Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation

Ultrasound in Obstetrics and Gynecology

Volumn 33, Issue 3, 2009, Pages 259-264

  Kagan, K O ^a,c   Cicero, S ^a   Staboulidou, I ^a   Wright, D ^b   Nicolaides, K H ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF PLYMOUTH   (United Kingdom)

^c UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

First trimester screening; Free hcg; Nasal bone; Nuchal translucency; PAPP A; Trisomy 21

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ADOLESCENT; ADULT; ANEUPLOIDY; ARTICLE; BONE EXAMINATION; CLASSIFICATION ALGORITHM; CONTROLLED STUDY; FALSE POSITIVE RESULT; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS HEART RATE; FIRST TRIMESTER PREGNANCY; GESTATIONAL AGE; HEALTH CARE POLICY; HORMONE BLOOD LEVEL; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; NASAL BONE; NEGRO; NOSE MALFORMATION; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RISK ASSESSMENT; SCREENING TEST; TRISOMY; TRISOMY 13; TRISOMY 18; TRISOMY 20; TRISOMY 21; TRISOMY 36; TURNER SYNDROME; ALGORITHM; AUTOSOME; BLOOD; DOWN SYNDROME; GENETICS; MIDDLE AGED; PREGNANCY; PROSPECTIVE STUDY; VALIDATION STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; ALGORITHMS; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; CHROMOSOMES, HUMAN, 13-15; CHROMOSOMES, HUMAN, 16-18; DOWN SYNDROME; FEMALE; HEART RATE, FETAL; HUMANS; MATERNAL AGE; MIDDLE AGED; NASAL BONE; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PROSPECTIVE STUDIES; RISK ASSESSMENT; TRISOMY; TURNER SYNDROME; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 61849147473     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.6318     Document Type: Article

References (24)

1. Langdon Down J. Observations on an ethnic classification of idiots. Clinical Lectures and Reports, London Hospital 1866; 3: 259-262.
2. Stempfle N, Huten Y, Fredouille C, Brisse H, Nessmann C. Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study. Pediatr Radiol 1999; 29: 682-688.
3. Keeling JW, Hansen BF, Kjaer I. Pattern of malformations in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet 1997; 68: 466-471.
4. Tuxen A, Keeling JW, Reintoft I, Fischer Hansen B, Nolting D, Kjaer I. A histological and radiological investigation of the nasal bone in fetuses with Down syndrome. Ultrasound Obstet Gynecol 2003; 22: 22-26.
5. Larose C, Massoc P, Hillion Y, Bernard JP, Ville Y. Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and by postmortem X-ray in trisomy 21: a prospective observational study. Ultrasound Obstet Gynecol 2003; 22: 27-30.
6. Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet 2001; 358: 1665-1667.
7. Sonek J, Nicolaides KH. Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndrome. Am J Obstet Gynecol 2002; 186: 139-141.
8. Bromley B, Lieberman E, Shipp TD, Benacerraf BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med 2002; 21: 1387-1394.
9. Cicero S, Sonek JD, McKenna DS, Croom CS, Johnson L, Nicolaides KH. Nasal bone hypoplasia in trisomy 21 at 15-22 weeks' gestation. Ultrasound Obstet Gynecol 2003; 21: 15-18.
10. Sonek JD, Cicero S, Neiger R, Nicolaides KH. Nasal bone assessment in prenatal screening for trisomy 21. Am J Obstet Gynecol 2006; 195: 1219-1230.
11. Cicero S, Avgidou K, Rembouskos G, Kagan KO, Nicolaides KH. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol 2006; 195: 109-114.
12. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2008; 31: 618-624.
13. Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008; 19: 1968-1975.
14. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. 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 1998; 352: 343-346.
15. Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 2005; 25: 221-226.
16. Cicero S, Dezerega V, Andrade E, Scheier M, Nicolaides KH. Learning curve for sonographic examination of the fetal nasal bone at 11 -14 weeks. Ultrasound Obstet Gynecol 2003; 22: 135-137.
17. Office for National Statistics. Birth Statistics. Review of the Registrar General on births and patterns of family building in England and Wales, 2000-2002. Series FM1, No. 29-31. Stationery Office: London.
18. Senat MV, Bernard JP, Boulvain M, Ville Y. Intra-and interoperator variability in fetal nasal bone assessment at 11 -14 weeks of gestation. Ultrasound Obstet Gynecol 2003; 22: 138-141.
19. Orlandi F, Rossi C, Orlandi E, Jakil MC, Hallahan TW, Macri VJ, Krantz DA. First-trimester screening for trisomy-21 using a simplified method to assess the presence or absence of the fetal nasal bone. Am J Obstet Gynecol 2005; 192: 1107-1111.
20. Monni G, Zoppi MA, Ibba RM, Floris M, Manca F, Axiana C. Nuchal translucency and nasal bone for trisomy 21 screening: single center experience. Croat Med J 2005; 46: 786-791.
21. Kozlowski P, Knippel AJ, Froehlich S, Stressig R. Additional performance of nasal bone in first trimester screening. Ultraschall Med 2006; 27: 336-339.
22. Sepulveda W, Wong AE, Dezerega V. First-trimester ultrasonographic screening for trisomy 21 using fetal nuchal translucency and nasal bone. Obstet Gynecol 2007; 109: 1040-1045.
23. Plasencia W, Dagklis T, Sotiriadis A, Borenstein M, Nicolaides KH. Frontomaxillary facial angle at 11 + 0 to 13 + 6 weeks' gestation: reproducibility of measurements. Ultrasound Obstet Gynecol 2007; 29: 18-21.
24. Cicero S, Dezerega V, Andrade E, Scheier M, Nicolaides KH. Learning curve for sonographic examination of the fetal nasal bone at 11-14 weeks. Ultrasound Obstet Gynecol 2003; 22: 135-137.