First and Second Trimester Antenatal Screening for Down's Syndrome: The Results of the Serum,Urine and Ultrasound Screening Study (SURUSS)

Wald NJ Cuckle HS Densem JW Maternal serum screening for Down's syndrome in early pregnancy. BMJ, 1988;297:883–7.

Wald NJ Kennard A Hackshaw A McGuire A . Antenatal screening for Down's syndrome. J Med Screen, 1997;4:181–247.

Wald NJ Watt HC Hackshaw AK. Integrated screening for Down's syndrome based on tests performed during the first and second trimesters. N Engl J Med 1999; 341:461–7.

Cuckle HS Canick JA Kellner LH On behalf of the Collaborative Study Group. Collaborative study of maternal urine β-core hCG screening for Down syndrome. Prenat Diagn 1999; 19:911–17.

Cole LA Shahobi S Oz UA Hyperglycosylated hCG (invasive trophoblasts antigen) immunoassay: A new basis for gestational Down syndrome screening. Clin Chem, 1999;45:2109–19.

Wald NJ Cuckle HS Densem JW Maternal serum screening for Down's syndrome: The effect of routine ultrasound scan determination of gestational age and adjustment for maternal weight. Brit J Obstet Gynaecol, 1992;99:144–9.

Morris JK Mutton DE Alberman E . Revised estimates of maternal age specific live birth prevalence of Down's syndrome in the absence of antenatal screening and selective termination. J Med Screen, 2002;9:2–6.

Wald N Hackshaw A . Tests using multiple markers. In: Wald NJ Leek I , editors. Antenatal and neonatal screening, 2nd ed., Oxford: Oxford University Press; 2000. p. 23–57.

Office for National Statistics. Birth Statistics. England and Wales; 1996, 1997, 1998 (FM1, Nos 25–27]. London: The Stationery Office; 1998.

Royston P Thompson SG. Model-based screening by risk with application to Down's syndrome. Stat Med 1992; 11:257–68.

Morris JK Wald NJ Watt HC. Fetal loss in Down syndrome pregnancies. Prenat Diagn 1999; 19:142–5.

Gosden C Tabor A Leck IL Amniocentesis and chorionic villus sampling. In: Wald NJ Leck I , editors. Antenatal and neonatal screening, 2nd ed., Oxford: Oxford University Press; 2000, p 470–516.

Gilbert RE Augood C Gupta R Screening for Down's syndrome: Effects, safety, and cost effectiveness of first and second trimester strategies. BMJ, 2001;323:423–5.

Nicolaides KH Snijders KM Cuckle HS. Correct estimation of parameters for ultrasound translucency screening. Prenat Diagn 1998; 18:519–21.

Hyett JA Sebire NJ Intrauterine lethality of trisomy 21 fetuses with increased nuchal translucency thickness. Ultrasound Obstet Gynecol, 1996;7:101–3.

Grudzinskas JG. Endocrinological and metabolic assessment of early pregnancy. In: Chamberlain G , editor. Turnbull's obstetrics., 2nd ed., Edinburgh: Churchill Livingstone; 1995, p 185–93.

Macri J Kasturi RV Krantz BS Maternal serum Down syndrome screening: Free β-protein is a more effective marker than human chorionic gonadotropin. Am J Obstet Gynecol, 1990;163:1248–53.

Cuckle HS Holding S Jones R Combining inhibin A with existing second-trimester markers in maternal serum screening for Down's syndrome. Prenat Diagn, 1996, 16:1095–100.

Aitken DA Wallace EM Crossley JA Dimeric inhibin-A as a marker for Down's syndrome in early pregnancy. N Engl J Med, 1996;334:1231–6.

Forest JC Masse J Rousseau F Screening for Down's syndrome during the first and second trimesters: Impact of risk estimation parameters. Clin Biochem, 1995;28:443–9.

Spencer K . Evaluation of an assay of the free b-subunit of choriogonadotropin and its potential value in screening for Down's syndrome. Clin Chem, 1991;37:809–14.

Knight GJ Palomaki GE Neveux LM hCG and the free β-subunit as screening tests for Down syndrome. Prenat Diagn, 1998;18:235–45.

Wald NJ Densem JW Smith D Klee GG. Four-marker serum screeeing for Down's syndrome. Prenat Diagn, 1994;14:707–16.

Spencer K Macri JN. Early detection of Down's syndrome using free beta human chorionic gonadotrophin. Ann Clin Biochem, 1992;29:349–50.

Crossley JA Aitken DA Connor JM. Prenatal screening for chromosome abnormalities using maternal serum chorionic gonadotrophin, alpha-fetoprotein, and age. Prenat Diagn, 1991;11:83–101.

Pedersen B Norgaard Alfthan H Arends J . A new simple and rapid dual assay for AFP and free β-hCG in screening for Down syndrome. Clin Genet, 1994;45:1–4.

Ryall RG Staples AJ Robertson EF Pollard AC. Improved performance in a prenatal screening programme for Down's syndrome incorporating serum-free-hCG subunit analyses. Prenat Diagn, 1992;12:251–61.

Macri JN Anderson RW Krantz DA Prenatal maternal dried blood screening with AFP and free β-hCG for open neural tube defects and Down's syndrome. Am J Obstet Gynecol, 1996, 174:566–72.

Wenstrom KD Owen J Chu DC Boots L . Free β-hCG subunit versus intact hCG in Down's syndrome screening. Obstet Gynecol, 1997;90:370–4.

Spencer K Coombes EJ Mallard AS Milford-Ward A . Free beta human choriogonadotropin in Down's syndrome screening: A multicentre study of its role compared with other biochemical markers. Ann Clin Biochem, 1992;29:506–18.

Stone S Henley R Reynolds T John R . A comparison of total and free 3-subunit assays in Down syndrome screening. Prenat Diagn, 1993, 13:535–7.

Spencer K . Second trimester prenatal screening for Down's syndrome using AFP and free β-hCG: A 7 year review. Br J Obstet Gynecol, 1999, 106:1287–93.

Macri JN Spencer K Anderson R . Dual analyte immunoassay — a new approach to neural tube defect and Down syndrome screening. Ann Clin Biochem, 1992;29:390–6.

Hsu JJ Hsieh TT Soong YK Spencer K . Comparison of Down's syndrome screening strategies in Asians. Combining serum free β-hCG and AFP with maternal age. Prenat Diagn, 1997;17:707–16.

Chao AS Chung CL Wu CD Second trimester maternal serum screening using AFP, free β-hCG and maternal age. Result of chromosomal abnormalities detected in screen positive for Down syndrome in an Asian population. Acta Obstet Gynecol Scand, 1999;78:393–7.

Macri JN Anderson RW Kasturi RV Enhanced Down syndrome detection with free beta (hCG). Am J Hum Genet, 1992;51::A418.

Spencer K Souter V Tul N A screening programme for trisomy 21 at 10–14 weeks using fetal NT, maternal serum free β-hCG and PAPP-A. Ultrasound Obstet Gynecol, 1999;13:231–7.

Wald NJ Hackshaw AK George LM. Assay precision of serum (a fetoprotein in antenatal screening for neural tube defects and Down's syndrome. J Med Screen, 2000;7:74–7.

Wald NJ George L Smith D (On behalf of the International Prenatal Screening Research Group). Serum screening for Down's syndrome between 8 and 14 weeks of pregnancy. Br J Obstet Gynaecol, 1996, 103:407–12.

Cicero S Curcio P Papageorghiou A Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: An observational study. Lancet, 2001;358:1665–7.

De Biasio P Venturini PL. Absence of nasal bone and detection of trisomy 21. Lancet, 2002;359:1344.

Ward BE Gersen SL Carelli MP Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridisation: Clinical experience with 4500 specimens. Am J Hum Genet, 1993;52:854–65.

Levett U Liddle S Meredith R . A large scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol, 2001, 17:115–18.

Mann K Fox SP Abbs SJ Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis, Lancet 2001;358:1057–61.

Lawson HW Frye A Altrash HK Obstetrics: Abortion mortality. United States, 1972 through 1987. Am J Obstet Gynecol, 1994;171:1365–72.

Chitty L Statham H Sololou W Green J . Grief after termination for fetal abnormality — is there a gestational age effect? Ultrasound Obstet Gynecol, 1998, 12 Suppl 1:3.

Bischoff FZ Lewis D Simpson JL Isolating fetal cells from maternal blood: Strategies to increase sensitivity for fetal aneuploidy detection. Am J Hum Genet, 1999;65 Suppl:A943.

Bianchi DW Simpson JL Jackson LG Fetal gender and aneuploidy detection using fetal cells in maternal blood: Analysis of NIFTY I data. Prenat Diagn, 2002;22:609–15.

Holzgreve W . Prenatal diagnosis using fetal cells and free fetal DNA in maternal blood. Clin Perinatol, 2001;28:353–65.

Wald N Huttly W Hackshaw A . Antenatal screening for Down's syndrome with the quadruple test: 5 year results from a screening programme. Lancet, 2003;361:835–6.