Increased nuchal translucency in euploid fetuses - What should we be telling the parents?

Prenatal Diagnosis

Volumn 30, Issue 2, 2010, Pages 93-102

  Bilardo, C M ^a   Timmerman, E ^a   Pajkrt, E ^a   Van Maarle, M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Counseling; Genetic syndromes; Neurodevelopmental delays; Normal karyotype; Nuchal translucency; Structural anomalies

Indexed keywords

MARKER;

ACROCEPHALOSYNDACTYLY; ADVERSE OUTCOME; ANDROGEN INSENSITIVITY SYNDROME; ANEUPLOIDY; ARTHROGRYPOSIS; CHOLESTASIS; CHONDRODYSPLASIA; CHROMOSOME 8; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; DYSOSTOSIS; DYSPLASIA; ECHOCARDIOGRAPHY; ECTRODACTYLY; ELLIS VAN CREVELD SYNDROME; FETUS DEATH; FETUS HEART; FIRST TRIMESTER PREGNANCY; FRYNS SYNDROME; GENETIC DISORDER; HUMAN; INFANT; INTRAUTERINE CONTRACEPTIVE DEVICE; KARYOTYPE; KIDNEY DYSFUNCTION; MARKER CHROMOSOME; NERVE CELL DIFFERENTIATION; NUCHAL TRANSLUCENCY MEASUREMENT; OSTEOPENIA; PALLISTER KILLIAN SYNDROME; PARENT; PARENT COUNSELING; POLYDACTYLY; PREGNANCY OUTCOME; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE; REVIEW; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONTANEOUS ABORTION; THANATOPHORIC DWARFISM; THROMBOCYTOPENIA; TRISOMY; ULTRASOUND; WALKER WARBURG SYNDROME; WEBBED NECK;

ANEUPLOIDY; FEMALE; FETAL DISEASES; GENETIC COUNSELING; GESTATIONAL AGE; HUMANS; KARYOTYPING; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY OUTCOME;

EID: 75649104945     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2396     Document Type: Review

References (132)

1. Abad DE, Gabarre JA, Izquierdo AM, Lopez-Sanchez C, Garcia-Martinez V, Izquierdo AG. 2006. Pallister-Killian syndrome presenting with a complex congenital heart defect and increased nuchal translucency. J Ultrasound Med 25(11): 1475-1480.
2. Adekunle O, Gopee A, el Sayed M, Thilaganathan B. 1999. Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down's syndrome in an unselected antenatal population. Br J Radiol 72: 457-460.
3. Aleem S, Howarth ES. 2005. Apert syndrome associated with increased fetal nuchal translucency. Prenat Diagn 25(11): 1066-1067.
4. Alfirevic Z. 2008. DISQ 8: Management of patients with an increased first-trimester Down syndrome screening risk and normal fetal karyotype. Ultrasound Obstet Gynecol 31(2): 232.
5. Allan LD. 2006. The mystery of nuchal translucency. Cardiol Young 16(1): 11-17.
6. Atzei A, Gajewska K, Huggon IC, Allan L, Nicolaides KH. 2005. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol 26(2): 154-157.
7. Avgidou K, Papageorghiou A, Bindra R, Spencer K, Nicolaides KH. 2005. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies. Am J Obstet Gynecol 192(6): 1761-1767.
8. Bahado-Singh RO, Wapner R, Thom E, et al. 2005. Elevated first-trimester nuchal translucency increases the risk of congenital heart defects. Am J Obstet Gynecol 192(5): 1357-1361.
9. Becker R, Wegner RD. 2006. Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan. Ultrasound Obstet Gynecol 27(6): 613-618.
10. Bekker MN. 2007. A normal 20-week scan of a euploid fetus with a history of first-trimester increased nuchal translucency: caution or reassurance? Ultrasound Obstet Gynecol 30(1): 8-10.
11. Bellini C, Rutigliani M, Boccardo FM, et al. 2009. Nuchal translucency and lymphatic system maldevelopment. J Perinat Med 37(6): 673-676.
12. Bijlsma EK, Knegt AC, Bilardo CM, Goodman FR. 2005. Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. Prenat Diagn 25(1): 39-44.
13. Bilardo CM. 2001. Increased nuchal translucency and normal karyotype: coping with uncertainty. Ultrasound Obstet Gynecol 17(2): 99-101.
14. Bilardo CM, Müller MA, Pajkrt E. 2001. Outcome of fetuses with increased nuchal translucency. Curr Opin Obstet Gynecol 13(2): 169-174.
15. Bilardo CM, Müller MA, Pajkrt E, Clur SA, van Zalen MM, Bijlsma EK. 2007. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol 30(1): 11-18.
16. Bilardo CM, Müller MA, Zikulnig L, Schipper M, Hecher K. 2001. Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: relationship with nuchal translucency measurement and fetal outcome. Ultrasound Obstet Gynecol 17(4): 288-294.
17. Bilardo CM, Pajkrt E, de Graaf I, Mol BW, Bleker OP. 1998. Outcome of fetuses with enlarged nuchal translucency and normal karyotype. Ultrasound Obstet Gynecol 11(6): 401-406.
18. Blin G, Rabbe A, Ansquer Y, Meghdiche S, Floch-Tudal C, Mandelbrot L. 2005. First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. Ultrasound Obstet Gynecol 26(3): 297-299.
19. Brady AF, Pandya PP, Yuksel B, Greenough A, Patton MA, Nicolaides KH. 1998. Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation. J Med Genet 35: 222-224.
20. Brisset S, Kasakyan S, L'Hermine AC, et al. 2006. De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency. Prenat Diagn 26(3): 206-213.
21. Bronshtein M, Zimmer EZ, Blazer S. 2008. The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency. Prenat Diagn 28(11): 1037-1041.
22. Chen CP, Chern SR, Chang TY, et al. 2005. Prenatal diagnosis of de novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency. Prenat Diagn 25(5): 383-389.
23. Chen M, Lee CP, Lam YH, et al. 2008. Comparison of nuchal and detailed morphology ultrasound examinations in early pregnancy for fetal structural abnormality screening: a randomized controlled trial. Ultrasound Obstet Gynecol 31(2): 136-146.
24. Cheng CC, Bahado-Singh RO, Chen SC, Tsai MS. 2004. Pregnancy outcomes with increased nuchal translucency after routine Down syndrome screening. Int J Gynaecol Obstet 84: 5-9.
25. Cheng PJ, Chang SD, Shaw SW, Soong YK. 2005. Nuchal translucency thickness in fetuses with chromosomal translocation at 11-12 weeks of gestation. Obstet Gynecol 105(5): 1058-1062.
26. Chervenak FA, McCullough LB, Sharma G, Davis J, Gross S. 2008. Enhancing patient autonomy with risk assessment and invasive diagnosis: an ethical solution to a clinical challenge. Am J Obstet Gynecol 199(1): 19-14.
27. Chitty LS, Tan AW, Nesbit DL, Hall CM, Rodeck CH. 2006. Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia-a report of six pregnancies. Prenat Diagn 26(9): 861-865.
28. Clur SA, Mathijssen IB, Pajkrt E, et al. 2008. Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre. Prenat Diagn 28(4): 347-354.
29. Colombani M, Laurent N, Le MM, et al. 2006. A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. Prenat Diagn 26(12): 1151-1155.
30. D'Alton ME, Cleary-Goldman J, Lambert-Messerlian G, et al. 2009. Maintaining quality assurance for sonographic nuchal translucency measurement: lessons from the FASTER Trial. Ultrasound Obstet Gynecol 33(2): 142-146.
31. Dane B, Dane C, Sivri D, Kiray M, Cetin A, Yayla M. 2007. Ultrasound screening for fetal major abnormalities at 11-14 weeks. Acta Obstet Gynecol Scand 86(6): 666-670.
32. Daskalakis G, Souka AP, Kavalakis I, et al. 2006. Short-ribpolydactyly syndrome presenting with increased nuchal translucency in a high-risk family. Fetal Diagn.Ther. 21(5): 401-403.
33. David AL, Turnbull C, Scott R, et al. 2007. Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat.Diagn. 27(7): 629-632.
34. De Pater JM, Nikkels PG, Poot M, et al. 2005. Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q. Pediatr.Dev.Pathol. 8(4): 497-503.
35. De Biasio P, Ichim IB, Scarso E, Baldi M, Barban A, Venturini PL. 2005. Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester. Prenat.Diagn. 25(5): 426-428.
36. De Pater J, Van dS-B, Prins M, Derks J, Albrechts J, Engelen J. 2006. Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH. Eur.J.Med.Genet. 49(4): 306-312.
37. De Vreede I, Bilardo CM, van Rijn RR, Clur SA, Heij HA. 2008. Intrapericardial extralobar pulmonary sequestration presenting as a prenatal intrathoracic mass. Pediatr.Cardiol. 29(5): 980-982.
38. Donnenfeld AE, Cutillo D, Horwitz J, Knops J. 2006. Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency. Am.J.Obstet.Gynecol. 194(2): 508-511.
39. Evans MI, Van DH, Nicolaides KH. 2007. Nuchal translucency measurements for first-trimester screening: the 'price' of inaccuracy. Fetal Diagn.Ther. 22(6): 401-404.
40. Faiola S, Tsoi E, Huggon IC, Allan LD, Nicolaides KH. 2005. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Ultrasound Obstet.Gynecol. 26(1): 22-27.
41. Farina A, Volinia S, Arcelli D, et al. 2006. Evidence of genetic underexpression in chorionic villi samples of euploid fetuses with increased nuchal translucency at 10-11 weeks' gestation. Prenat Diagn 26(2): 128-133.
42. Favre R, Moutel G, Duchange N, et al. 2008. What about informed consent in first-trimester ultrasound screening for Down syndrome? Fetal Diagn.Ther. 23(3): 173-184.
43. Favre R, Guige V, Weingertner AS, et al. 2009. Is the non-respect of ethical principles by health professionals during first-trimester sonographic Down syndrome screening damaging to patient autonomy? Ultrasound Obstet Gynecol. 34(1): 25-32.
44. Galindo A, Comas C, Martinez JM, et al. 2003. Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation. J.Matern.Fetal Neonatal Med. 13(3): 163-170.
45. Ghi T, Huggon IC, Zosmer N, Nicolaides KH. 2001. Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasound Obstet.Gynecol. 18(6): 610-614.
46. Gundogan M, Fong K, Keating S, Pierre-Louis J, Chitayat D. 2006. First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn.Ther. 21(5): 466-470.
47. Haak MC, van Vugt JM. 2003. Pathophysiology of increased nuchal translucency: a review of the literature. Hum.Reprod.Update. 9(2): 175-184.
48. Hindryckx A, De CL, Van EH, Fryns JP, Moerman P, Devlieger R. 2008. First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele. Prenat.Diagn. 28(5): 445-446.
49. Hippala A, Eronen M, Taipale P, Salonen R, Hiilesmaa V. 2001. Fetal nuchal translucency and normal chromosomes: a longterm follow-up study. Ultrasound Obstet Gynecol 18: 18-22.
50. Hulsbergen MH, Van Calenbergh SG, Fryns JP. 2007. Abnormal first trimester screen in partial deletion of chromosome 6p21: a case-report. Genet.Couns. 18(2): 243-245.
51. Hyett J. 2004. Does nuchal translucency have a role in fetal cardiac screening? Prenat.Diagn. 24(13): 1130-1135.
52. Hyett J, Noble P, Sebire NJ, Snijders R, Nicolaides KH. 1997a. Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet. Gynecol. 9(5): 310-313.
53. Hyett J, Perdu M, Sharland G, Snijders R, Nicolaides KH. 1999. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 318(7176): 81-85.
54. Hyett JA, Perdu M, Sharland GK, Snijders RS, Nicolaides KH. 1997b. Increased nuchal translucency at 10-14 weeks of gestation as a marker for major cardiac defects. Ultrasound Obstet.Gynecol. 10(4): 242-246.
55. Kagan KO, Avgidou K, Molina FS, Gajewska K, Nicolaides KH. 2006. Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet.Gynecol. 107(1): 6-10.
56. Kasakyan S, Lohmann L, Aboura A, et al. 2008. De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array -CGH. Mol.Cytogenet. 1(1): 27.
57. Kempe A, Rosing B, Berg C, et al. 2007. First-trimester treatment of fetal anemia secondary to parvovirus B19 infection. Ultrasound Obstet.Gynecol. 29(2): 226-228.
58. Kim MH, Park SY, Kim MY, Lee BY, Lee MH, Ryu HM. 2008. Prenatal diagnosis of Pallister-Killian syndrome in two fetuses with increased nuchal translucency. Prenat.Diagn. 28(5): 454-456.
59. Kleinveld JH, Ten Kate LP, van den BM, van Vugt JM, Timmermans DR. 2009. Does informed decision making influence psychological outcomes after receiving a positive screening outcome? Prenat.Diagn. 29(3): 271-273.
60. Korenromp MJ, Christiaens GC, van den BJ, et al. 2005. Longterm psychological consequences of pregnancy termination for fetal abnormality: a cross-sectional study. Prenat.Diagn. 25(3): 253-260.
61. Lautrup CK, Kjaergaard S, Brondum-Nielsen K, et al. 2008. Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype. Acta Obstet.Gynecol.Scand. 87(11): 1252-1255.
62. Law LW, Lau TK, Fung TY, Leung TY, Wang CC, Choy KW. 2008. De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency. BJOG 116(2): 339-343.
63. Layng J. 1998. Screening for nuchal translucency. Counselling should be considered an integral part of screening programmes. BMJ 317(7160): 749.
64. Lee K, Williams B, Roza K, et al. 2008. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin.Genet 75(2): 190-194.
65. Lespinasse J, Testard H, Nugues F, et al. 2004. A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES). Ann.Genet. 47(4): 405-417.
66. Liberati M, Melchiorre K, D'Emilio I, et al. 2008. Fetal facial profile in Pallister-Killian syndrome. Fetal Diagn.Ther. 23(1): 15-17.
67. Lombardi CM, Bellotti M, Fesslova V, Cappellini A. 2007. Fetal echocardiography at the time of the nuchal translucency scan. Ultrasound Obstet.Gynecol. 29(3): 249-257.
68. Lopes LM, Brizot ML, Lopes MA, Ayello VD, Schultz R, Zugaib M. 2003. Structural and functional cardiac abnormalities identified prior to 16 weeks' gestation in fetuses with increased nuchal translucency. Ultrasound Obstet.Gynecol. 22(5): 470-478.
69. Maiz N, Plasencia W, Dagklis T, Faros E, Nicolaides K. 2008a. Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness. Ultrasound Obstet.Gynecol. 31(3): 256-260.
70. Maiz N, Valencia C, Emmanuel EE, Staboulidou I, Nicolaides KH. 2008b. Screening for adverse pregnancy outcome by ductus venosus Doppler at 11-13 + 6 weeks of gestation. Obstet.Gynecol. 112(3): 598-605.
71. Makrydimas G, Sotiriadis A, Huggon IC, et al. 2005. Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers. Am.J.Obstet.Gynecol. 192(1): 89-95.
72. Makrydimas G, Sotiriadis A, Ioannidis JP. 2003. Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis. Am.J.Obstet.Gynecol. 189(5): 1330-1335.
73. Malone FD, Ball RH, Nyberg DA, et al. 2005a. First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet.Gynecol. 106(2): 288-294.
74. Malone FD, Canick JA, Ball RH, et al. 2005b. First-trimester or second-trimester screening, or both, for Down's syndrome. N.Engl.J.Med. 353(19): 2001-2011.
75. Mangione R, Guyon F, Taine L, Wen ZQ, Roux D, Vergnaud A, Maugey-Laulom B, Horovitz J, Saura R. 2001. Pregnancy outcome and prognosis in fetuses with increased first-trimester nuchal translucency. Fetal Diagn Ther. 16: 360-363.
76. Markenson G, Correia LA, Cohn G, Bayer L, Kanaan C. 2000. Parvoviral infection associated with increased nuchal translucency: a case report. J.Perinatol. 20(2): 129-131.
77. Maymon R, Herman A. 2004a. The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency. Clin.Genet. 66(5): 426-436.
78. Maymon R, Jauniaux E, Cohen O, Dreazen E, Weinraub Z, Herman A. 2000. Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency. Hum Reprod 15: 2023-2027.
79. Maymon R, Tercanli S, Dreazen E, Sartorius G, Holzgreve W, Herman A. 2004b. Comparison of pregnancy outcome of euploid fetuses with increased nuchal translucency (NT) expressed in NT MoM or delta-NT. Ultrasound Obstet.Gynecol. 23(5): 477-481.
80. Maymon R, Weinraub Z, Herman A. 2005. Pregnancy outcome of euploid fetuses with increased nuchal translucency: how bad is the news? J.Perinat.Med. 33(3): 191-198.
81. Maymon R, Zimerman AL, Weinraub Z, Herman A, Cuckle H. 2008. Correlation between nuchal translucency and nuchal skinfold measurements in Down syndrome and unaffected fetuses. Ultrasound Obstet.Gynecol 32(4): 501-505.
82. McAuliffe FM, Hornberger LK, Winsor S, Chitayat D, Chong K, Johnson JA. 2004. Fetal cardiac defects and increased nuchal translucency thickness: a prospective study. Am.J.Obstet.Gynecol. 191(4): 1486-1490.
83. Michailidis GD, Economides DL. 2001. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet.Gynecol. 17(2): 102-105.
84. Molina FS, Avgidou K, Kagan KO, Poggi S, Nicolaides KH. 2006. Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation. Obstet.Gynecol. 107(3): 678-683.
85. Müller MA, Bleker OP, Bonsel GJ, Bilardo CM. 2006. Women's opinions on the offer and use of nuchal translucency screening for Down syndrome. Prenat.Diagn. 26(2): 105-111.
86. Müller MA, Clur SA, Timmerman E, Bilardo CM. 2007. Nuchal translucency measurement and congenital heart defects: modest association in low-risk pregnancies. Prenat.Diagn. 27(2): 164-169.
87. Müller MA, Pajkrt E, Bleker OP, Bonsel GJ, Bilardo CM. 2004. Disappearance of enlarged nuchal translucency before 14 weeks' gestation: relationship with chromosomal abnormalities and pregnancy outcome. Ultrasound Obstet.Gynecol. 24(2): 169-174.
88. Nakamura T, Gulick J, Colbert MC, Robbins J. 2009. Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development. Proc Natl Acad Sci USA. 106(27): 11270-11275.
89. Ngo C, Viot G, AubryMC, et al. 2007. First-trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness. Ultrasound Obstet.Gynecol. 30(2): 221-226.
90. Oh C, Harman C, Baschat AA. 2007. Abnormal first-trimester ductus venosus blood flow: a risk factor for adverse outcome in fetuses with normal nuchal translucency. Ultrasound Obstet.Gynecol. 30(2): 192-196.
91. Pajkrt E, Mol BW, Bleker OP, Bilardo CM. 1999. Pregnancy outcome and nuchal translucency measurements in fetuses with a normal karyotype. Prenat.Diagn. 19(12): 1104-1108.
92. Rauch A, Dorr HG. 2007. Chromosome 5q subtelomeric deletion syndrome. Am.J.Med.Genet.C.Semin.Med.Genet. 145C(4): 372-376.
93. Rosing B, Kempe A, Berg C, et al. 2008. Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. Ultrasound Obstet.Gynecol. 31(4): 457-460.
94. Rusnak AJ, Hadfield MI, Chudley AE, Marles SL, Reid GJ, Chodirker BN. 2008. Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel Syndrome. Fetal Diagn.Ther. 24(4): 395-399.
95. Sanseverino MT, de Souza CF, Gissen P, Sordi AO, Magalhaes JA, Schuler-Faccini L. 2006. Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. Ultrasound Obstet.Gynecol. 28(2): 233-234.
96. Scott F, Evans J, McLennan A. 2009. Perinatal outcome in fetuses with extremely large nuchal translucency measurement. Aust N Z J Obstet Gynaecol. 49(3): 254-257.
97. Sebire NJ, Bianco D, Snijders RJ, Zuckerman M, Nicolaides KH. 1997. Increased fetal nuchal translucency thickness at 10-14 weeks: is screening for maternal-fetal infection necessary? Br.J.Obstet. Gynaecol. 104(2): 212-215.
98. Senat MV, Bussieres L, Couderc S, et al. 2007. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. Am.J.Obstet.Gynecol. 196(1): 53-56.
99. Senat MV, De KB, Audibert F, Montcharmont G, Frydman R, Ville Y. 2002. Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype. Prenat.Diagn. 22(5): 345-349.
100. Sepulveda W, Wong AE, Casasbuenas A, Solari A, Alcalde JL. 2008. Congenital diaphragmatic hernia in a first-trimester ultrasound aneuploidy screening program. Prenat.Diagn. 28(6): 531-534.
101. Seror V. 2008. Fitting observed and theoretical choices-women's choices about prenatal diagnosis of Down syndrome. Health Econ. 17(5): 557-577.
102. Simpson JM, Sharland GK. 2000. Nuchal translucency and congenital heart defects: heart failure or not? Ultrasound Obstet.Gynecol. 16(1): 30-36.
103. Simpson LL, Malone FD, Bianchi DW, et al. 2007. Nuchal translucency and the risk of congenital heart disease. Obstet.Gynecol. 109(2 Pt 1): 376-383.
104. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. 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. Fetal Medicine Foundation First Trimester Screening Group. Lancet 352(9125): 343-346.
105. Statham H, Solomou W, Chitty L. 2000. Prenatal diagnosis of fetal abnormality: psychological effects on women in low-risk pregnancies. Baillieres Best Pract Res Clin Obstet Gynaecol. 14(4): 731-747.
106. Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH. 2001. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet.Gynecol. 18(1): 9-17.
107. Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH. 1998. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet.Gynecol. 11(6): 391-400.
108. Souka AP, von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. 2005. Increased nuchal translucency with normal karyotype. Am.J.Obstet.Gynecol. 192(4): 1005-1021.
109. Stankiewicz P, Kuechler A, Eller CD, et al. 2006. Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am.J.Med.Genet.A 140(5): 442-452.
110. Timmerman E, Pajkrt E, van Zalen-Sprock MM, Robles de Medina PG, Bilardo CM. 2008. OP09.13 The impact of additional anomalies at the 11-14 weeks scan on the prediction of fetal outcome in fetuses with enlarged nuchal translucency. 18th World Congress on Ultrasound in Obstetrics and Gynecology, Chicago Aug 2008. Abstract in Ultrasound Obstet Gynecol 32: 340.
111. Timmerman E, Pajkrt E, Bilardo CM. 2009. Male gender as a favorable prognostic factor in pregnancies with enlarged nuchal translucency. Ultrasound Obstet Gynecol 34(4): 373-378.
112. Timor-Tritsch IE, Fuchs KM, Monteagudo A, D'alton ME. 2009. Performing a fetal anatomy scan at the time of first-trimester screening. Obstet Gynecol. 113(2 Pt 1): 402-407.
113. Tonni G, Azzoni D, Ambrosetti F, de FC, Ventura A. 2007. Cerebrofronto-facial syndrome (Dandy-Walker Variant and frontofacial dysmorphisms): report of the first case identified by increased nuchal translucency beyond 13(+6) weeks. Congenit.Anom.(Kyoto) 47(2): 68-71.
114. Tonni G, Ventura A, de FC. 2005. First trimester increased nuchal translucency associated with fetal achondroplasia. Am.J.Perinatol. 22(3): 145-148.
115. Van Huizen ME, Pighetti M, Bijlsma EK, Knegt AC, Bilardo CM. 2005. Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents. Ultrasound Obstet.Gynecol. 26(7): 793-794.
116. Van den Burgt I. 2007. Noonan syndrome. Orphanet J.Rare.Dis. 2: 4.
117. Van Splunder P, Stijnen T, Wladimiroff JW. 1996. Fetal atrioventricular flow-velocity waveforms and their relation to arterial and venous flow-velocity waveforms at 8 to 20 weeks of gestation. Circulation 94(6): 1372-1378.
118. Van Vugt JMG, Tinnemans BW, Van Zalen-Sproch RM. 1998. Outcome and early childhood follow-up of chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks'gestation. Ultrasound Obstet Gynecol 11: 407-409.
119. Venkat-Raman N, Sebire NJ, Murphy KW, Carvalho JS, Hall CM. 2005. Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome). Ultrasound Obstet.Gynecol. 25(4): 412-414.
120. Ville Y. 2001. Nuchal translucency in the first trimester of pregnancy: ten years on and still a pain in the neck? Ultrasound Obstet.Gynecol. 18(1): 5-8.
121. Vogel M, Sharland GK, McElhinney DB, et al. 2009. Prevalence of increased nuchal translucency in fetuses with congenital cardiac disease and a normal karyotype. Cardiol Young. 19(5): 441-445.
122. Wald NJ, Morris JK, Walker K, Simpson JM. 2008. Prenatal screening for serious congenital heart defects using nuchal translucency: a meta-analysis. Prenat.Diagn. 28(12): 1094-1104.
123. Wax JR, Carpenter M, Chard R, Cartin A, Pinette MG, Blackstone J. 2008. Prenatal sonographic features of trisomy 1q. J.Clin.Ultrasound 36(4): 231-236.
124. Weinans MJ, Kooij L, Müller MA, Bilardo KM, van Lith JM, Tymstra T. 2004. A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester: a pilot study. Prenat.Diagn. 24(5): 347-351.
125. Weiner Z, Weizman B, Beloosesky R, Goldstein I, Bombard A. 2008. Fetal cardiac scanning performed immediately following an abnormal nuchal translucency examination. Prenat.Diagn 28(10): 934-938.
126. Westin M, Saltvedt S, Almstrom H, Grunewald C, Valentin L. 2007. By how much does increased nuchal translucency increase the risk of adverse pregnancy outcome in chromosomally normal fetuses? A study of 16,260 fetuses derived from an unselected pregnant population. Ultrasound Obstet.Gynecol. 29(2): 150-158.
127. Westin M, Saltvedt S, Bergman G, Almstrom H, Grunewald C, Valentin L. 2006. Is measurement of nuchal translucency thickness a useful screening tool for heart defects? A study of 16,383 fetuses. Ultrasound Obstet.Gynecol. 27(6): 632-639.
128. Witters I, Claerhout P, Fryns JP. 2005. Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. Ultrasound Obstet.Gynecol. 26(5): 581-582.
129. Witters I, Denayer E, Brems H, Fryns JP, Legius E. 2008. The cardiofaciocutaneous syndrome: prenatal findings in two patients. Prenat.Diagn. 28(1): 53-55.
130. Wong HS, Kidd A, Zuccollo J, et al. 2008. A case of thanatophoric dysplasia: The early prenatal 2d and 3d sonographic findings and molecular confirmation of diagnosis. Fetal Diagn.Ther. 24(1): 71-73.
131. Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH. 2008. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet.Gynecol. 31(4): 376-383.
132. Yalinkaya A, Yayla M, Erdemoglu M. 2007. Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS). Prenat.Diagn. 27(9): 856-857.