Strategies for prenatal diagnosis today

Hippokratia

Volumn 10, Issue 1, 2006, Pages 22-27

  Daniilidis, A ^a,c   Klearhou, N ^a   Mauromichali, M ^b  

^a Hippokration University Hospital   (Greece)

^b Gennimatas General Hospital   (Greece)

^c NONE   (Greece)

Author keywords

Down's syndrome; Nuchal translucency; Prenatal diagnosis

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN BETA SUBUNIT; ESTRIOL; INHIBIN A;

AMNIOCENTESIS; CHORION VILLUS SAMPLING; CHROMOSOME ABERRATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; ETHNOLOGY; FAMILY HISTORY; FETUS CELL; FETUS DISEASE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; HANDICAPPED CHILD; HIGH RISK PATIENT; HUMAN; MACHINE; MATERNAL AGE; NON INVASIVE MEASUREMENT; NUCHAL TRANSLUCENCY MEASUREMENT; OBSTETRICS; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; REVIEW; SCREENING TEST; SECOND TRIMESTER PREGNANCY; SKILL; SPONTANEOUS ABORTION;

EID: 33646255097     PISSN: 11084189     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (34)

1. Kaback MM, Lim-Steele J, Dabholkar D, Brown D Levy N, Zeiger K. Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. JAMA 1993; 270:2307-2315 (Abstract)
2. Gauthier CG. The impact of recombinant DNA technology on genetic screening. Public Aff Q 1989; 3:25
3. Jennifer A. Bubb, Anne L. Matthews. What's new in prenatal screening and diagnosis? Primary Care; Clin in Off Pract 2004
4. Tabor A, Philip J,Madsen M, Bang J, Obel EB, Norgaard-Pedersen B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986; 1:1287-1293
5. Klinger K, Landes G, Shook D, et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 1992; 51:55-65
6. Tepperberg J, Pettenati MJ, Rao PN, et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-centre retrospective study and review of the literature. Pren Diagn 2001; 21:293-301
7. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Europ J of Hum Gen 2004; 12:907-915
8. Mansfield ES. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 1993; 2:43-50
9. Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M. Rapid molecular method for prenatal detection of Down's syndrome. Lancet 1994; 343:1197-1198
10. Bennet RL. Getting to the roots: recording the family tree. The practical guide to the genetic family history New York, Wiley-Liss, Inc; 1999: 38-67
11. Cao A, Rosatelli MC, Monni G, Galanello R. Screening for thalassemia: a model for success. Obstet Gynecol Clin N Am 2002; 29:305-328
12. Lemna W K, Feidman G L, Kerem B et al. Mutation analysis for heterozygote detection and prenatal diagnosis of cystic fibrosis. N Engl J Med 1990; 322:291-296
13. American College of Obstetricians and Gynaecologists and the American College of Medical Genetics. Preconception and prenatal carrier screening for cystic fibrosis: clinical and laboratory guidelines. Washington, DC: American College of Obstetricians and Gynaecologists; 2001:1-31
14. Benn PA. Advances in prenatal screening for Down syndrome: II .First trimester testing intergraded testing, and future directions. Clin Chim Acta 2002; 324:1-11
15. Cuckle HS, van Lith JM. Appropriate biochemical parameters in first-trimester screening for Down syndrome. Prenat Diagn 1999;19:505-512
16. Nikolaides KH, Azar G, Byrne D, Mansur C, Marks K. Foetal nuchal translucency: ultrasound screening for chromosome defects in first trimester of pregnancy. Br Med J 1992; 304:867-869
17. Snijders RJM, Noble, Sebire N, Souka A, Nikolaides KH. UK multicentre project of assessment of risk of trisomy 21 by maternal age and foetal nuchal translucency thickness at 10-14 weeks of gestation. Lancet 1998; 352:343-346
18. Pandya PP, Goldberg H, Walton B, et al. The implementation of first-trimester scanning at 10-13 weeks gestation and the measurement of foetal nuchal translucency thickness in two maternity wards. Ultras Obstet Gynecol 1995; 5:20-25
19. Thilaganathan B, Sairam S, Michailidis G, Wathen NC. First trimester nuchal translucency: effective routine screening for Down's syndrome. Br J Radiol 1999; 72:946-948
20. Orlandi F, Damiani G, Hallahan W, Krantz DA, Macri JN. First-trimester screening for foetal aneuploidy: biochemistry and nuchal translucency. Ultras Obstet Gynecol 1997; 10:381-386
21. Bindra R, Heath V, Liao A, Spencer K, Nicolaides KH. One-stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: a prospective study of 15030 pregnancies. Ultras Obstet Gynecol 2002; 20:219-225
22. Spencer K, Spencer CE, Power M, Dawson C, Nikolaides KH. 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. Br J Obstet Gynecol 2003; 110:281-286
23. Wapner R, Thorn E, Simpson J, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003; 349:1405-1411
24. Nyberg DA, Souter VL, EL-Bastawissi A, Young S, Luthhardt F, Luthy D. Isolated sonographic markers for detection of foetal Down syndrome in the second trimester of pregnancy. J Ultras Med 2001; 20:1053-1063
25. Bromley B, Lieberman E, Shipp TD, Benacerraf B. The genetic sonogram: a method of risk assessment for Down syndrome in the second trimester. J Ultras Med 2002; 21:1087-1896
26. Nikolaides KH. Screening for chromosomal defects. Ultras Obstet Gynecol 2003; 21:313-321
27. Saari-Kemppainen A, Karjalainen O, Ylostato P, Heinonen O P. Ultrasound screening and perinatal mortality. Controlled trial of systemic one stage screening in. Lancet 1990; 336:387-391
28. Wald NJ, Densem JW, George L, Muttukrishna S, Knight PG. Prenatal screening for Down's syndrome using inhibin A as a serum marker. Prenat Diagn 1996; 16:143-152
29. Palomaki GE, Haddow. Maternal serum AFP, maternal age, and Doen syndrome risk. Am J Obstet Gynecol 1987; 156:460-463
30. Canick JA, Palomaki GE, Osthanondh R. Prenatal screening for trisomy 18 in the second trimester. Prenat Diagn 1990; 10:546-548
31. Lambert-Messerlian GM, Saller Jr DN, Tumber MB, French CA, Peterson CJ, Canick JA. Second trimester maternal serum inhibin A levels in fetal trisomy 18 and Turner syndrome with and without hydrops. Prenat Diagn 1998; 18:1061-1067
32. Sherman E, Simpson JL, Bombard AT. Amniocentesis and foetal blood sampling. In: Milunsky A, editors . Genetic disorders and the foetus Baltimore: Johns Hopk Univers Press; 1998; p. 53-82
33. Brambati B, Simoni G, Travi M, et al. Genetic diagnosis by chorionic villous sampling before 8 gestational weeks: efficiency, reliability and risks in 317 completed pregnancies. Prenat Diagn 1992; 12:789-799
34. Nussbaum RL, McInnes RR, Willard HF. Prenatal diagnosis. In: Nussbaum RL, McInnes RR, Willard HF editors. Thompson and Thompson genetics in medicine Philadelphia: WB Saunders; 2001; p. 359-374