Evaluation of Down Syndrome Screening Strategies

Seminars in Perinatology - Tập 29 - Trang 219-224 - 2005
Katharine D. Wenstrom1
1Departments of Obstetrics and Gynecology and Human Genetics, The University of Alabama at Birmingham, Birmingham, AL

Tài liệu tham khảo

Haddow, 1992, Prenatal screening for Down’ s syndrome with use of maternal serum markers, N Engl J Med, 327, 488, 10.1056/NEJM199208273270902 Haddow, 1994, Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening, N Engl J Med, 330, 1114, 10.1056/NEJM199404213301603 Kuliev, 1996, Report of World Organization/Euro meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel-Aviv, Israel, May 21, 1994, Am J Obstet Gynecol, 174, 807, 10.1016/S0002-9378(96)70304-6 Brambati, 1993, Low maternal serum levels of pregnancy associated plasma protein (PAPP-A) in the first trimester in association with abnormal fetal karyotype, Br J Obstet Gynaecol, 100, 324, 10.1111/j.1471-0528.1993.tb12973.x Wald, 1996, Serum screening for Down syndrome between 8 and 14 weeks of pregnancy, Br J Obstet Gynaecol, 103, 407, 10.1111/j.1471-0528.1996.tb09765.x Nicolaides, 1992, Fetal nuchal translucency, Br Med J, 304, 867, 10.1136/bmj.304.6831.867 Snijders, 1998, UK multicentre projection on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation, Lancet, 351, 343, 10.1016/S0140-6736(97)11280-6 Krantz, 1996, First-trimester Down syndrome screening, Am J Obstet Gynecol, 174, 612, 10.1016/S0002-9378(96)70436-2 Wald, 1997, Combining ultrasound and biochemistry in first-trimester screening for Down’s syndrome, Prenat Diagn, 17, 821, 10.1002/(SICI)1097-0223(199709)17:9<821::AID-PD154>3.0.CO;2-5 Cicero, 2001, Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation, Lancet, 358, 1665, 10.1016/S0140-6736(01)06709-5 Malone, 2003, First-trimester nasal bone evaluation for aneuploidy in an unselected general population, Am J Obstet Gynecol, 189, S79, 10.1016/j.ajog.2003.10.056 Snijders, 1996, First-trimester ultrasound screening for chromosomal defects, Ultrasound Obstet Gynecol, 7, 216, 10.1046/j.1469-0705.1996.07030216.x Maymon, 2004, Comparison of pregnancy outcome of euploid fetuses with increased nuchal translucency (NT) expressed in NT MoM or delta-NT, Ultrasound Obstet Gynecol, 23, 477, 10.1002/uog.1060 Souka, 2001, Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester, Ultrasound Obstet Gynecol, 18, 9, 10.1046/j.1469-0705.2001.00454.x Wald, 1997, Antenatal screening for Down’s syndrome, J Med Screen, 4, 181, 10.1177/096914139700400402 D’Alton, 1997, Defining the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis of aneuploidies, Am J Obstet Gynecol, 176, 769, 10.1016/S0002-9378(97)70600-8 Lawson, 1994, Abortion mortality, United States, 1972 through 1987, Am J Obstet Gynecol, 171, 1365, 10.1016/0002-9378(94)90162-7 Snijders, 1998, UK multicentre 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, 10.1016/S0140-6736(97)11280-6 Mol, 1999, Effect of study design on the association between nuchal translucency measurement and Down syndrome, Obstet Gynecol, 94, 10.1016/S0029-7844(99)00496-2 Wald, 1999, Integrated screening for Down’s syndrome based on tests performed during the first and second trimesters, N Engl J Med, 341, 461, 10.1056/NEJM199908123410701 Copel, 1999, Prenatal screening for Down’s syndrome, N Engl J Med, 341, 521, 10.1056/NEJM199908123410709 Maymon, 2001, Sequential first and second trimester screening tests, Prenat Diagn, 21, 1175, 10.1002/pd.198 Hackshaw, 2001, Inaccurate estimation of risk in second trimester serum screening for Down syndrome among women who have already had first trimester screening, Prenat Diagn, 21, 741, 10.1002/pd.131 Platt, 2004, Sequential pathways of testing after first trimester screening for trisomy 21, Obstet Gynecol, 104, 661, 10.1097/01.AOG.0000139832.79658.b9 Herman, 2002, Comparison between disclosure and non-disclosure approaches for trisomy 21 screening tests, Hum Reprod, 17, 1358, 10.1093/humrep/17.5.1358 Wright, 2004, Contingent screening for Down syndrome is an efficient alternative to non- disclosure sequential screening, Prenat Diagn, 24, 762, 10.1002/pd.974 Wald, 2003, First and second trimester antenatal screening for Down’s syndrome, J Med Screen, 10, 56, 10.1258/096914103321824133