First-Trimester Screening

Radiologic Clinics of North America

Volumn 44, Issue 6, 2006, Pages 837-861

  Nyberg, David A ^a   Hyett, Jon ^b   Johnson, Jo Ann ^c   Souter, Vivienne ^d  

^a Fetal and Women's Center of Arizona   (United States)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c Department of Obstetrics and Gynecology ^*  (Canada)

^d Good Samaritan Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CHORIONIC GONADOTROPIN; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ABDOMINAL WALL DEFECT; AGENESIS; ANEMIA; ANEUPLOIDY; BIOCHEMISTRY; BIRTH DEFECT; BONE MALFORMATION; CENTRAL NERVOUS SYSTEM MALFORMATION; CHROMOSOME ABERRATION; CLINICAL FEATURE; CLINICAL TRIAL; CONGENITAL HEART MALFORMATION; CROWN RUMP LENGTH; DOWN SYNDROME; FACE MALFORMATION; FETUS ANEMIA; FETUS DEVELOPMENT; FETUS DISEASE; FETUS ECHOGRAPHY; FETUS ELECTROCARDIOGRAPHY; FIRST TRIMESTER PREGNANCY; GASTROINTESTINAL MALFORMATION; GENETIC SCREENING; GESTATIONAL AGE; HIGH RISK PREGNANCY; HUMAN; HYPOPLASIA; LUNG MALFORMATION; METABOLIC DISORDER; MULTIPLE PREGNANCY; NASAL BONE AGENESIS; NASAL BONE HYPOPLASIA; NEUROMUSCULAR DISEASE; NUCHAL TRANSLUCENCY MEASUREMENT; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SCREENING; SCREENING TEST; SECOND TRIMESTER PREGNANCY; SKELETON MALFORMATION; SPINA BIFIDA; SURVIVAL; TRANSVAGINAL ECHOGRAPHY; TRISOMY; TRISOMY 10; TRISOMY 18; TRISOMY 21; TURNER SYNDROME; TWIN PREGNANCY;

FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; ULTRASONOGRAPHY, PRENATAL;

EID: 37849185991     PISSN: 00338389     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rcl.2006.10.017     Document Type: Review

References (176)

1. Harper P.S. Practical genetic counselling. 5th edition (1998), Butterworth Heinemann, Boston p. 56-70.
2. Langdon Down J. Observations on an ethnic classification of idiots. Clin Lectures and Reports, London Hospital 3 (1866) 259-262
3. Phillips H.E., and McGahan J.P. Intrauterine fetal cystic hygromas: sonographic detection. AJR Am J Roentgenol 136 4 (1981) 799-802
4. Toftager-Larsen K., Benzie R.J., Doran T.A., et al. Alpha-fetoprotein and ultrasound scanning in the prenatal diagnosis of Turner's syndrome. Prenat Diagn 3 1 (1983) 35-40
5. Chervenak F.A., Isaacson G., Blakemore K.J., et al. Fetal cystic hygroma. Cause and natural history. N Engl J Med 309 14 (1983) 822-825
6. Newman D.E., and Cooperberg P.L. Genetics of sonographically detected intrauterine fetal cystic hygromas. J Can Assoc Radiol 35 1 (1984) 77-79
7. Brown B.S., and Thompson D.L. Ultrasonographic features of the fetal Turner syndrome. J Can Assoc Radiol 35 1 (1984) 40-46
8. Redford D.H., McNay M.B., Ferguson-Smith M.E., et al. Aneuploidy and cystic hygroma detectable by ultrasound. Prenat Diagn 4 5 (1984) 377-382
9. Marchese C., Savin E., Dragone E., et al. Cystic hygroma: prenatal diagnosis and genetic counselling. Prenat Diagn 5 3 (1985) 221-227
10. Garden A.S., Benzie R.J., Miskin M., et al. Fetal cystic hygroma colli: antenatal diagnosis, significance, and management. Am J Obstet Gynecol 154 2 (1986) 221-225
11. Brambati B., and Simoni G. Diagnosis of fetal trisomy 21 in first-trimester. Lancet 1 8324 (1983) 586
12. Gustavii B., and Edvall H. First-trimester diagnosis of cystic nuchal hygroma. Acta Obstet Gynecol Scand 4 (1984) 383-386
13. Reuss A., Pijpers L., Schampers P.T.F.N., et al. The importance of chorionic villus sampling after first-trimester diagnosis of cystic hygroma. Prenat Diagn 7 (1987) 299-301
14. Bronshtein M., Rottem S., Yoffe N., et al. First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: diverse prognosis of the septated from the nonseptated lesion. Am J Obstet Gynecol 161 1 (1988) 78-82
15. Benacerraf B.R., Barss V., and Laboda L.A. A sonographic sign for detection in the second-trimester of the fetus with Down's syndrome. Am J Obstet Gynecol 151 (1985) 1078-1079
16. Benacerraf B.R., Gelman R., and Frigoletto F.D. Sonographic identification of second-trimester fetuses with Down's syndrome. N Engl J Med 317 (1987) 1371-1376
17. Nicolaides K.H., Azar G., Byrne D., et al. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first-trimester of pregnancy. BMJ 304 6831 (1992) 867-869
18. Pandya P.P., Kondylios A., Hilbert L., et al. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 5 (1995) 15-19
19. Snijders R.J.M., 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 352 (1998) 343-346
20. Hyett J.A., Moscoso G., and Nicolaides K.H. Abnormalites of the heart and great arteries in first-trimester chromosomally abnormal fetuses. Am J Med Genet 69 (1997) 207-216
21. Hyett J.A., Perdu M., Sharland G.K., et al. Increased nuchal translucency at 10-14 weeks of gestation as a marker for major cardiac defects. Ultrasound Obstet Gynecol 10 (1997) 242-246
22. Carvalho J.S. The fetal heart or the lymphatic system or ...? The quest for the etiology of increased nuchal translucency. Ultrasound Obstet Gynecol 25 3 (2005) 215-220
23. Hyett J.A., Brizot M.L., von Kaisenberg C.S., et al. Cardiac gene expression of atrial natriuretic peptide and brain natriuretic peptide in trisomic fetuses. Obstet Gynecol 87 (1996) 506-510
24. Matias A., Gomes C., Flack N., et al. Screening for chromosomal abnormalities at 11-14 weeks: the role of ductus venosus blood flow. Ultrasound Obstet Gynecol 12 (1998) 380-384
25. Matias A., Huggon I., Areias J.C., et al. Cardiac defects in chromosomally normal fetuses with abnormal ductus venosus blood flow at 10-14 weeks. Ultrasound Obstet Gynecol 14 (1999) 307-310
26. Chitayat D., Kalousek D.K., and Bamforth J.S. Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet 33 (1989) 352-356
27. von Kaisenberg C.S., Nicolaides K.H., and Brand-Saberi B. Lymphatic vessel hypoplasia in fetuses with Turner syndrome. Hum Reprod 14 (1999) 823-826
28. Hyett J., Noble P., Sebire N.J., et al. Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 9 (1997) 310-313
29. von Kaisenberg C.S., Brand-Saberi B., Christ B., et al. Collagen Type VI gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol 91 (1998) 319-323
30. von Kaisenberg C.S., 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) 197 (1998) 105-124
31. Kornman L.H., Morssink L.P., Beekhuis J.R., et al. Nuchal translucency cannot be used as a screening test for chromosomal abnormalities in the first-trimester of pregnancy in a routine ultrasound practice. Prenat Diagn 16 (1996) 797-805
32. Bower S, Chitty L, Bewley S, et al. First-trimester nuchal translucency screening of the general population: data from three centres [abstract]. Presented at the 27th British Congress of Obstetrics and Gynaecology. Dublin, Ireland, Royal College of Obstetrics and Gynaecology; 1995.
33. Roberts L.J., Bewley S., Mackinson A.M., et al. First-trimester fetal nuchal translucency: problems with screening the general population 1. Br J Obstet Gynaecol 102 (1995) 381-385
34. Monni G., Ibba R.M., and Zoppi M.A. Antenatal screening for Down's syndrome. Lancet 352 (1998) 1631-1632
35. Braithwaite J.M., Kadir R.A., Pepera T.A., et al. Nuchal translucency measurements: training of potential examiners. Ultrasound Obstet Gynecol 8 (1996) 192-195
36. Pandya P.P., Altman D., Brizot M.L., et al. Repeatability of measurement of fetal nuchal translucency thickness. Ultrasound Obstet Gynecol 5 (1995) 334-337
37. Pandya P.P., Goldberg H., Walton B., et al. The implementation of first-trimester scanning at 10-13 weeks' gestation and the measurement of fetal nuchal translucency thickness in two maternity units. Ultrasound Obstet Gynecol 5 (1995) 20-25
38. Szabo J., Gellen J., and Szemere G. First-trimester ultrasound screening for fetal aneuploidies in women over 35 and under 35 years of age. Ultrasound Obstet Gynecol 5 (1995) 161-163
39. Taipale P., Hiilesmaa V., Salonen R., et al. Increased nuchal translucency as a marker for fetal chromosomal defects. N Engl J Med 337 (1997) 1654-1658
40. Hafner E., Schuchter K., Liebhart E., et al. Results of routine fetal nuchal translucency measurement at 10-13 weeks in 4233 unselected pregnant women. Prenat Diagn 18 (1998) 29-34
41. Pajkrt E., van Lith J.M.M., Mol B.W.J., et al. Screening for Down's syndrome by fetal nuchal translucency measurement in a general obstetric population. Ultrasound Obstet Gynecol 12 (1998) 163-169
42. Economides D.L., Whitlow B.J., Kadir R., et al. First-trimester sonographic detection of chromosomal abnormalities in an unselected population. Br J Obstet Gynaecol 105 (1998) 58-62
43. Zoppi M.A., Ibba R.M., Putzolu M., et al. Assessment of risk for chromosomal abnormalities at 10-14 weeks of gestation by nuchal translucency and maternal age in 5210 fetuses at a single centre. Fetal Diagn Ther 15 (2000) 170-173
44. Thilaganathan B., Sairam S., Michailidis G., et al. First-trimester nuchal translucency: effective routine screening for Down's syndrome. Br J Radiol 72 (1999) 946-948
45. Schwarzler P., Carvalho J.S., Senat M.V., 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 106 (1999) 1029-1034
46. Theodoropoulos P., Lolis D., Papageorgiou C., et al. Evaluation of first-trimester screening by fetal nuchal translucency and maternal age. Prenat Diagn 18 (1988) 133-137
47. 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 13 (1999) 231-237
48. Brizot M.L., Snijders R.J.M., Bersinger N.A., et al. Maternal serum pregnancy associated placental protein A and fetal nuchal translucency thickness for the prediction of fetal trisomies in early pregnancy. Obstet Gynecol 84 (1994) 918-922
49. Brizot M.L., Snijders R.J.M., Butler J., et al. Maternal serum hCG and fetal nuchal translucency thickness for the prediction of fetal trisomies in the first-trimester of pregnancy. Br J Obstet Gynaecol 102 (1995) 1227-1232
50. Malone F.D., Ball R.H., Nyberg D.A., et al., FASTER Trial Research Consortium. First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet Gynecol 106 2 (2005) 288-294
51. Bekker M.N., Haak M.C., Rekoert-Hollander M., et al. Increased nuchal translucency and distended jugular lymphatic sacs on first-trimester ultrasound. Ultrasound Obstet Gynecol 25 3 (2005) 239-245
52. Sharony R., Tepper R., and Fejgin M. Fetal lateral neck cysts: the significance of associated findings. Prenat Diagn 25 6 (2005) 507-510
53. Orlandi F., Damiani G., Hallahan T.W., et al. First-trimester screening for fetal aneuploidy: biochemistry and nuchal translucency. Ultrasound Obstet Gynecol 10 (1997) 381-386
54. Biagiotti R., Brizzi L., Periti E., et al. First-trimester screening for Down's syndrome using maternal serum PAPP-A and free beta-hCG in combination with fetal nuchal translucency thickness. Br J Obstet Gynaecol 105 (1998) 917-920
55. Benattar C., Audibert F., Taieb J., et al. Efficiency of ultrasound and biochemical markers for Down's syndrome risk screening. A prospective study. Fetal Diagn Ther 14 (1999) 112-117
56. De Biasio P., Siccardi M., Volpe G., et al. First-trimester screening for Down syndrome using nuchal translucency measurement with beta-hCG and PAPP-A between 10 and 13 weeks of pregnancy-the combination test. Prenat Diagn 19 (1999) 360-363
57. De Graaf I.M., Parkrt E., Bilardo C.M., et al. Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. Prenat Diagn 19 (1999) 458-462
58. Krantz D.A., Hallahan T.W., Orlandi F., et al. First-trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet Gynecol 96 (2000) 207-213
59. Nicolaides K.H. First-trimester screening for chromosomal abnormalities. Semin Perinatol 29 4 (2005) 190-194
60. Wapner R., Thom E., Simpson J.L., et al. First-trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. First-trimester screening for trisomies 21 and 18. N Engl J Med 349 15 (2003) 1405-1413
61. Malone F.D., Canick J.A., Ball R.H., et al., First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 353 19 (2005) 2001-2011
62. 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 358 (2001) 1665-1667
63. Cicero S., Rembouskos G., Vandecruys H., et al. Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11-14 week scan. Ultrasound Obstet Gynecol 23 (2004) 218-223
64. Prefumo F., Sethna F., Sairam S., et al. First-trimester ductus venosus, nasal bones, and Down syndrome in a high-risk population. Obstet Gynecol 105 6 (2005) 1348-1354
65. Otano L., Aiello H., Igarzabal L., et al. Association between first-trimester absence of fetal nasal bone on ultrasound and Down syndrome. Prenat Diagn 22 (2002) 930-932
66. Orlandi F., Bilardo C.M., Campogrande M., et al. Measurement of nasal bone length at 11-14 weeks of pregnancy and its potential role in Down syndrome risk assessment. Ultrasound Obstet Gynecol 22 (2003) 36-39
67. Viora E., Masturzo B., Errange G., et al. Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1906 fetuses. Prenat Diagn 23 (2003) 784-787
68. Zoppi M.A., Ibba R.M., Axiana C., et al. Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies. Prenat Diagn 23 (2003) 496-500
69. Nicolaides K.H. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 191 (2004) 45-67
70. Bekker M.N., Twisk J.W., and van Vugt J.M. Reproducibility of the fetal nasal bone length measurement. J Ultrasound Med 23 12 (2004) 1613-1618
71. Malone F.D., Ball R.H., Nyberg D.A., et al., FASTER Research Consortium. First-trimester nasal bone evaluation for aneuploidy in the general population. Obstet Gynecol 105 4 (2005) 901
72. Borrell A., Gonce A., Martinez J.M., et al. First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers. Prenat Diagn 25 10 (2005) 901-905
73. Faiola S., Tsoi E., Huggon I.C., et al. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Ultrasound Obstet Gynecol 26 1 (2005) 22-27
74. Nicolaides K.H., 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 25 3 (2005) 221-226
75. Wald N.J., Watt H.C., and Hackshaw A.K. Integrated screening for Down's syndrome based on tests performed during the first and second-trimesters. N Engl J Med 341 (1999) 461-467
76. Wald N.J., Rodeck C., Hackshaw A.K., et al. SURUSS in perspective. Semin Perinatol 29 4 (2005) 225-235
77. Copel J., and Bahado-Singh R.O. Prenatal screening for Down's syndrome-a search for the family's values. N Engl J Med 341 (1999) 521-522
78. Benn P., Wright D., and Cuckle H. Practical strategies in contingent sequential screening for Down syndrome. Prenat Diagn 25 8 (2005) 645-652
79. Wapner R.J. First-trimester screening: the BUN Study. Semin Perinatol 29 4 (2005) 236-239
80. Taipale P., Ammala M., Salonen R., et al. Two-stage ultrasonography in screening for fetal anomalies at 13-14 and 18-22 weeks of gestation. Acta Obstet Gynecol Scand 83 12 (2004) 1141-1146
81. Snijders R.J.M., and Nicolaides K.H. Assessment of risks. In: Snijders R.J.M., and Nicolaides K.H. (Eds). Ultrasound markers for fetal chromosomal defects (1996), Parthenon Publishing, Carnforth (UK) 63-120
82. Nyberg D.A., Luthy D.A., Resta R.G., et al. 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 Gynaecol 12 (1998) 8-14
83. Nyberg D.A., Souter V.L., El-Bastawissi A., et al. Isolated sonographic markers for detection of fetal Down syndrome in the second-trimester of pregnancy. J Ultrasound Med 20 10 (2001) 1053-1063
84. Malone F., Nyberg D.A., Vidaver J., et al. First and second trimester evaluation of risk: The role of second trimester genetic sonography. Am J Obstet Gynecol 191 6 (2004) S3
85. Cheng P.J., Chang S.D., Shaw S.W., et al. Nuchal translucency thickness in fetuses with chromosomal translocation at 11-12 weeks of gestation. Obstet Gynecol 105 (2005) 1058-1062
86. Tul N., Spencer K., Noble P., et al. Screening for trisomy 18 by fetal nuchal translucency and maternal serum free beta hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn 19 (1999) 1035-1042
87. Spencer K., Ong C., Skentou H., et al. Screening for trisomy 13 by fetal nuchal translucency and maternal serum free beta hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn 20 (2000) 411-416
88. Spencer K., Tul N., and Nicolaides K.H. Maternal serum free beta hCG and PAPP-A in fetal sex chromsome defects in the first-trimester. Prenat Diagn 20 (2000) 390-394
89. Spencer K., Liao A., Skentou H., et al. Screening for triploidy by fetal nuchal translucency and maternal serum free β-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn 20 (2000) 495-499
90. Souka A.P., Krampl E., Bakalis S., et al. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first-trimester. Ultrasound Obstet Gynecol 18 1 (2001) 9-17
91. Hyett J. Does nuchal translucency have a role in fetal cardiac screening?. Prenat Diagn 24 13 (2004) 1130-1135
92. McAuliffe F.M., Hornberger L.K., Winsor S., et al. Fetal cardiac defects and increased nuchal translucency thickness: a prospective study. Am J Obstet Gynecol 191 4 (2004) 1486-1490
93. Bahado-Singh R.O., Wapner R., Thom E., et al. First-trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening Study Group. Elevated first-trimester nuchal translucency increases the risk of congenital heart defects. Am J Obstet Gynecol 192 5 (2005) 1357-1361
94. Makrydimas G., Sotiriadis A., Huggon I.C., et al. Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers. Am J Obstet Gynecol 192 (2005) 89-95
95. Gembruch U., Knopfle G., Chatterjee M., et al. First-trimester diagnosis of fetal congenital heart disease by transvaginal two-dimensional and Doppler echocardiography. Obstet Gynecol 75 (1990) 496-498
96. Bronshtein M., Siegler E., Yoffe N., et al. Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks' gestation, using transvaginal sonography. Prenat Diagn 10 (1990) 697-702
97. Gembruch U., Knopfle G., Bald R., et al. Early diagnosis of fetal congenital heart disease by transvaginal echocardiography. Ultrasound Obstet Gynecol 3 (1993) 310-317
98. Achiron R., Rotstein Z., Lipitz S., et al. First-trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography. Obstet Gynecol 84 (1994) 69-72
99. Zosmer N., Souter V.L., Chan C.S.Y., et al. Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency. Br J Obstet Gynaecol 106 (1999) 829-833
100. Atzei A., Gajewska K., Huggon I.C., et al. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol 26 2 (2005) 154-157
101. Hyett J.A., Perdu M., Sharland G.K., et al. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 318 (1999) 81-85
102. Carvahlo J.S., Moscoso G., and Ville Y. First-trimester transabdominal fetal echocardiography. Lancet 351 (1998) 1023-1027
103. Souka A.P., Von Kaisenberg C.S., Hyett J.A., et al. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 192 (2005) 1005-1021
104. Hiippala A., Eronen M., Taipale P., et al. Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 18 (2001) 18-22
105. Sebire N.J., Snijders R.J.M., Hughes K., et al. Screening for trisomy 21 in twin pregnancies by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. Br J Obstet Gynaecol 103 (1996) 999-1003
106. Bush M.C., and Malone F.D. Down syndrome screening in twins. Clin Perinatol 32 2 (2005) 373-386
107. Sebire N.J., Hughes K., D'Ercole C., et al. Increased fetal nuchal translucency at 10-14 weeks as a predictor of severe twin-to-twin transfusion syndrome. Ultrasound Obstet Gynecol 10 (1997) 86-89
108. Shalev E., Zalele Y., Ben Ami M., et al. First-trimester ultrasonic diagnosis of twin reversed arterial perfusion sequence. Prenat Diagn 2 (1992) 21-22
109. Langlotz H., Sauerbrei E., and Murray S. Transvaginal Doppler sonographic diagnosis of an acardiac twin at 12 week gestation. J Ultrasound Med 10 (1991) 175-179
110. van Eyndhoven H.W., and ter Brugge H. The first-trimester ultrasonographic diagnosis of dicephalus conjoined twins. Acta Obstet Gynecol Scand 77 (1998) 464-466
111. Tongsong T., Chanprapaph P., and Pongsatha S. First-trimester diagnosis of conjoined twins: a report of three cases. Ultrasound Obstet Gynecol 14 (1999) 434-437
112. Bonilla-Musoles F., Raga F., Bonilla Jr. F., et al. Early diagnosis of conjoined twins using two-dimensional color Doppler and three-dimensional ultrasound. J Natl Med Assoc 90 (1998) 552-556
113. Goldberg Y., Ben-Shlomo I., Weiner E., et al. First-trimester diagnosis of conjoined twins in a triplet pregnancy after IVF and ICSI: case report. Hum Reprod 15 (2000) 1413-1415
114. Hill L.M. The sonographic detection of early first-trimester conjoined twins. Prenat Diagn 17 (1997) 961-963
115. Lam Y.H., Sin S.Y., Lam C., et al. Prenatal sonographic diagnosis of conjoined twins in the first-trimester: two case reports. Ultrasound Obstet Gynecol 11 (1998) 289-291
116. Maymon R., Halperin R., Weinraub Z., et al. Three-dimensional transvaginal sonography of conjoined twins at 10 weeks: a case report. Ultrasound Obstet Gynecol 11 (1998) 292-294
117. Meizner I., Levy A., Katz M., et al. Early ultrasonic diagnosis of conjoined twins. Harefuah 124 (1993) 741-744
118. Schmidt W., Heberling D., and Kubli F. Antepartum ultrasonographic diagnosis of conjoined twins in early pregnancy. Am J Obstet Gynecol 139 (1981) 961-963
119. Efrat Z., Akinfenwa O.O., and Nicolaides K.H. First-trimester determination of fetal gender by ultrasound. Ultrasound Obstet Gynecol 13 (1999) 305-307
120. Inman V., and Saunders JB de C.M. The ossification of the human frontal bone. J Anat 71 (1937) 383-394
121. Kennedy K.A., Flick K.J., and Thurmond A.S. First-trimester diagnosis of exencephaly. Am J Obstet Gynecol 162 (1990) 461-463
122. Johnson S.P., Sebire N.J., Snijders R.J., et al. Ultrasound screening for anencephaly at 10-14 postmenstrual weeks. Ultrasound Obstet Gynecol 9 (1997) 14-16
123. Bronshtein M., Timor-Tritsch I., and Rottem S. Early detection of fetal anomalies. In: Timor-Tritsch I., and Rottem S. (Eds). Transvaginal sonography (1991), Chapman & Hall, New York 327-371
124. Gonzalez-Gomez F., Salamanca A., Padilla M.C., et al. Alobar holoprosencephalic embryo detected via transvaginal sonography. Eur J Obstet Gynecol Reprod Biol 47 (1992) 266-270
125. Turner C.D., Silva S., and Jeanty P. Prenatal diagnosis of alobar holoprosencephaly at 10 postmenstrual weeks. Ultrasound Obstet Gynecol 13 (1999) 360-362
126. Baxi L., Warren W., Collins M.H., et al. Early detection of caudal regression syndrome with transvaginal scanning. Obstet Gynecol 75 (1990) 486-489
127. Nicolaides K.H., Campbell S., Gabbe S.G., et al. Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 2 (1986) 72-74
128. Campbell J., Gilbert W.M., Nicolaides K.H., et al. Ultrasound screening for spina bifida: cranial and cerebellar signs in a high-risk population. Obstet Gynecol 70 (1987) 247-250
129. Sebire N.J., Noble P.L., Thorpe-Beeston J.G., et al. Presence of the 'lemon' sign in fetuses with spina bifida at the 10-14-week scan. Ultrasound Obstet Gynecol 10 (1997) 403-405
130. Bernard J.P., Suarez B., Rambaud C., et al. Prenatal diagnosis of neural tube defect before 12 weeks' gestation: direct and indirect ultrasonographic semeiology. Ultrasound Obstet Gynecol 10 (1997) 406-409
131. Blumenfeld Z., Siegler E., and Bronshtein M. The early diagnosis of neural tube defects. Prenat Diagn 13 (1993) 863-871
132. Merz E., Weber G., Bahlmann F., et al. Application of transvaginal and abdominal three-dimensional ultrasound for the detection or exclusion of malformations of the fetal face. Ultrasound Obstet Gynecol 9 (1997) 237-243
133. Nyberg D., Mahoney B., and Kramer D. Paranasal echogenic mass: sonographic sign of bilateral complete cleft lip and palate before 20 menstrual weeks. Radiology 184 3 (1992) 757-759
134. Bronshtein M., Zimmer E., Gershoni-Baruch R., et al. First- and second -trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases. Obstet Gynecol 77 (1991) 443-449
135. Feldman E., Shalev E., Weiner E., et al. Microphthalmia-prenatal ultrasonic diagnosis: a case report. Prenat Diagn 5 (1985) 205-207
136. Jeanty P., Dramaix-Wilmet M., Van Gansbeke D., et al. Fetal ocular biometry by ultrasound. Radiology 143 (1982) 513-516
137. Monteagudo A., Timor-Tritsch I.E., Friedman A.H., et al. Autosomal dominant cataracts of the fetus: early detection by transvaginal ultrasound. Ultrasound Obstet Gynecol 8 (1996) 104-108
138. Zimmer E., Bronshtein M., Ophir E., et al. Sonographic diagnosis of fetal congenital cataracts. Prenat Diagn 13 (1993) 503-511
139. Dolkart L.A., and Reimers F.T. Transvaginal fetal echocardiography in early pregnancy: normative data. Am J Obstet Gynecol 165 (1991) 688-691
140. Bronshtein M., Siegler E., Eshcoli Z., et al. Transvaginal ultrasound measurements of the fetal heart at 11 to 17 weeks. Am J Perinatol 9 (1992) 38-42
141. Guzman E.R. Early prenatal diagnosis of gastroschisis with transvaginal ultrasonography. Am J Obstet Gynecol 162 (1990) 1253-1254
142. Kushnir O., Izquierdo L., Vigil D., et al. Early transvaginal sonographic diagnosis of gastroschisis. J Clin Ultrasound 18 (1990) 194-197
143. Fleming A.D., Vintzileos A.M., Rodis J.F., et al. Diagnosis of fetal ectopia cordis by transvaginal ultrasound. J Ultrasound Med 10 (1991) 413-415
144. Bennett T.L., Burlbaw J., Drake C.K., et al. Diagnosis of ectopia cordis at 12 postmenstrual weeks using transabdominal ultrasonography with color flow Doppler. J Ultrasound Med 10 (1991) 695-696
145. Forrester M.B., and Merz R.D. Epidemiology of abdominal wall defects, Hawaii, 1986-1997. Teratology 60 (1999) 117-123
146. Becker R., Runkel S., and Entezami M. Prenatal diagnosis of body stalk anomaly at 9 weeks. case report. Fetal Diagn Ther 15 (2000) 301-303
147. Cyr D.R., Mack L.A., Schoenecker S.A., et al. Bowel migration in the normal fetus: US detection. Radiology 161 (1986) 119-121
148. Curtis J.A., and Watson L. Sonographic diagnosis of omphalocele in the first-trimester of fetal gestation. J Ultrasound Med 7 (1988) 97-100
149. Nyberg D.A., Fitzsimmons J., Mack L.A., et al. Chromosomal abnormalities in fetuses with omphalocele. Significance of omphalocele contents. J Ultrasound Med 8 (1989) 299-308
150. Benacerraf B.R., Saltzman D.H., Estroff J.A., et al. Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents. Obstet Gynecol 75 (1990) 317-319
151. Pagliano M., Mossetti M., and Ragno P. Echographic diagnosis of omphalocele in the first-trimester of pregnancy. J Clin Ultrasound 18 (1990) 658-660
152. Brown D.L., Emerson D.S., Shulman L.P., et al. Sonographic diagnosis of omphalocele during 10th week of gestation. AJR Am J Roentgenol 153 (1989) 825-826
153. Gray D.L., Martin C.M., and Crane J.P. Differential diagnosis of first-trimester ventral wall defect. J Ultrasound Med 8 (1989) 255-258
154. Moore K. The urogenital system. In: Moore K. (Ed). The developing human. Clinically oriented embryology (1988), WB Saunders Company, Philadelphia 246-285
155. Rosati P., and Guariglia L. Transvaginal sonographic assessment of the fetal urinary tract in early pregnancy. Ultrasound Obstet Gynecol 7 (1996) 95-100
156. Green J.J., and Hobbins J.C. Abdominal ultrasound examination of the first-trimester fetus. Am J Obstet Gynecol 159 (1988) 165-175
157. Bronshtein M., Kushnir O., Ben-Rafael Z., et al. Transvaginal sonographic measurement of fetal kidneys in the first-trimester of pregnancy. J Clin Ultrasound 18 (1990) 299-301
158. Bronshtein M., Bar-Hava I., and Blumenfeld Z. Clues and pitfalls in the early prenatal diagnosis of 'late onset' infantile polycystic kidney. Prenat Diagn 12 (1992) 293-298
159. Bronshtein M., Bar-Hava I., and Blumenfeld Z. Differential diagnosis of the nonvisualized fetal urinary bladder by transvaginal sonography in the early second-trimester. Obstet Gynecol 82 (1993) 490-493
160. Zimmer E.Z., and Bronshtein M. Fetal intra-abdominal cysts detected in the first and early second-trimester by transvaginal sonography. J Clin Ultrasound 19 (1991) 564-567
161. Stiller R.J. Early ultrasonic appearance of fetal bladder outlet obstruction. Am J Obstet Gynecol 160 (1989) 584-585
162. Liao A.W., Sebire N.J., Geerts L., et al. Megacystis at 10-14 weeks of gestation: chromosomal defects and outcome according to bladder length. Ultrasound Obstet Gynecol 21 4 (2003) 338-341
163. Favre R., Kohler M., Gasser B., et al. Early fetal megacystis between 11 and 15 weeks. Ultrasound Obstet Gynecol 14 (1999) 402-406
164. Moore K. The limbs. In: Moore K. (Ed). The developing human. Clinically oriented embryology (1988), WB Saunders Company, Philadelphia 355-363
165. Timor Tritsch I.E., Farine D., and Rosen M.G. A close look at early embryonic development with the high-frequency transvaginal transducer. Am J Obstet Gynecol 159 (1988) 676-681
166. Mahoney B. Ultrasound evaluation of the fetal musculoskeletal system. In: Callen P. (Ed). Ultrasonography in obstetrics and gynecology (1994), WB Saunders Company, Philadelphia 254-290
167. Timor-Tritsch I.E., Monteagudo A., and Peisner D.B. High-frequency transvaginal sonographic examination for the potential malformation assessment of the 9-week to 14-week fetus. J Clin Ultrasound 20 (1992) 231-238
168. Bronshtein M., Keret D., Deutsch M., et al. Transvaginal sonographic detection of skeletal anomalies in the first and early second-trimesters. Prenat Diagn 13 (1993) 597-601
169. D'Ottavio G., Tamaro L.F., and Mandruzzato G. Early prenatal ultrasonographic diagnosis of osteogenesis imperfecta: a case report. Am J Obstet Gynecol 169 (1993) 384-385
170. DiMaio M.S., Barth R., Koprivnikar K.E., et al. First-trimester prenatal diagnosis of osteogenesis imperfecta Type II by DNA analysis and sonography. Prenat Diagn 13 (1993) 589-596
171. Brons J.T., van der Harten H.J., Wladimiroff J.W., et al. Prenatal ultrasonographic diagnosis of osteogenesis imperfecta. Am J Obstet Gynecol 159 (1988) 176-181
172. Stephens J.D., Filly R.A., Callen P.W., et al. Prenatal diagnosis of osteogenesis imperfecta Type II by real-time ultrasound. Hum Genet 64 (1983) 191-193
173. Sepulveda W., Romero R., Pryde P.G., et al. Prenatal diagnosis of sirenomelus with color Doppler ultrasonography. Am J Obstet Gynecol 170 (1994) 1377-1379
174. Sepulveda W., Corral E., Sanchez J., et al. Sirenomelia sequence versus renal agenesis: prenatal differentiation with power Doppler ultrasound. Ultrasound Obstet Gynecol 11 (1998) 445-449
175. van Zalen-Sprock M.M., van Vugt J.M., van der Harten J.J., et al. Early second-trimester diagnosis of sirenomelia. Prenat Diagn 15 (1995) 171-177
176. Valenzano M., Paoletti R., Rossi A., et al. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Hum Reprod Update 5 (1999) 82-86