Hostname: page-component-745bb68f8f-b95js Total loading time: 0 Render date: 2025-01-15T14:39:28.779Z Has data issue: false hasContentIssue false
  • English
  • Français

PRENATAL SCREENING AND DIAGNOSIS OF FETAL CHROMOSOMAL ABNORMALITIES – DILEMMA BETWEEN BEST EVIDENCE-BASED MODEL AND PRACTICABILITY

Part of: Bespoke shallow archive Weizmann

Published online by Cambridge University Press:  01 May 2009

TK LAU  and
TY LEUNG
TK LAU*
Affiliation:
Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong.
TY LEUNG
Affiliation:
Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong.
*
Professor TK Lau, Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong.
Get access Rights & Permissions [Opens in a new window]

Extract

There is little doubt that congenital abnormalities cause significant stresses to the affected children, their parents and the whole family. Such stresses can be physical, psychological, social and financial. To society, the cost of looking after these affected individuals properly can be substantial. In the absence of prenatal screening, birth defects affect approximately 2–4% of newborns, although there are significant variations between populations.

Type
Research Article
Information
Fetal and Maternal Medicine Review , Volume 20 , Issue 2 , May 2009 , pp. 161 - 177
Copyright
Copyright © Cambridge University Press 2009

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

REFERENCES

1Final Activity Report to European Commission March 2004 to August 2007. EUROCAT central Registry, University of Ulster. http://www.eurocat.ulster.ac.uk/pdf/EUROCAT-Final-EC-Report.pdf.Google Scholar
2Biggio, JR Jr, Morris, TC, Owen, J, Stringer, JS. An outcomes analysis of five prenatal screening strategies for trisomy 21 in women younger than 35 years. Am J Obstet Gynecol 2004; 190: 721–29.CrossRefGoogle Scholar
3Lo, YM, Tsui, NB, Chiu, RW, Lau, TK, Leung, TN, Heung, MM, et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007; 13: 218–23.CrossRefGoogle ScholarPubMed
4Alfirevic, Z, Sundberg, K, Brigham, S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database of Systematic Reviews 2003, Issue 3.CrossRefGoogle Scholar
5Weisz, B, Rodeck, CH. An update on antenatal screening for Down's syndrome and specific implications for assisted reproduction pregnancies. Human Reprod Update 2006; 12: 513–18.CrossRefGoogle ScholarPubMed
6Wald, NJ, Rodeck, C, Hackshaw, AK, Walters, J, Chitty, L, Mackinson, AM. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 2003; 10: 56–104.Google ScholarPubMed
7Malone, FD, Canick, JA, Ball, RH, Nyberg, DA, Comstock, CH, Bukowski, R et al. First- and second-trimester evaluation of risk (FASTER) research consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005; 353: 2001–2011.CrossRefGoogle ScholarPubMed
8Wapner, R, Thom, E, Simpson, JL, Pergament, E, Silver, R, Filkins, K et al. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003; 349: 1405–413.CrossRefGoogle ScholarPubMed
9Wald, NJ, Cuckle, HS, Densem, JW, Nanchahal, K, Royston, P, Chard, T et al. Maternal serum screening for Down's syndrome in early pregnancy. Br Med J 1988; 297: 883–87.CrossRefGoogle ScholarPubMed
10Haddow, JE, Palomaki, GE, Knight, GJ, Williams, J, Pulkkinen, A, Canick, JA et al. Prenatal screening for Down's syndrome with use of maternal serum markers. N Engl J Med 1992; 327: 588–93.CrossRefGoogle ScholarPubMed
11Benn, PA, Collins, R. Evaluation of effect of analytical imprecision in maternal serum screening for Down's syndrome. Ann Clin Biochem 2001; 38: 28–36.CrossRefGoogle ScholarPubMed
12Wøjdemann, KR, Larsen, SO, Rode, L, Shalmi, A, Sundberg, K, Christiansen, M et al. First trimester Down syndrome screening: distribution of markers and comparison of assays for quantification of pregnancy-associated plasma protein-A. Scand J Clin Lab Invest 2006; 66: 101–111.CrossRefGoogle ScholarPubMed
13Szabo, J, Gellen, J. Nuchal fluid accumulation in trisomy 21 detected by vaginosonography in first trimester. Lancet 1990; 336: 1133.CrossRefGoogle ScholarPubMed
14Nicolaides, KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004; 191: 45–67.CrossRefGoogle ScholarPubMed
15Bewley, S, Roberts, LJ, Mackinson, AM, Rodeck, CH. First trimester fetal nuchal translucency: problems with screening the general population. 2. Br J Obstet Gynaecol 1995; 102: 386–88.CrossRefGoogle ScholarPubMed
16Kornman, LH, Morssink, LP, Beekhuis, JR, De Wolf, BT, Heringa, MP, Mantingh, A et al. Translucency cannot be used as a screening test for chromosomal abnormalities in the first trimester of pregnancy in a routine ultrasound practice. Prenat Diagn 1996; 16: 797–805.3.0.CO;2-M>CrossRefGoogle Scholar
17Monni, G, Zoppi, MA, Ibba, RM, Floris, M. Fetal nuchal translucency test for Down's syndrome. Lancet 1997; 350: 1631.CrossRefGoogle ScholarPubMed
18Timor-Tritsch, IE, Fuchs, KM, Monteagudo, A, D'alton, ME. Performing a fetal anatomy scan at the time of first-trimester screening. Obstet Gynecol 2009; 113: 402–407.CrossRefGoogle ScholarPubMed
19Atzei, A, Gajewska, K, Huggon, IC, Allan, L, Nicolaides, KH. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol 2005; 26: 154–57.CrossRefGoogle ScholarPubMed
20Hadlow, NC, Hewitt, BG, Dickinson, JE, Jacoby, P, Bower, C. Community-based screening for Down's Syndrome in the first trimester using ultrasound and maternal serum biochemistry. BJOG 2005; 112: 1561–564.CrossRefGoogle ScholarPubMed
21Wøjdemann, KR, Shalmi, AC, Christiansen, M, Larsen, SO, Sundberg, K, Brocks, V, Bang, J, Nørgaard-Pedersen, B, Tabor, A. Improved first-trimester Down syndrome screening performance by lowering the false-positive rate: a prospective study of 9941 low-risk women. Ultrasound Obstet Gynecol 2005; 25: 227–33.CrossRefGoogle Scholar
22Leung, TY, Chan, LW, Law, LW, Sahota, DS, Fung, TY, Leung, TN, Lau, TK. First trimester combined screening for Trisomy 21 in Hong Kong: outcome of the first 10,000 cases. J Matern Fetal Neonatal Med 2008; 13: 1–5.Google Scholar
23Stenhouse, EJ, Crossley, JA, Aitken, DA, Brogan, K, Cameron, AD, Connor, JM. First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice. Prenat Diagn 2004; 24: 774–80.CrossRefGoogle ScholarPubMed
24Avgidou, K, Papageorghiou, A, Bindra, R, Spencer, K, Nicolaides, KH. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies. Am J Obstet Gynecol 2005; 192: 1761–767.CrossRefGoogle ScholarPubMed
25Cicero, S, Spencer, K, Avgidou, K, Faiola, S, Nicolaides, KH. Maternal serum biochemistry at 11–13(+6) weeks in relation to the presence or absence of the fetal nasal bone on ultrasonography in chromosomally abnormal fetuses: an updated analysis of integrated ultrasound and biochemical screening. Prenat Diagn 2005; 25: 977–83.CrossRefGoogle ScholarPubMed
26Cicero, S, Longo, D, Rembouskos, G, Sacchini, C, Nicolaides, KH. Absent nasal bone at 11–14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol 2003; 22: 31–35.CrossRefGoogle ScholarPubMed
27Leung, TY, Sahota, DS, Chan, LW, Law, LW, Fung, TY, Lau, TK. Fetal nasal bone status in Chinese women undergoing first trimester screening for Trisomy 21. Am J Obstet Gynecol 2008; 199: 521. e1–5.CrossRefGoogle ScholarPubMed
28Cicero, S, Avgidou, K, Rembouskos, G, Kagan, KO, Nicolaides, KH. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol 2006; 195: 1009–1014CrossRefGoogle ScholarPubMed
29Weisz, B, Pandya, P, Chitty, L, Jones, P, Huttly, W, Rodeck, C. Practical issues drawn from the implementation of the integrated test for Down syndrome screening into routine clinical practice. BJOG 2007; 114: 493–97.CrossRefGoogle ScholarPubMed
30Cuckle, H, Benn, P, Wright, D. Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters. Semin Perinatol 2005; 29: 252–57.CrossRefGoogle ScholarPubMed
31Alfirevic, Z, Mujezinovic, F, Sundberg, K. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database of Systematic Reviews 2003, Issue 3.CrossRefGoogle Scholar
32Tabor, A, Philip, J, Madsen, M, Bang, J, Obel, EB, Nørgaard-Pedersen, B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986; 1: 1287–293.CrossRefGoogle ScholarPubMed
33Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. The Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group. Lancet 1998; 351: 242–47.Google Scholar
34Nicolini, U, Lalatta, F, Natacci, F, Curcio, C, Bui, TH, Nicolini, U et al. The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration. Hum Reprod Update 2004; 10: 541–48.CrossRefGoogle ScholarPubMed
35Ogilvie, CM, Lashwood, A, Chitty, L, Waters, JJ, Scriven, PN, Flinter, F. The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing. BJOG 2005; 112: 1369–375.CrossRefGoogle ScholarPubMed
36Caine, A, Maltby, AE, Parkin, CA, Waters, JJ, Crolla, JA. UK Association of Clinical Cytogeneticists (ACC). 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 2005; 366: 123–28.CrossRefGoogle ScholarPubMed
37Van Den Veyver, IB, Patel, A, Shaw, CA, Pursley, AN, Kang, SH, Simovich, MJ et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009; 29: 29–39.CrossRefGoogle ScholarPubMed
38Leung, TN, Ching Chau, MM, Chang, JJ, Leung, TY, Fung, TY, Lau, TK. Attitudes towards termination of pregnancy among Hong Kong Chinese women attending prenatal diagnosis counselling clinic. Prenat Diagn 2004; 24: 546–51.CrossRefGoogle ScholarPubMed
39Chan, YM, Leung, TN, Leung, TY, Fung, TY, Chan, LW, Lau, TK. The utility assessment of Chinese pregnant women towards the birth of a baby with Down syndrome compared to a procedure-related miscarriage. Prenat Diagn 2006; 26: 819–24.CrossRefGoogle ScholarPubMed