Expected performance of second trimester maternal serum testing followed by a 'genetic sonogram' in screening of fetal Down syndrome

Prenatal Diagnosis

Volumn 28, Issue 3, 2008, Pages 230-235

  Benn, Peter A ^a   Egan, James F X ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

Down syndrome; Maternal serum; Modeling; Prenatal screening; Ultrasound

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN; ESTRIOL; INHIBIN A;

AMNIOCENTESIS; ARTICLE; DISEASE MARKER; DOWN SYNDROME; DRUG EFFICACY; ECHOGRAPHY; FALSE POSITIVE RESULT; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MATERNAL SERUM; MONTE CARLO METHOD; MULTIVARIATE ANALYSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; SEQUENTIAL ANALYSIS; STATISTICAL MODEL;

ADOLESCENT; ADULT; DOWN SYNDROME; FEMALE; HUMANS; MIDDLE AGED; PREGNANCY; PREGNANCY TRIMESTER, SECOND; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; ULTRASONOGRAPHY, PRENATAL;

EID: 41149114548     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1934     Document Type: Article

References (29)

1. Bahado-Singh R, Oz UA, Mendilcioglu I, Mahoney MJ. 2005. The mid-trimester genetic sonogram. Semin Perinatal 29: 209-214.
2. Benn PA, Egan JFX. 2007. Second trimester prenatal ultrasound and screening for Down syndrome. Prenat Diagn 27: 884.
3. Benn PA, Wright D, Cuckle H. 2005. Practical strategies in contingent sequential screening for Down syndrome. Prenat Diagn 25: 645-652.
4. Benn PA, Kaminsky LM, Ying J, Borgida AF, Egan JFX. 2002. Combined second-trimester biochemical and ultrasound screening for Down syndrome. Obstet Gynecol 100: 1168-1176.
5. Borrell A, Mercade I, Casals E, et al. 2007. Combining fetal nuchal fold thickness with second-trimester biochemistry to screen for trisomy 21. Ultrasound Obstet Gynecol 30: 941-945.
6. Breathnach FM, Fleming A, Malone FD. 2007. The second trimester sonogram. Am J Med Genet 145C: 62-72.
7. Chen J, Heffley D, Beazoglou T, Benn PA. 2000. Utilization of amniocentesis by women screen-positive for Down syndrome by the second trimester triple test. Community Genet 3: 24-30.
8. DeVore GR. 2000. Trisomy 21: 91% detection rate using second-trimester ultrasound markers. Ultrasound Obstet Gynecol 16: 133-141.
9. DeVore GR, Romero R. 2001. Combined use of genetic sonography and maternal serum triple-marker screening: an effective method for increasing the detection of trisomy 21 in women younger than 35 years. J Ultrasound Med 20: 645-654.
10. DeVore GR, Romero R. 2002. Genetic sonography: a cost effective method for evaluating women 35 years and older who decline amniocentesis. J Ultrasound Med 21: 5-13.
11. DeVore GR, Romero R. 2003. Genetic sonography: an option for women of advanced maternal age with negative triple-marker maternal serum screening results. J Ultrasound Med 22: 1191-1199.
12. Egan JFX, Kaminsky LM, DeRoche ME, Barsoom MJ, Borgida AF, Benn PA. 2002. Antenatal Down syndrome screening in the U. S. in 2001: A survey of maternal-fetal medicine specialists. Am J Obstet Gynecol 187: 1230-1234.
13. Gianferrari EA, Benn PA, Dries L, Braut K, Egan JFX, Zelop CM. 2007. Absent or shortened nasal bone length and the detection of Down syndrome in the second trimester. Obstet Gynecol 108: 371-374.
14. Malone F, Nyberg DA, Vidaver J, et al. 2004. First and Second Trimester Evaluation of Risk (FASTER) Trial: The role of second trimester genetic sonography. Am J Obstet Gynecol 191S: S3.
15. Maymon R, Zimerman AL, Weinraub Z, Herman A, Cuckle H. 2008. Correlation between nuchal translucency and nuchal skin-fold measurements in Down syndrome and unaffected fetuses. Ultrasound Obstet Gynecol 31: In Press.
16. National Center for Health Statistics. 2004. Vital statistics of the United States, 2000, Natality Data Set. CD ROM, Series 21, 14, Hyattsville, MD.
17. Nyberg D, Luthy D, Resta R, Nyberg BC, Williams MA. 1998. Age adjusted ultrasound risk assessment for fetal Down's syndrome during the second trimester: description of the method and analysis of 142 cases. J Ultrasound Med 18: 469-473.
18. Rozenberg P, Bussières L, Chevret S, et al. 2006. Screening for Down syndrome using first-trimester combined screening followed by second-trimester ultrasound examination in an unselected population. Am J Obstet Gynecol 195: 1379-1387.
19. Shipp T, Benacerraf BR. 2002. Second trimester ultrasound screening for chromosomal abnormalities. Prenat Diagn 22: 296-307.
20. Smith-Bindman R, Chu P, Goldberg JD. 2007. Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn 27: 535-544.
21. Smith-Bindman R, Hosmer W, Feldstein V, Deeks JJ, Goldberg JD. 2001. Second trimester ultrasound to detect fetuses with Down syndrome-a meta-analysis. JAMA 285: 1044-1055.
22. Salomon LJ, Bernard JP, Taupin P, Benard C, Ville Y. 2001. Relationship between nuchal translucency at 11-14 weeks and nuchal fold at 20-24 weeks of gestation. Ultrasound Obstet Gynecol 18: 636-637.
23. Souter VL, Nyberg DA, Benn PA, Zebelman A, Luthardt F, Luthy DA. 2004. Correlation of second-trimester sonographic and biochemical markers. J Ultrasound Med 23: 505-511.
24. Ville YG, Nicolaides KH, Campbell S. 2004. Prenatal diagnosis of fetal malformations by ultrasound. In: Genetic Disorders and the Fetus (5th edn), Milunsky A (ed.). Johns Hopkins University Press: Baltimore; 719-794.
25. Vintzileos A, Egan JFX. 1995. Adjusting the risk for trisomy 21 on the basis of second trimester ultrasound. Am J Obstet Gynecol 172: 837-844.
26. Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA. 1996. The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol 87: 948-952.
27. Wald NJ, Hackshaw AK, George LM. 2000. Assay precision of serum α fetoprotein in antenatal screening for neural tube defects and Down's syndrome. J Med Screen 7: 74-77.
28. Wald NJ, Densem JW, Smith D, Klee GG. 1994. Four-marker serum screening for Down's syndrome. Prenat Diagn 14: 707-716.
29. Wald NJ, Densem JW, George L, Muttukrishna S, Knight PG. 1996. Prenatal screening for Down's syndrome using inhibin-A as a serum marker. Prenat Diagn 16: 143-152, Erratum 1997. Prenat Diagn 17:285-290.