Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 18 , ISSUE 4 ( October-December, 2024 ) > List of Articles

REVIEW ARTICLE

First-trimester Ultrasound Screening for Fetal Anomalies and Adverse Pregnancy Outcomes

Jon Hyett, Jiri Sonek

Keywords : Color Doppler, Fetal anomalies, First-trimester ultrasound, Gray-scale examination, Screening

Citation Information : Hyett J, Sonek J. First-trimester Ultrasound Screening for Fetal Anomalies and Adverse Pregnancy Outcomes. Donald School J Ultrasound Obstet Gynecol 2024; 18 (4):328-351.

DOI: 10.5005/jp-journals-10009-2058

License: CC BY-NC 4.0

Published Online: 20-12-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Abstract

Over the past 40 years, ultrasound has become established as an invaluable tool in obstetric management. There has been a steady increase in our understanding of normal and abnormal fetal physiology, along with an improvement in the quality of ultrasound equipment. This has not only led to our ability to diagnose an ever-increasing number of fetal conditions but has also moved the point of diagnosis to an earlier gestation. This benefits the patient in a number of ways, not the least of which is maintaining the maximum level of privacy and preservation of reproductive choices.


PDF Share
  1. Down LJ. Observations on an ethnic classification of idiots. Clin Lectures Rep Lond Hosp 1866;3:259–262.
  2. Kagan KO, Wright D, Valencia C, et al. 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;23:1968–1975. DOI: 10.1093/humrep/den224
  3. Kagan KO, Cicero S, Staboulidou I, et al. Fetal nasal bone in screening for trisomy 21, 18, 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:259–264. DOI: 10.1002/uog.6318
  4. Borenstein M, Persico N, Kagan KO, et al. Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks. Ultrasound Obstet Gynecol 2008;32(1):5–11. DOI: 10.1002/uog.5334
  5. Vis JC, Duffels MGJ, Winter MM, et al. Down syndrome: a cardiovascular perspective. J Intellect Disabil Res 2009;53(5):419–425. DOI: 10.1111/j.1365-2788.2009.01158.x
  6. Recalde AL, Landing BH, Lipsey AI. Increased cardiac muscle size and reduced cell number in Down syndrome: heart muscle cell number in Down syndrome. Pediatric Pathol 1986;6(1):47–53. DOI: 10.3109/15513818609025924
  7. Gittenberger-De Groot AC, Bartram U, Oosthoek PW, et al. Collagen type VI expression during cardiac development and in human fetuses with trisomy 21. Anat Rec A Discov Mol Cell Evol Bio 2003;275(2):1109–1116. DOI: 10.1002/ar.a.10126
  8. Carvalhaes LS, Gervásio OL, Guatimosim C, et al. Collagen XVIII/endostatin is associated with the epithelial-mesenchymal transformation in the atrioventricular valves during cardiac development. Dev Dynamics 2006;235(1):132–142. DOI: 10.1002/dvdy.20556
  9. Huggon 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(9):1071–1073. DOI: 10.1136/heart.89.9.1071
  10. Faiola S, Tsoi E, Huggon IC, et al. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13+6 week scan. Ultrasound Obstet Gynecol 2005;26(1):22–27. DOI: 10.1002/uog.1922
  11. Kagan KO, Valencia C, Livanos P, et al. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. Ultrasound Obstet Gynecol 2009;33(1):18–22. DOI: 10.1002/uog.6264
  12. Maiz N, Valencia C, Emmanuel EE, et al. Screening for adverse pregnancy outcome by ductus venosus Doppler at 11-13+6 weeks of gestation. Obstet Gynecol 2008;112(3):598–605. DOI: 10.1097/AOG.0b013e3181834608
  13. Mavrides E, Sairam S, Hollis B, et al. Screening for aneuploidy in the first trimester by assessment of blood flow in the ductus venosus. BJOG 2002;109(9):1015–1019. DOI: 10.1111/j.1471-0528.2002.01482.x
  14. Murta CG, Moron AF, Avila MA, et al. Application of ductus venosus Doppler velocimetry for the detection of fetal aneuploidy in the first trimester of pregnancy. Fetal Diagn Ther 2002;17(5):308–314. DOI: 10.1159/000063185
  15. Zoppi MA, Putzolu M, Ibba RM, et al. First-trimester ductus venosus velocimetry in relation to nuchal translucency thickness and fetal karyotype. Fetal Diagn Ther 2002;17(1):52–57. DOI: 10.1159/000048007
  16. Borrell A, Martinez JM, Seres A, et al. Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy. Prenat Diagn 2003;23(11):921–926. DOI: 10.1002/pd.716
  17. Maiz N, Valencia C, Kagan KO, et al. Ductus venosus Doppler in screening for trisomies 21, 18, and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009;33(5):512–517. DOI: 10.1002/uog.6330
  18. Bilardo CM, Müller MA, Zikulnig L, et al. Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: relationship with nuchal translucency measurement and fetal outcome. Ultrasound Obstet Gynecol 2001;17(4):288–294. DOI: 10.1046/j.1469-0705.2001.00387.x
  19. Maiz N, Plasencia W, Daklis T, et al. Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness. Ultrasound Obstet Gynecol 2008;31(3):256–260. DOI: 10.1002/uog.5262
  20. Liao AW, Snijders R, Geerts L, et al. Fetal heart rate in chromosomally abnormal fetuses. Ultrasound Obstet Gynecol 2000;16(7):610–613. DOI: 10.1046/j.1469-0705.2000.00292.x
  21. Spencer K, Souter V, Tul N, et al. A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13(4):231–237. DOI: 10.1046/j.1469-0705.1999.13040231.x
  22. Wagner P, Sonek J, Hoopmann M, et al. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan. Ultrasound Obstet Gynecol 2016;48:446–451. DOI: 10.1002/uog.15829
  23. Syngelaki A, Pergament E, Homfray T, et al. Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther 2014;35:174–184. DOI: 10.1159/000358388
  24. Vogel I, Tabor A, Ekelund C, et al. Population-based screening for trisomies and atypical chromosomal abnormalities: improving efficacy using the combined first trimester screening algorithm as well as individual risk parameters. Fetal Diagn Ther 2019;45:424–429. DOI: 10.1159/000492152
  25. Chen FC, Gerhardt J, Entezami M, et al. Detection of Spina Bifida by First Trimester Screening - Results of the Prospective Multicenter Berlin IT-Study. Ultraschall Med 2017;38(2):151–157. DOI: 10.1055/s-0034-1399483
  26. Chaoui R, Orosz G, Heling KS, et al. Maxillary gap at 11-13 weeks’ gestation: marker of cleft lip and palate. Ultrasound Obstet Gynecol 2015;46(6):665–669. DOI: 10.1002/uog.15675
  27. Poon LC, Kametas NA, Maiz N, et al. First-trimester prediction of hypertensive disorders in pregnancy. Hypertension 2009;53(5):812–818. DOI: 10.1161/HYPERTENSIONAHA.108.127977
  28. Wright D, Tan MY, O'Gorman N, et al. Predictive performance of the competing risk model in screening for preeclampsia. Am J Obstet Gynecol 2019;220(2):199.e1–199.e13. DOI: 10.1016/j.ajog.2018.11.1087
  29. Poon LC, Shennan A, Hyett JA, et al. The International Federation of Gynecology and Obstetrics (FIGO) initiative on pre-eclampsia: a pragmatic guide for first-trimester screening and prevention. Int J Gynaecol Obstet 2019;145(Suppl 1):1–33. DOI: 10.1002/ijgo.12802
  30. Rolnik DL, Wright D, Poon LC, et al. Aspirin versus placebo in pregnancies at high risk for preterm preeclampsia. N Engl J Med 2017;377(7):613–622. DOI: 10.1056/NEJMoa1704559
  31. Cuckle H, Benn P, Wright D. Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters. Semin Perinatol 2005;29(4):252–257. DOI: 10.1053/j.semperi.2005.05.004
  32. Hyett J, Moscoso G, Papapanagiotou G, et al. Abnormalities of the heart and great arteries in chromosomally normal fetuses with increased nuchal translucency thickness at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 1996;7(4):245–250. DOI: 10.1046/j.1469-0705.1996.07040245.x
  33. Schwarzler P, Carvalho JS, Senat MV, et al. Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal translucency thickness measurement at 10–14 weeks of gestation as part of routine antenatal care in an unselected population. Br J Obstet Gynaecol 1999;106(10):1029–1034. DOI: 10.1111/j.1471-0528.1999.tb08109.x
  34. Bahado-Singh RO, Wapner R, Thom E, et al. Elevated first-trimester nuchal translucency increases the risk of congenital heart defects. Am J Obstet Gynecol 2005;192(5):1357–1361. DOI: 10.1016/j.ajog.2004.12.086
  35. Moselhi M, Thilaganathan B. Nuchal translucency: a marker for the antenatal diagnosis of aortic coarctation. Br J Obstet Gynaecol 1996;103(10):1044–1045. DOI: 10.1111/j.1471-0528.1996.tb09559.x
  36. Hyett JA, Perdu M, Sharland GK, et al. Increased nuchal translucency at 10–14 weeks of gestation as a marker for major cardiac defects. Ultrasound Obstet Gynecol 1997;10(4):242–246. DOI: 10.1046/j.1469-0705.1997.10040242.x
  37. Zosmer N, Souter VL, Chan CSY, et al. Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency. Br J Obstet Gynaecol 1999;106(8):829–833. DOI: 10.1111/j.1471-0528.1999.tb08405.x
  38. Ghi T, Huggon IC, Zosmer N, et al. Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasound Obstet Gynecol 2001;18(6):610–614. DOI: 10.1046/j.0960-7692.2001.00584.x
  39. Lopes LM, Brizot ML, Lopes MA, et al. Structural and functional cardiac abnormalities identified prior to 16 weeks of gestation in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 2003;22(5):470–478. DOI: 10.1002/uog.905
  40. Galindo A, Comas C, Martinez JM, et al. Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation. J Matern Fetal Neonatal Med 2003;13(3):163–170. DOI: 10.1080/jmf.13.3.163.170
  41. McAuliffe F, Winsor S, Hornberger LK, et al. Fetal cardiac defects and increased nuchal translucency thickness. Am J Obstet Gynecol 2003;189:571. DOI: 10.1016/j.ajog.2004.05.049
  42. Hyett J, Perdu M, Sharland G, et al. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10–14 weeks of gestation: population-based cohort study. BMJ 1999;318(7176):81–85. DOI: 10.1136/bmj.318.7176.81
  43. Mavrides E, Cobian-Sanchez F, Tekay A, et al. Limitations of using first trimester nuchal translucency measurement in routine screening for major congenital heart defects. Ultrasound Obstet Gynecol 2001;17(2):106–110. DOI: 10.1046/j.1469-0705.2001.00342.x
  44. Orvos H, Wayda K, Kozinszky Z, et al. Increased nuchal translucency and congenital heart defects in euploid fetuses. The Szeged experience. Eur J Obstet Gynecol Reprod Biol 2002;101(2):124–128. DOI: 10.1016/s0301-2115(01)00528-0
  45. Hafner E, Schuller T, Metzenbauer M, et al. Increased nuchal translucency and congenital heart defects in a low-risk population. Prenat Diagn 2003;23(12):985–989. DOI: 10.1002/pd.721
  46. Makrydimas G, Sotiriadis A, Ioannidis JP. Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis. Am J Obstet Gynecol 2003;189(5):1330–1335. DOI: 10.1067/s0002-9378(03)00645-8
  47. Schemm S, Gembruch U, Germer U, et al. Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex associated with increased nuchal translucency. Ultrasound Obstet Gynecol 2003;22(1):95–97. DOI: 10.1002/uog.126
  48. Sebire NJ, Snijders RJM, Davenport M, et al. Fetal nuchal translucency thickness at 10–14 weeks of gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997;90(6):943–946. DOI: 10.1016/s0029-7844(97)89686-x
  49. Smrcek JM, Germer U, Krokowski M, et al. Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies. Ultrasound Obstet Gynecol 2003;21(4):322–328. DOI: 10.1002/uog.84
  50. Monteagudo A, Mayberry P, Rebarber A, et al. Sirenomelia sequence: first-trimester diagnosis with both two- and three-dimensional sonography. J Ultrasound Med 2002;21(8):915–920. DOI: 10.7863/jum.2002.21.8.915
  51. Souka AP, Snidjers RJM, Novakov A, et al. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency at 10–14 weeks of gestation. Ultrasound Obstet Gynecol 1998;11(6):391–400. DOI: 10.1046/j.1469-0705.1998.11060391.x
  52. Souka A, Heath V. Increased nuchal translucency with normal karyotype. In: Sebire NJ, Snijders RJM, Nicolaides KH, editors. The 11–14 Week Scan: Diagnosis of Fetal Abnormalities. Carnforth (UK): Parthenon Publishing; 1999. p. 67–88.
  53. Souka AP, Von Kaisenberg CS, Hyett JA, et al. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005;192(4):1005–1021. DOI: 10.1016/j.ajog.2004.12.093
  54. Ben Ami M, Perlitz Y, Haddad S, et al. Increased nuchal translucency is associated with asphyxiating thoracic dysplasia. Ultrasound Obstet Gynecol 1997;10(4):297–298. DOI: 10.1046/j.1469-0705.1997.10040297.x
  55. Soothill PW, Vuthiwong C, Rees H. Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks of gestation. Prenat Diagn 1993;13(6):523–528. DOI: 10.1002/pd.1970130615
  56. Makrydimas G, Souka A, Skentou H, et al. Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester. Am J Med Genet 2001;98(2):117–120. PMID: 11223845.
  57. Meizner I, Barnhard Y. Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks of gestation. Am J Obstet Gynecol 1995;173(5):1620–1622. DOI: 10.1016/0002-9378(95)90660-6
  58. den Hollander NS, van der Harten HJ, Vermeij-Keers C, et al. First trimester diagnosis of Blomstrand lethal osteochondro-dysplasia. Am J Med Genet 1997;73(3):345–350. PMID: 9415697.
  59. Souka AP, Raymond FL, Mornet E, et al. Hypophosphatasia associated with increased nuchal translucency: a report of three consecutive pregnancies. Ultrasound Obstet Gynecol 2002;20:294–295. DOI: 10.1046/j.1469-0705.2002.00793.x
  60. Eliyahu S, Weiner E, Lahav D, et al. Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. Ultrasound Obstet Gynecol 1997;9(5):314–318. DOI: 10.1046/j.1469-0705.1997.09050314.x
  61. Souter V, Nyberg D, Siebert JR, et al. Upper limb phoco-melia associated with increased nuchal translucency in a monochorionic twin pregnancy. J Ultrasound Med 2002;21(3):355–360. DOI: 10.7863/jum.2002.21.3.355
  62. Petrikovsky BM, Gross B, Bialer M, et al. Prenatal diagnosis of pseudothalidomide syndrome in consecutive pregnancies of a consanguineous couple. Ultrasound Obstet Gynecol 1997;10(6):425–458. DOI: 10.1046/j.1469-0705.1997.10060425.x
  63. Percin EF, Guvenal T, Cetin A, et al. First-trimester diagnosis of Robinow syndrome. Fetal Diagn Ther 2001;16(5):308–311. DOI: 10.1159/000053933
  64. Hill LM, Leary J. Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks of gestation. Prenat Diagn 1998;18(11):1198–1201. PMID: 9854733.
  65. Achiron R, Heggesh J, Grisaru D, et al. Noonan syndrome: a cryptic condition in early gestation. Am J Med Genet 2000;92(3):159–165. DOI: 10.1002/(sici)1096-8628(20000529)92:3<159::aid-ajmg1>3.0.co;2-2
  66. Souka AP, Krampl E, Geerts L, et al. Congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation. Prenat Diagn 2002;22(2):91–92. PMID: 11857608.
  67. Fincham J, Pandya PP, Yuksel B, et al. Increased first-trimester nuchal translucency as a prenatal manifestation of salt-wasting congenital adrenal hyperplasia. Ultrasound Obstet Gynecol 2002;20(4):392–394. DOI: 10.1046/j.1469-0705.2002.00803.x
  68. Souka AP, Skentou H, Geerts L, et al. Congenital nephrotic syndrome presenting with increased nuchal translucency in the first trimester. Prenat Diagn 2002;22(2):93–95. DOI: 10.1002/pd.121
  69. Hyett J, Noble P, Sebire NJ, et al. Lethal congenital arthrogryposis presents with increased nuchal translucency at 10–14 weeks of gestation. Ultrasound Obstet Gynecol 1997;9(5):310–313. DOI: 10.1046/j.1469-0705.1997.09050310.x
  70. Rijhsinghani A, Yankowitz J, Howser D, et al. Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy. Prenat Diagn 1997;17(2):166–169. DOI: 10.1002/(sici)1097-0223(199702)17:2<166::aid-pd14>3.0.co;2-d
  71. de Jong-Pleij EA, Stoutenbecek P, van der Mark-Batseva NN, et al. The association of spinal muscular atrophy type II and increased nuchal translucency. Ultrasound Obstet Gynecol 2002;19(3):312–313. DOI: 10.1046/j.1469-0705.2002.00518.x
  72. Lam YH, Tang MH, Lee CP, et al. Nuchal translucency in fetuses affected by homozygous a-thalassemia-1 at 12–13 weeks of gestation. Ultrasound Obstet Gynecol 1999;13(4):238–240. DOI: 10.1046/j.1469-0705.1999.13040238.x
  73. Souka AP, Bower S, Geerts L, et al. Blackfan-Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation. Ultrasound Obstet Gynecol 2002;20(2):197–199. DOI: 10.1046/j.1469-0705.2002.00753.x
  74. Pannier E, Viot G, Aubry MC, et al. Congenital erythropoietic porphyria (Gunther's disease): two cases with very early prenatal manifestation and cystic hydroma. Prenat Diagn 2003;23(1):25–30. DOI: 10.1002/pd.491
  75. Tercanli S, Miny P, Siebert MS, et al. Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound. Ultrasound Obstet Gynecol 2001;17(2):160–162. DOI: 10.1046/j.1469-0705.2001.00321.x
  76. Petrikovsky BM, Baker D, Schneider E. Fetal hydrops secondary to human parvovirus infection in early pregnancy. Prenat Diagn 1996;16(4):342–344. DOI: 10.1002/(SICI)1097-0223(199604)16:4<342::AID-PD851>3.0.CO;2-F
  77. Markenson G, Correia LA, Cohn G, et al. Parvoviral infection associated with increased nuchal translucency: a case report. J Perinatol 2000;20(2):129–131. DOI: 10.1038/sj.jp.7200286
  78. Smulian JC, Egan JF, Rodis JF. Fetal hydrops in the first trimester associated with maternal parvovirus infection. J Clin Ultrasound 1998;26(6):314–316. DOI: 10.1002/(sici)1097-0096(199807/08)26:6<314::aid-jcu6>3.0.co;2-l
  79. Becker R, Wegner RD. Detailed screening for fetal anomalies and cardiac defects at the 11–13 week scan. Ultrasound Obstet Gynecol 2006;27(6):613–618. DOI: 10.1002/uog.2709
  80. Green JJ, Hobbins JC. Abdominal ultrasound examination of the first trimester fetus. Am J Obstet Gynecol 1988;159(1):165–175. DOI: 10.1016/0002-9378(88)90515-7
  81. Rottem S, Bronshtein M, Thaler I, et al. First trimester transvaginal sonographic diagnosis of fetal anomalies. Lancet 1989;1(8635):444–445. DOI: 10.1016/s0140-6736(89)90046-9
  82. Johnson P, Sharland G, Maxwell D, et al. The role of transvaginal sonography in the early detection of congenital heart disease. Ultrasound Obstet Gynecol 1992;2(4):248–251. DOI: 10.1046/j.1469-0705.1992.02040248.x
  83. Braithwaite JM, Armstrong MA, Economides DL. Assessment of fetal anatomy at 12 to 13 weeks of gestation by transabdominal and transvaginal sonography. Br J Obstet Gynaecol 1996;103(1):82–85. DOI: 10.1111/j.1471-0528.1996.tb09520.x
  84. Hernadi L, Torocsik M. Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population. Prenat Diagn 1997;17(8):753–759. DOI: 10.1002/(sici)1097-0223(199708)17:8<753::aid-pd148>3.0.co;2-p
  85. Economides DL, Braithwaite JM. First trimester ultrasonographic diagnosis of fetal structural abnormalities in a low risk population. Br J Obstet Gynaecol 1998;105(1):53–57. DOI: 10.1111/j.1471-0528.1998.tb09350.x
  86. Carvalho MH, Brizot ML, Lopes LM, et al. Detection of fetal structural abnormalities at the 11–14 week ultrasound scan. Prenat Diagn 2002;22(1):1–4. DOI: 10.1002/pd.200
  87. Souka AP, Pilalis A, Kavalakis I, et al. Screening for major structural abnormalities at the 11- to 14-week ultrasound scan. Am J Obstet Gynecol 2006;194(2):393–396. DOI: 10.1016/j.ajog.2005.08.032
  88. Gembruch U, Knöpfle G, Bald R, et al. Early diagnosis of fetal congenital heart disease by transvaginal echocardiography. Ultrasound Obstet Gynecol 1993;3(5):310–317. DOI: 10.1046/j.1469-0705.1993.03050310.x
  89. Achiron R, Rotstein Z, Lipitz S, et al. First-trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography. Obstet Gynecol 1994;84(1):69–72. PMID: 8008327.
  90. Smrcek JM, Gembruch U, Krokowski M, et al. The evaluation of cardiac biometry in major cardiac defects detected in early pregnancy. Arch Gynecol Obstet 2003;268(2):94–101. DOI: 10.1007/s00404-002-0358-8
  91. Wisser J, Dirschedl P, Krone S. Estimation of gestational age by transvaginal sonographic measurements of greatest embryonic length in dated human embryos. Ultrasound Obstet Gynecol 1994;4(6):457–462. DOI: 10.1046/j.1469-0705.1994.04060457.x
  92. Monteagudo A, Timor-Tritsch I, Sharma S. Early and simple determination of chorionic and amniotic type in multifetal gestations in the first 14 weeks by high frequency transvaginal ultrasound. Am J Obstet Gynecol 1994;170(3):824–829. DOI: 10.1016/s0002-9378(94)70291-8
  93. Sepulveda W, Sebire NJ, Hughes K, et al. The lambda sign at 10–14 weeks of gestation as a predictor of chorionicity in twin pregnancies. Ultrasound Obstet Gynecol 1996;7(6):421–423. DOI: 10.1046/j.1469-0705.1996.07060421.x
  94. Selpuveda W, Sebire NJ, Hughes K, et al. Evolution of the lambda or twin/chorionic peak sign in dichorionic twin pregnancies. Obstet Gynecol 1997;89(3):439–441. DOI: 10.1016/S0029-7844(97)85858-9
  95. Sebire NJ, Snijders RJ, Hughes K, et al. The hidden mortality of monochorionic twin pregnancies. Br J Obstet Gynaecol 1997;104(10):1203–1207. DOI: 10.1111/j.1471-0528.1997.tb10948.x
  96. Noble PL, Snijders RJ, Abraha HD, et al. Maternal serum free beta-hCG at 10 to 14 weeks in trisomic twin pregnancies. Br J Obstet Gynaecol 1997;104(6):741–743. DOI: 10.1111/j.1471-0528.1997.tb11989.x
  97. Spencer K. Screening for trisomy 21 in twin pregnancies in the first trimester using free beta-hCG and PAPP-A, combined with fetal nuchal translucency thickness. Prenat Diagn 2000;20(2):91–95. DOI: 10.1002/(sici)1097-0223(200002)20:2<91::aid-pd759>3.0.co;2-x
  98. Spencer K, Nicolaides KH. Screening for trisomy 21 in twins using first trimester ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years experience. BJOG 2003;110(3):276–280. PMID: 12628267.
  99. Kagan KO, Gassoni A, Selpuveda-Gonzalez G, et al. Discordance in nuchal translucency thickness in the prediction of severe twin-to-twin transfusion syndrome. Ultrasound Obstet Gynecol 2007;29(5):527–532. DOI: 10.1002/uog.4006
  100. Maiz N, Staboulidou I, Leal AM, et al. Ductus venosus Doppler at 11 to 13 weeks of gestation in the prediction of outcome in twin pregnancies. Obstet Gynecol 2009;113(4):860–865. DOI: 10.1097/AOG.0b013e31819c9f66
  101. Souka AP, Pilalis A, Kavalakis Y, et al. Assessment of fetal anatomy at the 11–14 week ultrasound examination. Ultrasound Obstet Gynecol 2004;24(7):730–734. DOI: 10.1002/uog.1775
  102. van Zalen-Sprock RM, van Vugt JMG, van Geijn HP. First-trimester sonography of physiological midgut herniation and early diagnosis of omphalocele. Prenat Diagn 1997;17(6):511–518. PMID: 9203209.
  103. Snijders RJ, Sebire NJ, Souka A, et al. Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation. Ultrasound Obstet Gynecol 1995;6(4):250–255. DOI: 10.1046/j.1469-0705.1995.06040250.x
  104. Johnson SP, Sebire NJ, Snijders RJ, et al. Ultrasound screening for anencephaly at 10–14 weeks of gestation. Ultrasound Obstet Gynecol 1997;9(1):14–16. DOI: 10.1046/j.1469-0705.1997.09010014.x
  105. Sandikcioglu M, Molsted K, Kjaer I. The prenatal development of the human nasal and vomeral bones. J Craniofac Genet Dev Biol 1994;14(2):124–134. PMID: 8071424.
  106. Makikallio K, Jouppila P, Rasanen J. Human fetal cardiac function during the first trimester of pregnancy. Heart 2005;91(3):334–338. DOI: 10.1136/hrt.2003.029736
  107. Wright D, Kagan KO, Molina FS, et al. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 2008;31(4):376–383. DOI: 10.1002/uog.5299
  108. Whitlow BJ, Economides DL. The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 1998;11(4):258–261. DOI: 10.1046/j.1469-0705.1998.11040258.x
  109. Mulvey S, Baker L, Edwards A, et al. Optimizing the timing for nuchal translucency measurement. Prenat Diagn 2002;22(9):775–777. DOI: 10.1002/pd.406
  110. Nicolaides KH, Brizot ML, Snijders RJ. Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester. Br J Obstet Gynaecol 1994;101(9):782–786. DOI: 10.1111/j.1471-0528.1994.tb11946.x
  111. Uehara S, Yaegashi N, Maeda T, et al. Risk of recurrence of fetal chromosomal aberration: analysis of trisomy 21, trisomy 18, trisomy 13, and 45 X, in 1,076 Japanese mothers. J Obstet Gynaecol Res 1999;25(6):373–379. DOI: 10.1111/j.1447-0756.1999.tb01180.x
  112. UK National Screening Committee Policy. Down's Syndrome Screening. Compiled by the National Screening Committee; 2006. Available from: http://www.library.nhs.uk/screening [Last accessed February 2011].
  113. Chalouhi GE, Bernard JP, Ville Y, et al. A comparison of first trimester measurements for prediction of delivery date. J Matern Fetal Neonatal Med 2011;24(1):51–57. DOI: 10.3109/14767051003728229
  114. Salomon LJ, Bernard M, Amarsy R, et al. The impact of crown-rump length measurement error on combined Down syndrome screening: a simulation study. Ultrasound Obstet Gynecol 2009;33(5):506–511. DOI: 10.1002/uog.6371
  115. Nicolaides KH, Azar G, Byrne D, et al. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992;304(6831):867–869. DOI: 10.1136/bmj.304.6831.867
  116. Simpson JM, Sharland GK. Nuchal translucency and congenital heart defects: heart failure or not? Ultrasound Obstet Gynecol 2000;16(1):30–36. DOI: 10.1046/j.1469-0705.2000.00158.x
  117. Rizzo G, Muscatello A, Angelini E, et al. Abnormal cardiac function in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 2003;21(6):539–542. DOI: 10.1002/uog.137
  118. Hyett JA, Brizot ML, von Kaisenberg CS, et al. Cardiac gene expression of atrial natriuretic peptide and brain natriuretic peptide in trisomic fetuses. Obstet Gynecol 1996;87(4):506–510. DOI: 10.1016/0029-7844(95)00486-6
  119. Tsuchimochi H, Kurimoto F, Leki K, et al. Atrial natriuretic peptide distribution in fetal and failed adult human hearts. Circulation 1988;78(4):920–927. DOI: 10.1161/01.cir.78.4.920
  120. von Kaisenberg CS, Krenn V, Ludwig M, et al. Morphological classification of nuchal skin in fetuses with trisomy 21, 18 and 13 at 12–18 weeks and in a trisomy 16 mouse. Anat Embryol (Berl) 1998;197(2):105–124. DOI: 10.1007/s004290050123
  121. von Kaisenberg CS, Brand-Saberi B, Christ B, et al. Collagen type VI gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol 1998;91(3):319–323. DOI: 10.1016/s0029-7844(97)00697-2
  122. Böhlandt S, von Kaisenberg CS, Wewetzer K, et al. Hyaluronan in the nuchal skin of chromosomally abnormal fetuses. Hum Reprod 2000;15(5):1155–1158. DOI: 10.1093/humrep/15.5.1155
  123. Chitayat D, Kalousek DK, Bamforth JS. Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet 1989;33(3):352–356. DOI: 10.1002/ajmg.1320330313
  124. von Kaisenberg CS, Nicolaides KH, Brand-Siberi B. Lymphatic vessel hypoplasia in fetuses with Turner syndrome. Hum Reprod 1999;14(3):823–826. DOI: 10.1093/humrep/14.3.823
  125. Nicolaides KH, Rodeck CH, Lange I, et al. Fetoscopy in the assessment of unexplained fetal hydrops. Br J Obstet Gynaecol 1985;92(7):671–679. DOI: 10.1111/j.1471-0528.1985.tb01446.x
  126. Sohan K, Carroll S, Byrne D, et al. Parvovirus as a differential diagnosis of hydrops fetalis in the first trimester. Fetal Diagn Ther 2000;15(4):234–236. DOI: 10.1159/000021013
  127. Pandya PP, Snijders RJ, Johnson SP, et al. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol 1995;102(12):957–962. DOI: 10.1111/j.1471-0528.1995.tb10902.x
  128. Whitlow BJ, Chatzipapas IK, Economides DL. The effect of fetal neck position on nuchal translucency measurement at 10–14 weeks. Br J Obstet Gynaecol 1998;105:872–876. DOI: 10.1111/j.1471-0528.1998.tb10232.x
  129. Shaefer M, Laurichesse-Delmas H, Ville Y. The effect of nuchal cord on nuchal translucency measurement at 10–14 weeks. Ultrasound Obstet Gynecol 1998;11(4):271–273. DOI: 10.1046/j.1469-0705.1998.11040271.x
  130. Molina F, Avgidou K, Kagan K, et al. Cystic hygromas, nuchal edema, and nuchal translucency at 11–14 weeks of gestation. Obstet Gynecol 2006;107(3):678–683. DOI: 10.1097/01.AOG.0000201979.23031.32
  131. Malone FD, Ball RH, Nyberg DA, et al. First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet Gynecol 2005;106(2):288–294. DOI: 10.1097/01.AOG.0000173318.54978.1f
  132. Sonek J, Croom C, McKenna D, et al. Letter to the Editor. Obstet Gynecol 2006;107:424.
  133. Comstock CH, Malone FD, Ball RH, et al. Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening? Am J Obstet Gynecol 2006;195:843–847. DOI: 10.1016/j.ajog.2006.06.006
  134. Snijders RJ, Noble P, Sebire N, et al. 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(9125):343–346. DOI: 10.1016/s0140-6736(97)11280-6
  135. Hewitt BG, de Crespigny L, Sampson AJ, et al. Correlation between nuchal thickness and abnormal karyotype in first trimester fetuses. Med J Aust 1996;165(7):365–368. DOI: 10.5694/j.1326-5377.1996.tb125018.x
  136. Snijders RJ, Johnson S, Sebire NJ, et al. First-trimester ultrasound screening for chromosomal defects. Ultrasound Obstet Gynecol 1996;7:216–226. DOI: 10.1046/j.1469-0705.1996.07030216.x
  137. Pajkrt E, van Lith JM, Mol BW, et al. Screening for Down's syndrome by fetal nuchal translucency measurement in a general obstetric population. Ultrasound Obstet Gynecol 1998;12:163–169. DOI: 10.1046/j.1469-0705.1998.12030163.x
  138. Spencer K, Spencer DE, Power M, et al. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry and in a one-stop clinic: a review of three years prospective experience. Br J Obstet Gynaecol 2003;110(3):281–286. PMID: 12628268.
  139. Kagan KO, Wright D, Baker A, et al. 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(6):618–624. DOI: 10.1002/uog.5331
  140. Kagan KO, Etchegaray A, Zhou Y, et al. Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 2009;34(1):14–18. DOI: 10.1002/uog.6412
  141. Nicolaides KH, Spencer K, Avgidou K, et al. 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(3):221–226. DOI: 10.1002/uog.1860
  142. Avgidou K, Papageorghiou A, Bindra R, et al. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies. Am J Obstet Gynecol 2005;192(6):1761–1767. DOI: 10.1016/j.ajog.2005.03.021
  143. Kagan KO, Anderson JM, Anwandter G, et al. Screening for triploidy by the risk algorithms for trisomies 21, 18 and 13 at 11–13 weeks and 6 days of gestation. Prenat Diagn 2008;28(13):1209–1213. DOI: 10.1002/pd.2149
  144. Kagan KO, Wright D, Maiz N, et al. Screening for trisomy 18 by maternal age, fetal nuchal translucency, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2008;32(4):488–492. DOI: 10.1002/uog.6123
  145. Farkas LG, Katic MJ, Forrest CR, et al. Surface anatomy of the face in Down's syndrome: linear and angular measurements in the craniofacial regions. J Craniofac Surg 2001;12(4):373–379. DOI: 10.1097/00001665-200107000-00011
  146. Keeling JW, Hansen BF, Kjaer I. Pattern of malformation in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet 1997;68(4):466–471. PMID: 9021023.
  147. Stempfle N, Huten Y, Fredouille C, et al. Skeletal abnormalities in fetuses with Down's syndrome: a radiologic postmortem study. Pediatr Radiol 1999;29:682–688. DOI: 10.1007/s002470050675
  148. Tuxen A, Keeling JW, Reintoft I, et al. A histological and radiological investigation of the nasal bone in fetuses with Down syndrome. Ultrasound Obstet Gynecol 2003;22(1):22–26. DOI: 10.1002/uog.152
  149. Minderer S, Gloning KP, Henrich W, et al. The nasal bone in fetuses with trisomy 21: sonographic versus pathomorphological findings. Ultrasound Obstet Gynecol 2003;22(1):16–21. DOI: 10.1002/uog.160
  150. Sonek J, Cicero S, Neiger R, et al. Nasal bone assessment in prenatal screening for trisomy 21. Am J Obstet Gynecol 2006;195:1219–1230. DOI: 10.1016/j.ajog.2005.11.042
  151. Sonek J, Nicolaides K. Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndrome. Am J Obstet Gynecol 2002;186(1):139–141. DOI: 10.1067/mob.2002.119082
  152. Cicero S, Curcio P, Papageorghiou A, et al. Absence of nasal bone in fetuses with Trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001;358(9294):1665–1667. DOI: 10.1016/S0140-6736(01)06709-5
  153. Otano L, Aiello H, Igarzabal L, et al. Association
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.