Hostname: page-component-745bb68f8f-s22k5 Total loading time: 0 Render date: 2025-01-11T21:33:44.719Z Has data issue: false hasContentIssue false
  • English
  • Français

FIRST AND SECOND TRIMESTER SONOGRAPHIC SCREENING FOR FETAL DOWN SYNDROME

Published online by Cambridge University Press:  15 February 2011

JULIA UNTERSCHEIDER  and
FERGAL D MALONE
JULIA UNTERSCHEIDER*
Affiliation:
Royal College of Surgeons in Ireland, Rotunda Hospital, Dublin, Ireland
FERGAL D MALONE
Affiliation:
Royal College of Surgeons in Ireland, Rotunda Hospital, Dublin, Ireland
*
Julia Unterscheider, Royal College of Surgeons in Ireland, Rotunda Hospital, Parnell Square, Dublin 1, Ireland. Email: juliaunterscheider@rcsi.ie
Get access Rights & Permissions [Opens in a new window]

Extract

Screening for Down syndrome is an important part of routine antenatal care and should be made available, if requested, after appropriate counselling including risks and benefits, to all pregnant women, regardless of maternal age. Prenatal screening for fetal Down syndrome and other aneuploidies has advanced significantly since its advent in the 1980s. Historically, women 35 years or older were offered prenatal genetic counselling and the option of a diagnostic test such as chorionic villus sampling or amniocentesis. With this screening approach only 20% to 30% of the fetal Down syndrome population are detected antenatally. Sonographic and maternal biochemical markers are now used in combination to screen for aneuploidies in the first and second trimesters. The most common screening method in the first trimester combines the maternal serum markers HCG and PAPP-A with the sonographic evaluation of fetal nuchal translucency thickness. Newer markers have been proposed to further refine the risk assessment for Down syndrome to maximise detection rates and minimise false positive rates. These newer first trimester markers include sonographic assessment of the fetal nasal bone (NB), the frontomaxillary facial (FMF) angle, ductus venosus (DV) Doppler and tricuspid valve regurgitation (TR).

Type
Research Article
Information
Fetal and Maternal Medicine Review , Volume 22 , Issue 1 , February 2011 , pp. 45 - 66
Copyright
Copyright © Cambridge University Press 2011

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

1Malone, FD, Canick, JA, Ball, RH. First-trimester or second-trimester screening, or both, for Down's syndrome. First and Second Trimester Evaluation of Risk (FASTER) Research Consortium. N Engl J Med 2005; 353: 2001–2011.CrossRefGoogle ScholarPubMed
2Cicero, S, Rembouskos, G, Vandecruys, H, Hogg, M, Nicolaides, KH. Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11–14 week scan. Ultrasound Obstet Gynecol 2004; 23: 218–23.CrossRefGoogle ScholarPubMed
3Maiz, N, Kagan, KO, Milovanovic, Z, Celik, E, Nicolaides, KH. Learning curve for Doppler assessment of ductus venosus flow at 11+0 to 13+6 weeks’ gestation. Ultrasound Obstet Gynecol 2008; 31: 503–506.CrossRefGoogle ScholarPubMed
4Falcon, O, Faiola, S, Huggon, I, Allan, L, Nicolaides, KH. Fetal tricuspid regurgitation at the 11+0 to 13+6-week scan: association with chromosomal defects and reproducibility of the method. Ultrasound Obstet Gynecol 2006; 27: 609–12.CrossRefGoogle ScholarPubMed
5Sonek, J, Borenstein, M, Dagklis, T, Persico, N, Nicolaides, KH. Frontomaxillary facial angle in fetuses with trisomy 21 at 11- 13+6 weeks. Am J Obstet Gynecol 2007; 196: 271.e1–271.e4.CrossRefGoogle ScholarPubMed
6Evans, MI, Van Decruyes, H, Nicolaides, KH. Nuchal translucency measurements for first-trimester screening: the ‘price’ of inaccuracy. Fetal Diagn Ther 2007; 22: 401–404.CrossRefGoogle Scholar
7D'Alton, ME, Cleary-Goldman, J, Lambert-Messerlian, G, Ball, RH, Nyberg, DA, Comstock, CH et al. Maintaining quality assurance for sonographic nuchal translucency measurement: lessons from the FASTER Trial. Ultrasound Obstet Gynecol 2009; 33: 142–46.CrossRefGoogle ScholarPubMed
8Nyberg, DA, Malone, FD, Ball, RH, Nyberg, DA, Comstock, CH, Saade, GR, Berkowitz, RL et al. First trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet Gynecol 2005; 106: 288—94.Google Scholar
9Comstock, CH, Malone, FD, Ball, RH, Nyberg, DA, Saade, GR, Berkowitz, RL et al. Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester screening? Am J Obstet Gynecol 2006; 195: 843–47.CrossRefGoogle Scholar
10Driscoll, DA, Gross, SJfor the Professional Practice Guidelines Committee. Screening for fetal aneuploidy and neural tube defects. Genet Med 2009; 11: 818–21.CrossRefGoogle ScholarPubMed
11Molina, FS, Avgidou, K, Kagan, KO, Poggi, S, Nicolaides, KH. Cystic hygromas, nuchal edema, and nuchal translucency at 11–14 weeks of gestation. Obstet Gynecol 2006; 107: 678–83.CrossRefGoogle ScholarPubMed
12Sandikcioglu, M, Mølsted, K, Kjaer, I. The prenatal development of the human nasal and vomeral bones. J Craniofac Genet Dev Biol 1994; 14: 124–34.Google ScholarPubMed
13Cicero, S, Curcio, P, Papageorghiou, A, Sonek, J, Nicolaides, KH. Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001; 358: 1665–667.CrossRefGoogle ScholarPubMed
14De Biasio, PD, Venturini, PL. Absence of the nasal bone and detection of trisomy 21. Lancet 2002; 359: 1344–345.CrossRefGoogle ScholarPubMed
15Borenstein, M, Persico, N, Kaihura, C, Sonek, J, Nicolaides, KH. Frontomaxillary facial angle in chromosomally normal fetuses at 11+0 to 13+6 weeks. Ultrasound Obstet Gynecol 2007; 30: 737–41.CrossRefGoogle ScholarPubMed
16Borenstein, M, Persico, N, Kagan, KO, Gazzoni, A, Nicolaides, KH. Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks. Ultrasound Obstet Gynecol 2008; 32: 5–11.CrossRefGoogle ScholarPubMed
17Alphonse, J, Cox, J, Clarke, J, Schluter, PJ, McLennan, A.Comparison of Frontomaxillary Facial Angles Using Both 2D and 3D Ultrasound at 11+0 to 13+6 Weeks of Gestation. Fetal Diagn Ther 2010; 28: 14–21.CrossRefGoogle ScholarPubMed
18Yang, X, Chen, M, Wang, HF, Leung, TY, Borenstein, M, Nicolaides, K, Sahota, DS, Lau, TK. Learning curve in measurement of fetal frontomaxillary facial angle at 11–13 weeks of gestation. Ultrasound Obstet Gynecol. 2010 May; 35: 530–34.CrossRefGoogle ScholarPubMed
19Oh, C, Harman, C, Baschat, AA. Abnormal first-trimester ductus venosus blood flow: a risk factor for adverse outcome in fetuses with normal nuchal translucency. Ultrasound Obstet Gynecol 2007; 30: 192–96.CrossRefGoogle ScholarPubMed
20Nicolaides, 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-oriented two-stage first trimester screening. Ultrasound Obstet Gynecol 2005; 25: 221–26.CrossRefGoogle Scholar
21Maiz, N, Valencia, C, Emmanuel, EE, Staboulidou, I, Nicolaides, KH: Screening for adverse pregnancy outcome by ductus venosus Doppler at 11–13 + 6 weeks of gestation. Obstet Gynecol 2008; 112: 598–605.CrossRefGoogle ScholarPubMed
22Borrell, A.Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy. Prenat Diagn 2009; 29: 62–68.CrossRefGoogle ScholarPubMed
23Huggon, IC, DeFigueiredo, DB, Allan, LD. Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11–14 weeks of gestation. Heart 2003; 89: 1071–1073.CrossRefGoogle ScholarPubMed
24Faiola, S, Tsoi, E, Huggon, IC, Allan, LD, Nicolaides, KH. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13+6-week scan. Ultrasound Obstet Gynecol 2005; 26: 22–27.CrossRefGoogle ScholarPubMed
25Benacerraf, BR.The history of the second-trimester sonographic markers for detecting fetal Down syndrome, and their current role in obstetric practice. Prenat Diagn 2010; 30: 644–52.CrossRefGoogle ScholarPubMed
26Nyberg, DA, Luthy, DA, Resta, RG, Nyberg, BC, Williams, MA. Age-adjusted ultrasound risk assessment for fetal Down's syndrome during the second trimester: description of the method and analysis of 142 cases. Ultrasound Obstet Gynecol 1998; 12: 8–14.CrossRefGoogle ScholarPubMed
27Nyberg, DA, Souter, VL, El-Bastawissi, A, Young, S, Luthhardt, F, Luthy, DA. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 2001; 20: 1053–1063.CrossRefGoogle ScholarPubMed
28Aagaard-Tillery, KM, Malone, FD, Nyberg, DA, Porter, TF, Cuckle, HS, Fuchs, K et al. Role of second-trimester genetic sonography after Down syndrome screening. Obstet Gynecol 2009; 114: 1189–196.CrossRefGoogle ScholarPubMed
29Geipel, A, Willruth, A, Vieten, J, Gembruch, U, Berg, C. Nuchal fold thickness, nasal bone absence or hypoplasia, ductus venosus reversed flow and tricuspid valve regurgitation in screening for trisomies 21, 18 and 13 in the early second trimester. Ultrasound Obstet Gynecol 2010; 35: 535–39.CrossRefGoogle ScholarPubMed
30Shipp, TD, Benacerraf, BR. Second trimester ultrasound screening for chromosomal abnormalities. Prenat Diagn 2002; 22: 296–307.CrossRefGoogle ScholarPubMed
31Benacerraf, BR.The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Semin Perinatol 2005; 29: 386–94.CrossRefGoogle ScholarPubMed
32Bromley, B, Lieberman, E, Shipp, TD, Benacerraf, BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med 2002; 12: 1387–394.CrossRefGoogle Scholar
33Nyberg, DA, Resta, RG, Luthy, DA, Hickok, DE, Mahony, BS, Hirsch, JH. Prenatal sonographic findings of Down syndrome: review of 94 cases. Obstet Gynecol 1990; 76: 370–77.Google ScholarPubMed
34Bromley, B, Doubilet, P, Frigoletto, FD, Krauss, C, Estroff, JA, Benacerraf, BR. Is fetal hyperechoic bowel on second-trimester sonogram an indication for amniocentesis? Obstet Gynecol 1994; 83: 647–51.Google ScholarPubMed
35Sepulveda, W, Sebire, NJ. Fetal echogenic bowel: a complex scenario. Ultrasound Obstet Gynecol 2002; 16: 510–14.CrossRefGoogle Scholar
36Van Den Hof, MC, Wilson, RD; Diagnostic Imaging Committee, Society of Obstetricians and Gynaecologists of Canada; Genetics Committee, Society of Obstetricians and Gynaecologists of Canada. Fetal soft markers in obstetric ultrasound. J Obstet Gynaecol Can 2005; 27: 592–636.Google ScholarPubMed
37Smith-Bindman, R, Hosmer, W, Feldstein, VA, Deeks, JJ, Goldberg, JD. Second-trimester ultrasound to detect fetuses with Down syndrome. JAMA 2001; 285: 1044–55.CrossRefGoogle ScholarPubMed
38Benacerraf, BR, Mandell, J, Estroff, JA, Harlow, BL, Frigoletto, FD Jr. Fetal pyelectasis: a possible association with Down syndrome. Obstet Gynecol 1990; 76: 58–60.Google ScholarPubMed
39Evans, MI, Krantz, DA, Hallahan, TW, Sherwin, JE. Undermeasurement of nuchal translucencies: implications for screening. Obstet Gynecol 2010; 116: 815–18.CrossRefGoogle ScholarPubMed
40Favre, R, Moutel, G, Duchange, N, Vayssière, C, Kohler, M, Bouffet, N et al. What about informed consent in first-trimester ultrasound screening for Down Syndrome? Fetal Diagn Ther 2008; 23: 173–84.CrossRefGoogle ScholarPubMed
41Kleinveld, JH, Ten Kate, LP, Van Den Berg, M, van Vugt, JM, Timmermans, DR. Does informed decision making influence psychological outcomes after receiving a positive screening outcome? Prenat Diagn 2009; 29: 271–73.CrossRefGoogle ScholarPubMed
42Kirwan, D and the NHS Fetal Anomaly Screening Programme in collaboration with the Royal College of Obstetricians and Gynaecologist (RCOG), British Maternal and Fetal Medicine Society (BMFMS) and the Society and College of Radiographers (SCoR). 18+0 to 20+6 Weeks Fetal Anomaly Scan National Standards and Guidance for England. 2010. p 71.Google Scholar