Prenatal diagnosis: Medical education;Prenatal tani

Turkiye Klinikleri Journal of Medical Sciences

Volumn 26, Issue 6, 2006, Pages 666-674

  Yararbaş, Kanay ^a   Ilgin Ruhi, Hatice ^a  

^a ANKARA UNIVERSITY   (Turkey)

Author keywords

Chromosome aberrations; Diagnosis; Maternal age; Prenatal diagnosis; Ultrasonography

Indexed keywords

CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; DOWN SYNDROME; HUMAN; MEDICAL DECISION MAKING; MEDICAL EDUCATION; MEDICAL PRACTICE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; REVIEW;

EID: 33846042432     PISSN: 13000292     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (39)

1. Ogilvie CM. Prenatal diagnosis for chromosome abnormalities: Past, present, future. Pathol Biol 2003;51:156-60.
2. Walker M, Pandya P. Cost benefit analysis of prenatal diagnosis for Down syndrome using the British or the American approach. Obstet Gynecol 2000;96:481.
3. Levi S. Ultrasound in prenatal diagnosis: Polemics around routine ultrasound screening for second trimester fetal malformations. Prenat Diagn 2002;22:285-95.
4. Dugoff L. Ultrasound diagnosis of structural abnormalities in the first trimester. Prenat Diagn 2002;22:316-20.
5. Stoll C, Clementi M; Euroscan study Group. Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe. Ultrasound Obstet Gynecol 2003;21:543-51.
6. DeVore GR, Romero R. Genetic sonography: An option for women of advanced maternal age with negative triple-marker maternal serum screening results. J Ultrasound Med 2003;22:1191-9.
7. Perrella R, Duerinckx AJ, Grant EG, Tessler F, Tabsh K, Crandall BF. Second-trimester sonographic diagnosis of Down syndrome: Role of femur length shortening and nuchal-fold thickening. AJR Am J Roentgenol 1988;151:981-5.
8. Newberger DS. Down syndrome: Prenatal risk assessment and diagnosis. Am Fam Physician 2000;62:825-32.
9. Nyberg DA, Souter VL. Use of genetic sonography for adjusting the risk for fetal Down syndrome. Semin Perinatal 2003;27:130-44.
10. Egan, JF. The genetic sonogram in second trimester Down syndrome screening. Clin Obstet Gynecol 2003;46:897-908.
11. Sherer D, Miller KS, Woods JR Jr. Prenatal sonographic diagnosis of severe nonimmune hydrops in a Down syndrome fetus at 16 weeks of gestation. Am J Med Genet 1991;39:458-60.
12. Ferriman E, Cuckle H. Case report: Clinical utility of ultrasound nasal bone determination in the prenatal diagnosis of Down syndrome. Prenat Diagn 2003;23:433-4.
13. Summers AM, Farrell SA, Huang T, Meier C, Wyatt PR. Maternal serum screening in Ontario using the triple marker test. J Med Screen 2003;10:107-11.
14. Viscarello RR, Gollin YG, Bobbins JC. Alternate methods of first trimester diagnosis. Diagnostic Ultrasonography 1991;18:875-90.
15. Ilgin-Ruhi H. Doǧum öncesi tanida ilk 580 olguluk deneyim. Optimal Tip Dergisi 2004;17:35-40.
16. Rosen DJ, Kedar I, Amiel A, et al. A negative second trimester triple test and absence of specific USG markers may decrease the need for genetic amniocentesis in advanced maternal age by 60%. Prenat Diagn 2002;22:59-63.
17. Ilgin-Ruhi H, Yurur-Kutlay N, Tukun A, Bokesoy I. The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesisin Turkey. Eur J Med Genet 2005;48:13-9.
18. Cuckle H, Arbuzova S, Spencer K, et al. Frequency and clinical consequences of extremely high maternal serum PAPP-A levels. Prenat Diagn 2003;23:385-8.
19. Christiansen M, Jaliashvili I. Total pregnancy-associated plasma protein A-a first trimester maternal serum marker for Down's syndrome: Clinical and technical assessment of a poly-monoclonal enzyme immunoassay. Scand J Clin Lab Invest 2003;63:407-15.
20. Bahado-Singh RO, Oz U, Kovanci E, et al. New triple screen test for Down syndrome: Combined urine analytes and serum AFP. Matern Fetal Med 1998;7:111-4.
21. Gueant JL, Gueant-Rodriguez RM, Anello G, et al. Genetic determinants of folate and vitamin. B12 metabolism. A common pathway in nevral tube defect and Down syndrome? Clin Chem Lab Med 2003;41:1473-7.
22. Sutton J, Cole LA. Sialic acid-deficient invasive trophoblast antigen (sd-İTA): A new urinary variant for gestational Down syndrome screening. Prenat Diagn 2004;24:194-7.
23. Cole L, Shahabi S, Oz U, Bahado-Singh, Mahoney MJ. Hyperglycosylated human chorionic gonadotropin (invasive trophoblast antigen) immunoassay: A new basis for gestational Down syndrome screening. Clin Chem 1999;45:2109-19.
24. Laigaard J, Sorensen T, Frohlich C, et al. ADAM12: A novel first trimester maternal serum marker for Down syndrome. Prenat Diagn 2003;23:1086-91.
25. Bianchi DW, Simpson JL, Jackson LG, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: Analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation study. Prenat Diagn 2002;22:609-15.
26. Pertl B, Bianchi DW. First trimester prenatal diagnosis: Fetal cells in the maternal circulation. Semin Perinatol 1999;23:393-402.
27. Bischoff FZ, Sinacori MK, Dang DD, et al. Cell-free fetal DNA and intact fetal cells in maternal blood circulation: Implications for first and second trimester non-invasive prenatal diagnosis. Human Reprod Update 2002;8:493-500.
28. Delisle MF, Wilson RD. First trimester prenatal diagnosis: Amniocentesis. Semin Perinatol 1999;23:414-23.
29. Rosendorff J, Jacobson MJ, Morris D, Ramsay M, Lane AB, Bernstein R. First trimester prenatal diagnosis by chorionic villus sampling. S Afr Med J 1989;75:15-7.
30. Verlinsky Y, Cieslak J, Ivakhnenko V, et al. Prevention of age-related aneuploidies by polar body testing of oocytes. J Assist Reprod Genet 1999;16:165-9.
31. Conn C, Cozzi J, Harper JC, Winston RM, Delhanty JD. Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet 1999;36:45-50.
32. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet 2004;363:1633-41.
33. Hulten MA, Dhanjal S, Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: Advantages and disadvantages of the molecular methods FISH and QF-PcR. Reproduction 2003;126:279-97.
34. Lim HJ, Kim YJ, Yang JH, et al. Amniotic fluid interphase FISH for detection of aneuploidy; experiences in 130 prenatal cases. J Korean Med Sci 2002;17:589-92.
35. Truong K, Gibaud A, Dupont JM, et al. Rapid prenatal diagnosis Down syndrome using quantitative fluorescence in situ hybridization on interphase nuclei. Prenat Diagn 2003;23:146-51.
36. Schmidt W, Jenderny J, Hecher K, et al. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 2000;6:855-60.
37. Blake DL, Dean NL, Knight C, Tan SL, Ao A. Direct comparison of detection systems used for the development of single cell genetic tests in preimplantation genetic diagnosis. J Assist Reprod Genet 2001;18:557-65.
38. Voullaire L, Wilton L, Slater H, Williamson R. Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn 1999;19:846-51.
39. Mansfield C, Hopfer S, Marteau TM. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and turner and klinefelter syndromes: A systematic literature review. Prenat Diagn 1999;19:808-12.