148–152

    Article  CAS  Google Scholar 

  49. Ren CC, Wang WJ, Liu GC et al (2004) Detection of fetal SRY gene in maternal plasma by real-time fluorescence quantitative PCR. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:386–388

    PubMed  CAS  Google Scholar 

  50. Benachi A, Steffann J, Gautier E et al (2003) Fetal DNA in maternal serum: does it persist after pregnancy? Hum Genetic 113:76–79

    CAS  Google Scholar 

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Borrelli, A.L., Felicetti, M., Di Domenico, A. (2008). Diagnostica prenatale dei difetti congeniti: tecniche invasive e non invasive. In: Medicina dell’età prenatale. Springer, Milano. https://doi.org/10.1007/978-88-470-0688-1_4

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  • DOI: https://doi.org/10.1007/978-88-470-0688-1_4

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-0687-4

  • Online ISBN: 978-88-470-0688-1

  • eBook Packages: MedicineMedicine (R0)

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