The importance of rapid aneuploidy screening and prenatal diagnosis in the detection of numerical chromosomal abnormalities

SpringerPlus

Volumn 2, Issue 1, 2013, Pages 1-8

  Elsayed, Ghada M ^a,d   El Assiouty, Lobna ^b   El Sobky, Ezzat S ^c  

^a CAIRO UNIVERSITY   (Egypt)

^b National screening program for Women and Child Health   (United Arab Emirates)

^c AIN SHAMS UNIVERSITY   (Egypt)

^d Medical Genetics Center   (Egypt)

Author keywords

Amniocentesis; Chromosomal anomalies; Down syndrome; FISH; Prenatal diagnosis

Indexed keywords

EID: 84887277209     PISSN: None     EISSN: 21931801     Source Type: Journal    
DOI: 10.1186/2193-1801-2-490     Document Type: Article

References (47)

1. Abdel-Tawab N, Loza S, Zaki A (2008) Helping Egyptian women achieve optimal birth spacing intervals through fostering linkage between family planning and maternal child health services, population council. USAID/Cairo, pp 1-45.
2. Agnieszka S, Slezak R, Pesz K, Gil J (2007) Prenatal diagnosis-principles of diagnostic procedures and genetic counseling. Folia Histochemica 45:11-16.
3. Ahmed S, Bryant LD, Ahmed M, Jafri H, Raashid Y (2013) Experiences of parents with a child with down syndrome in Pakistan and their views on termination of pregnancy. J Community Genet 4(1):107-114.
4. Anderson CL, Brown CE (2009) Fetal chromosomal abnormalities: antenatal screening and diagnosis. Am Fam Physician 15 79(2):117-123.
5. Atef SH, Hafez SS, Mahmoud NH, Helmy SM (2011) Prenatal diagnosis of fetal aneuploidies using QF-PCR: the Egyptian study. J Prenat Med 5(4):83-89.
6. Boyd PA, Devigan C, Khoshnood B, Loane M, Garne E, Dolk H, EUROCAT Working Group (2008) Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and down's syndrome. BJOG 115(6):689-696, doi:10.1111/j.1471-0528.2008.01700.x.
7. Bui TH (2007) Prenatal cytogenetic diagnosis: Gone FISHing, BAC soon! Ultrasound Obstet Gynecol 30:247-251.
8. Caine A, Maltby AE, Parkin CA, Waters JJ, Crolla JA (2005) Prenatal detection of down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet 366:123-128.
9. Chao DN (2005) Family planning in Egypt is a sound financial investment, in a technical report of a prospective cost-benefit analysis of Egypt family planning program, 2000-2030. The Futures Group International, USAID/Washington, D. C, pp 1-48.
10. Chen CP, Chern SR, Wang W (2001) Fetal DNA analyzed in plasma from a mother's three consecutive pregnancies to detect paternally inherited aneuploidy. Clinical chemistry 47:937-939.
11. Choi SJ, Kim WS, Kim JU, Lee ES, Cho EH, Kim SH (2005) Cytogenetic and clinical analysis of mid-trimester amniocentesis. Korean J Obstet Gynecol 48:1420-1430.
12. Cobb L, Beasely R, Harbick D, McManus K, Wright M (1993) Final Evaluation of the Clinical Services Improvement SubProject of the Egyptian Family Planning Association under the Population/Family Planning II Project. USAID/Arlington, pp 1-110.
13. El-Gilany A, Yahia S, Shoker M, El-Dahtory F (2011) Cytogenetic and comorbidity profile of down syndrome in Mansoura university children's hospital, Egypt. Indian J of Human Genetics 17:157-163.
14. El-Sobky (2007) Cytogenetics of fetal anomalies detected by ultrasonography. Egypt J Med Hum Genet 8:87-96.
15. El-Sobky E, Elsayed S (2004) Down syndrome in Egypt. Egypt J Med Hum Genet 5:67-78.
16. Finlay JE, Ozaltin E, Canning D (2011) The assiociation of maternal age with infant mortality, child anthripometric failure, diarrhea and anemia for first births: evidence from 55 low and middle-income countries. BMJ Open 1(2):e000226, doi:10.1136/bmjopen-2011-000226.
17. Gekas J, van den Berg DG, Durand A, Vallée M, Wildschut HI, Bujold E, Forest JC, Rousseau F, Reinharz (2011) Rapid testing versus karyotyping in down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities. J Hum Genet 19(1):3-9.
18. Ghai A (2001) Marginalization and disability: experiences from the third world. In: Priestley M (ed) Disability and the life course: a global perspective. Cambridge University Press, Cambridge, pp 16-37.
19. Glasson EJ, Sullivan SG, Hussain R, Petterson BA, Montgomery PD, Bittles AH (2002) The changing survival profile of people with down's syndrome: implications for genetic counseling. Clin Genet 62:390-393.
20. Grimshaw GM, Szczepura A, Hulten M, macDonald F, Nevin NC, Sutton F, Dhanjal S (2007) Evaluation of molecular tests for prenatal diagnosis of chromosome anomalies. Health technology Assesment 7:1-56.
21. Han SH, An JW, Jeong GY, Yoon HR, Lee A, Yang YH, Lee KP, Lee KR (2008) Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. Korean J Lab Med 28(5):378-385.
22. Helmy S, Essawi M, Bassiouni R, Gaber K (2009) Rapid PNCD for common aneuploidies using QF-PCR in Egyptian women. Res J Medicine& med 4(2):446-451.
23. Hulten M, Dhanjal S, Pertl B (2003) Rapid and simple prenatal diagnosis of common chromosome disorders: advantaes and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 126:279-297.
24. Jang SK, Choi OH (2007) Cytogenetic and clinical analysis in 3,537 cases of midtrimester amniocentesis. Korean J Perinatal 18:29-36.
25. Jobanputra V, Roy KK, Kucheria K (2002) Prenatal detection of aneuploidies using fluorescence in situ hybridization: a preliminary experience in an Indian set up. J Biosci 27(2):155-163.
26. Lamb NE, Yu K, Shaffer J, Feingold E, Sherman SL (2005) Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Gent 76:91-99.
27. Leung WC, Lao TT (2005) Rapid aneuploidy testing, traditional karyotyping or both? Lancet 366:97-98.
28. Leung WC, Lau ET, Lao TT, Tang MH (2003) Can amnio-polymerase chain reaction alone replace conventional cytogenetic study for women with positive biochemical screening for fetal down syndrome? Obstet Gynecol 101:856-861.
29. Leung WC, Lau ET, Lau WL, Tang R, Wong SF, To WK, Ng LK, Lao TT, Tang MH (2008) Working group on prenatal diagnosis and counseling, hospital authority: rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide? Hong Kong Med J 14(1):6-13.
30. Liehr T, Ziegler M (2005) Rapid prenatal diagnostics in the interphase nucleus: procedure and cut-off rates. J Histochem Cytochem 53(3):289-291.
31. Lim HJ, Kim YJ, Yang JH (2002) Amniotic fluid interphase fluorescence in situ hybridization (FISH) for detection of aneuploidy; experiences in 130 Prenatal Cases. J Korean Med Sci 17:589-592.
32. Lim AS, Lim TH, Hess MM, Kee SK, Lau YY, Gilbert R, Hempel TE, Anderson KJ, Zaleski DH, Tien SL, Chia P, Subramaniam R, Tan HK, Tan AS, Sanger WG (2010) Rapid aneuploidy screening with fluorescence in-situ hybridization: is it a sufficiently robust stand-alone test for prenatal diagnosis? Hong Kong Med J 16(6):427-433.
33. Morris JK, Alberman E (2009) Trends in down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the national down syndrome cytogenetic register. BMJ 26:339-b3794.
34. Neagos D, Cretu R, Sfetea RC, Bohiltea LC (2011) The importance of screening and prenatal diagnosis in the identification of the numerical chromosomal abnormalities. Maedica (Buchar) 6(3):179-184.
35. Nicolaides KH, Heath V, Cicero S (2002) Increased fetal nuchal translucency at 11-14 weeks. Prenat Diagn 22(4):308-315.
36. Pergament E, Chen P, Fiddler M (2000) The clinical application of interphase FISH in prenatal diagnosis. Prenat Diagn 20:215-220.
37. Salihu HM (1997) Genetic counseling among Muslim; questions remain unanswered. Lancet 350(9083):1035-1036.
38. Scott CJ, Futter M, Wonkam A (2013) Prenatal diagnosis and termination of pregnancy: perspectives of South African parents of children with Down syndrome. J Community Genet 4(1):87-97.
39. Settin A, Abu-Saif I, El-Baz R, Dowaidar M, Abu-Al KR, Shabans S (2007) Diagnosis of sex chromosome disorders and prenatal diagnosis of down syndrome using interphase fluorescent in-siu hybridization technique. International Journal of Health sciences, Qassim University 2:203-209.
40. Shalaby H (2011) A study of new potential risk factors for down syndrome in upper Egypt. Egypt J Med Hum genet 12:15-19.
41. Shawky R, Zaky E, El-sobky E, Ramy A, Omer S (2009) Prenatal diagnosis of aneuploidy among a sample of high risk pregnancies. Egypt J Med Hum Gene 10:27-37.
42. Snijders RJM, Noble P, Sebire N, Souka A, Nicolaides KH (1998) UK multicenter 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.
43. Tseng JJ, Chou MM, Lo FC, Lai HY, Chen MH, Ho ES (2006) Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995-2004. Taiwan J Obstet Gynecol 45:39-41.
44. Wald NJ, Watt HC, Hackshaw AK (1999) Integrated screening for down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 341(7):461-467.
45. Warburton D, Dallaire L, Thangavelu M, Ross L, Levin B, Kline J (2004) Trisomy recurrence: a reconsideration based on North American data. Am J Hum Genet 75:95-100.
46. Wellesley D, Boyle T, Barber J, Howe DT (2002) Retrospective audit of different antenatal screening policies for down's syndrome in eight district general hospitals in one health region. BMJ 325(7354):15.
47. Yang YH, Ju KS, Kim SB, Cho YH, Lee JH, Lee SH, Choi OH, Chun JH, Kim JI, Kim HJ, Sohn YS (1999) The Korean collaborative study on 11,000 prenatal genetic amniocentesis. Yonsei Med J 40:460-466.