Diagnosis of fetal abnormalities at the 10-14-week scan

Ultrasound in Obstetrics and Gynecology

Volumn 10, Issue 6, 1997, Pages 429-442

  Souka, A P ^a   Nicolaides, K H ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

10 14 week scan; Acrania; Anencephaly; Body stalk anomaly; Cardiac defects; Caudal regression syndrome; Dandy Walker malformation; Diaphragmatic hernia; Encephalocele; Exencephaly; Exomphalos; Fetal abnormalities; Fryns' syndrome; Gastroschisis; Holoprosencephaly; Hydrocephalus; Hydrolethalus syndrome; Increased nuchal translucency; Iniencephaly; Meckel Gruber syndrome; Renal defects; Skeletal defects; Smith Lemli Opitz syndrome; Spina bifida

Indexed keywords

ANENCEPHALUS; ARTICLE; CAUDAL REGRESSION SYNDROME; CLEFT PALATE; CONGENITAL DIAPHRAGM HERNIA; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DANDY WALKER SYNDROME; DIGESTIVE SYSTEM MALFORMATION; ECTRODACTYLY; ENCEPHALOCELE; EXENCEPHALY; FEMALE; FETUS; FETUS ECHOGRAPHY; FRYNS SYNDROME; GASTROSCHISIS; HOLOPROSENCEPHALY; HUMAN; HYDRANENCEPHALY; HYDROCEPHALUS; HYDRONEPHROSIS; KIDNEY AGENESIS; KIDNEY MALFORMATION; KIDNEY POLYCYSTIC DISEASE; MECKEL SYNDROME; OSTEOGENESIS IMPERFECTA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ROBERTS SYNDROME; SKELETON MALFORMATION; SMITH LEMLI OPITZ SYNDROME; SPINA BIFIDA; THANATOPHORIC DWARFISM; UMBILICAL HERNIA;

ABNORMALITIES, MULTIPLE; ANIMALS; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DIAGNOSIS, DIFFERENTIAL; FEMALE; FETUS; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; SENSITIVITY AND SPECIFICITY; ULTRASONOGRAPHY, PRENATAL;

EID: 0031467661     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.1997.10060429.x     Document Type: Article

References (103)

1. Campbell, S., Holt, E. M. and Johnson, F. D. (1972). Anencephaly: early ultrasonic diagnosis and active management. Lancet, 2, 1226-7
2. Warkany, J. (1971). Anencephaly. In Warkeny, J. (ed.) Congenital Malformations, pp. 189-200. (Chicago: Yearbook Publishers)
3. O'Rahilly, R. and Gardner, E. (1974). The initial appearance of ossification in staged human embryos. Am. J. Anat., 134, 291-308
4. Green, J. J. and Hobbins, J. C. (1988). Abdominal ultrasound examination of the first trimester fetus. Am. J. Obstet. Gynecol., 159, 165-75
5. Schmidt, W. and Kubli, F. (1982). Early diagnosis of severe congenital malformations by ultrasonography. J. Perinat. Med., 10, 233-41
6. Johnson, A., Losure, T. A. and Weiner, S. (1985). Early diagnosis of anencephaly. J. Clin. Ultrasound, 13, 503-5
7. Rottem, S., Bronshtein, M., Thaler, I. and Brandes, J. M. (1989). First trimester transvaginal sonographic diagnosis of fetal anomalies. Lancet, 1, 444-5
8. Kennedy, K. A., Flick, K. J. and Thurmond, A. S. (1990). First-trimester diagnosis of exencephaly. Am. J. Obstet. Gynecol., 162, 461-3
9. Bronshtein, M. and Ornoy, A. (1991). Acrania: anencephaly resulting from secondary degeneration of a closed neural tube: two cases in the same family. J. Clin. Ultrasound, 19, 230-4
10. Goldstein, R. B., Filly, R. A. and Callen, P. W. (1989). Sonography of anencephaly: pitfalls in early diagnosis. J. Clin. Ultrasound, 17, 397-402
11. Cullen, M. T., Green, J., Whetham, J., Salafia, C., Gabrielli, S. and Hobbins, J. C. ( 1990). Transvaginal ultrasonographic detection of congenital anomalies in the first trimester. Am. J. Obstet. Gynecol., 163, 466-76
12. Hernadi, L. and Torocsik, M. (1997). Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population. Prenat. Diagn., 17, 753-9
13. Johnson, S. P., Sebire, N. J., Snijders, R. J. M., Tunkel, S. and Nicolaides, K. H. (1997). Ultrasound screening for anencephaly at 10-14 weeks of gestation. Ultrasound Obstet. Gynecol., 9, 14-16
14. van Zalen-Sprock, R. M., van Vugt, J. M. G. and van Geijn, H. P. (1996). First-trimester sonographic detection of neuro-developmental abnormalities in some single-gene disorders. Prenat. Diagn., 16, 199-202
15. Bronshtein, M. and Zimmer, E. Z. (1991). Transvaginal sonographic follow-up on the formation of fetal cephalocele at 13-19 weeks' gestation. Obstet. Gynecol., 78, 528-30
16. van Zalen-Sprock, M., van Vugt, J. M. G., van der Harten, H. J. and van Geijn, H. P. (1992). Cephalocele and cystic hygroma: diagnosis and differentiation in the first trimester of pregnancy with transvaginal sonography. Report of two cases. Ultrasound Obstet. Gynecol., 2, 289-92
17. Pachi, A., Giancotti, A., Torcia, F., de Prosperi, V. and Maggi, E. (1989). Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case. Prenat. Diagn., 9, 187-90
18. Sepulveda, W., Sebire, N. J., Souka, A., Snijders, R. J. M. and Nicolaides, K. H. (1997). Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation. Am. J. Obstet. Gynecol., 176, 316-19
19. Braithwaite, J. and Economides, D. L. (1995). First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case. Prenat. Diagn., 15, 1168-70
20. Timor-Tritsch, I. E., Monteagudo, A. and Warren, W. B. (1991). Transvaginal sonographic definition of the central nervous system in the first and early second trimesters. Am. J. Obstet. Gynecol., 184, 497-503
21. Blaas, H.-G., Eik-Nes, S. H., Kiserud, T. and Hellevik, L. R. (1994). Early development of the forebrain and midbrain: a longitudinal ultrasound study from 7 to 12 weeks of gestation. Ultrasound Obstet. Gynecol., 4, 183-92
22. Kushnir, U., Shalev, J., Bronshtein, M., Bider, D., Lipitz, S., Nebel, L., Mashiach, S. and Ben-Rafael, Z. (1989). Fetal intracranial anatomy in the first trimester of pregnancy: transvaginal ultrasonographic evaluation. Neuroradiology, 31, 222-5
23. Blaas, H.-G., Eik-Nes, S. H., Kiserud, T. and Hellevik, L. R. (1994). Early development of the hindbrain: a longitudinal ultrasound study from 7 to 12 weeks of gestation. Ultrasound Obstet. Gynecol., 5, 151-60
24. Ulm, B., Ulm, M. R., Deutinger, J. and Bernaschek, G. (1997). Dandy-Walker malformation diagnosed before 21 weeks of gestation: associated malformations and chromosomal abnormalities. Ultrasound Obstet. Gynecol., 10, 167-70
25. Lin, Y., Chang, F. and Liu, C. (1992). Antenatal detection of hydranencephaly at 12 weeks' menstrual age. J. Clin. Ultrasound, 20, 62-4
26. Toth, Z., Csecsei, K., Szeifert, G., Torok, O. and Papp, Z. (1986). Early prenatal diagnosis of cyclopia associated with holoprosencephaly. J. Clin. Ultrasound, 14, 550-3
27. Bronshtein, M. and Weiner, Z. (1991). Early transvaginal sonographic diagnosis of alobar holoprosencephaly. Prenat. Diagn., 11, 459-62
28. Gonzalez-Gomez, F., Salamanca, A., Padilla, M. C., Camara, M. and Sabatel, R. M. (1992). Alobar holoprosencephalic embryo detected via transvaginal sonography. Eur. J. Obstet. Gynecol. Reprod. Biol., 47, 266-70
29. Snijders, R. J. M., Sebire, N. J., Nayar, R., Souka, A. and Nicolaides, K. H. (1998). Increased nuchal translucency in trisomy 13 fetuses at 10-14 weeks of gestation. Am. J. Med. Genet., in press
30. Sherer, D. M., Hearn-Stebbins, B., Harvey, W., Metlay, L. A. and Abramowicz, J. S. (1993). Endovaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 13 weeks' menstrual age. J. Clin. Ultrasound, 21, 124-7
31. Braithwaite, J. M., Armstrong, M. A. and Economides, D. L. (1996). Assessment of fetal anatomy at 12 to 13 weeks of gestation by transabdominal and transvaginal sonography. Br. J. Obstet. Gynaecol., 103, 82-5
32. Campbell, S., Pryse-Davies, J., Coltart, T. M., Seller, M. J. and Singer, J. D. (1975). Ultrasound in the diagnosis of spina bifida. Lancet, 1, 1065-8
33. Roberts, C. J., Evans, K. T., Hibbard, B. M., Laurence, K. M., Roberts, E. E. and Robertson, I. B. (1983). Diagnostic effectiveness of ultrasound in detection of neural tube defect: the South Wales experience of 2509 scans (1977-1982) in high-risk mothers. Lancet, 2, 1068-9
34. Nicolaides, K. H., Campbell, S., Gabbe, S. G. and Guidetti, R. (1986). Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet, 2, 72-4
35. Blumenfeld, Z., Siegler, E. and Bronshtein, M. (1993). The early diagnosis of neural tube defects. Prenat. Diagn., 13, 863-71
36. Sebire, N. J., Noble, P. L., Thorpe-Beeston, J. G., Snijders, R. J. M. and Nicolaides, K. H. (1997). Presence of the 'lemon sign' in fetuses with spina bifida at the 10-14-week scan. Ultrasound Obstet. Gynecol., 10, 403-5
37. Tegnander, E., Eik-Nes, S. H., Johansen, O. J. and Linker, D. T. (1995). Prenatal detection of heart defects at the routine fetal examination at 18 weeks in a non-selected population. Ultrasound Obstet. Gynecol., 5, 372-80
38. Dolkart, L. A. and Reimers, F. T. (1991). Transvaginal fetal echocardiography in early pregnancy: normative data. Am. J. Obstet. Gynecol., 165, 688-91
39. Bronshtein, M., Siegler, E., Eshcoli, Z. and Zimmer, E. Z. (1992). Transvaginal ultrasound measurements of the fetal heart at 11 to 17 weeks of gestation. Am. J. Perinatol., 9, 38-42
40. Johnson, P., Sharland, G., Maxwell, D. and Allan, L. (1992). The role of transvaginal sonography in the early detection of congenital heart disease. Ultrasound Obstet. Gynecol., 2, 248-51
41. Gembruch, U., Knopfle, G., Bald, R. and Hansmann, M. (1993). Early diagnosis of fetal congenital heart disease by transvaginal echocardiography. Ultrasound Obstet. Gynecol., 3, 310-17
42. Blaas, H.-G., Eik-Nes, S. H., Kiserud, T. and Hellevik, L. R. (1995). Early development of the abdominal wall, stomach and heart from 7 to 12 weeks of gestation: a longitudinal ultrasound study. Ultrasound Obstet. Gynecol., 6, 240-9
43. Gembruch, U., Knopfle, G., Charterjee, M., Bald, R. and Hansmann, M. (1990). First-trimester diagnosis of fetal congenital heart disease by transvaginal two-dimensional and Doppler echocardiography. Obstet. Gynecol., 75, 496-8
44. DeVore, G. R., Steiger, G. R. and Larson, E. J. (1987). Fetal echocardiography: the prenatal diagnosis of a ventricular septal defect in a 14-week fetus with pulmonary artery hypoplasia. Obstet. Gynecol., 69, 494-7
45. Bronshtein, M., Siegler, E., Yoffe, N. and Zimmer, E. Z. (1990). Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks' gestation, using transvaginal sonography. Prenat. Diagn., 10, 697-702
46. Achiron, R., Rotstein, Z., Lipitz, S., Mashiach, S. and Hegesh, J. (1994). First-trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography. Obstet. Gynecol., 84, 69-72
47. Bronshtein, M., Zimmer, E. Z., Milo, S., Ho, S. Y., Lorber, A. and Gerlis, M. (1991). Fetal cardiac abnormalities detected by transvaginal sonography at 12-16 weeks' gestation. Obstet. Gynecol., 78, 374-8
48. Hyett J. A., Moscoso, G. and Nicolaides, K. H. (1995). First trimester nuchal translucency and cardiac septal defects in fetuses with trisomy 21. Am. J. Obstet. Gynecol., 172, 1411-13
49. Hyett, J. A., Moscoso, G. and Nicolaides, K. H. (1995). Cardiac defects in fetal trimester fetuses with trisomy 18. Fetal Diagn. Ther., 10, 381-6
50. Hyett, J. A., Moscoso, G. and Nicolaides, K. H. (1995). Morphometric analysis of the great vessels in early fetal life. Hum. Reprod., 10, 3045-8
51. Hyett, J. A., Moscoso, G. and Nicolaides, K. H. (1995). Increased nuchal translucency in trisomy 21 fetuses: relation to narrowing of the aortic isthmus. Hum. Reprod., 10, 3049-51
52. Hyett, J. A., Moscoso, G. and Nicolaides, K. H. (1997). Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. Am. J. Med. Genet., 69, 207-16
53. Hyett, J. A., Perdu, M., Sharland, G. K., Snijders, R. J. M. and Nicolaides, K. H. (1997). Increased nuchal translucency at 10-14 weeks of gestation as a marker for major cardiac defects. Ultrasound Obstet. Gynecol., 10, 242-6
54. Bronshtein, M., Lewit, N., Sujov, P., Makhoul, I. and Blazer, S. (1995). Prenatal diagnosis of congenital diaphragmatic hernia: timing of visceral herniation and outcome. Prenat. Diagn., 15, 695-8
55. Thorpe-Beeston, J. G., Gosden, C. M. and Nicolaides, K. H. (1989). Prenatal diagnosis of congenital diaphragmatic hernia: associated malformations and chromosomal defects. Fetal Ther., 4, 21-8
56. Harrison, M. R., Adzick, N. S., Estes, J. M. and Howell, L. J. (1994). A prospective study of the outcome for fetuses with diaphragmatic hernia. J. Am. Med. Assoc., 271, 382-4
57. Sebire, N. J., Snijders, R. J. M., Davenport, M., Greenough, A. and Nicolaides, K. H. (1998). Fetal nuchal translucency thickness at 10-14 weeks of gestation and congenital diaphragmatic hernia. Obstet. Gynecol., in press
58. Bulas, D., Saal, H., Allen, J. F., Kapur, S., Nies, B. M. and Newman, K. (1992). Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryn's syndrome. Prenat. Diagn., 12, 867-75
59. Blaas, H.-G., Eik-Nes, S. H., Kiserud, T. and Hellevik, L. R. (1995). Early development of the abdominal wall, stomach and heart from 7 to 12 weeks of gestation: a longitudinal ultrasound study. Ultrasound Obstet. Gynecol., 6, 240-9
60. Timor-Tritsch, I. E., Warren, W., Peisner, D. B. and Pirrone, E. (1989). First-trimester midgut herniation: a high frequency transvaginal sonographic study. Am. J. Obstet. Gynecol., 161, 831-3
61. van Zalen-Sprock, R. M., van Vugt, J. M. G. and van Geijn, H. P. (1997). First-trimester sonography of physiological midgut herniation and early diagnosis of omphalocele. Prenat. Diagn., 17, 511-18
62. Brown, D. L., Emerson, D. S., Shulman, L. P. and Carson, S. A. (1989). Sonographic diagnosis of omphalocele during the 10th week of gestation. Am. J. Radiol., 153, 825-6
63. Pagliano, M., Mossetti, M. and Ragno, P. (1990). Echographic diagnosis of omphalocele in the first trimester of pregnancy. J. Clin. Ultrasound, 18, 658-60
64. Heydanus, R., Raats, A. M., Tibboel, D., Lost, F. J. and Wladimiroff, J. W. (1996). Prenatal diagnosis of fetal abdominal wall defects: a retrospective analysis of 44 cases. Prenat. Diagn., 16, 411-17
65. Snijders, R. J. M., Sebire, N. J., Souka, A., Santiago, C. and Nicolaides, K. H. (1995). Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation. Ultrasound Obstet. Gynecol., 6, 250-5
66. Kushnir, O., Izquierdo, L., Vigil, D. and Curet, L. B. (1990). Early transvaginal diagnosis of gastroschisis. J. Clin. Ultrasound, 18, 194-7
67. Guzman, E. P. (1990). Early prenatal diagnosis of gastroschisis with transvaginal sonography. Am. J. Obstet. Gynecol., 162, 1253-4
68. Rosati, P. and Guariglia, L. (1996). Transvaginal sonographic assessment of the fetal urinary tract in early pregnancy. Ultrasound Obstet. Gynecol., 7, 95-100
69. Bronshtein, M., Amit, A., Achiron, R., Noy, I. and Blumenfeld, Z. (1994). The early prenatal sonographic diagnosis of renal agenesis: techniques and possible pitfalls. Prenat. Diagn., 4, 291-7
70. Bronshtein, M., Bar-Hava, I. and Blumenfeld, Z. (1992). Clues and pitfalls in the early prenatal diagnosis of 'late onset' infantile polycystic kidney. Prenat. Diagn., 12, 293-8
71. Bronshtein, M., Yoffe, N., Brandes, J. M. and Blumenfeld, Z. (1990). First and early second-trimester diagnosis of fetal urinary tract anomalies using transvaginal sonography. Prenat. Diagn., 10, 653-66
72. Sehire, N. J., van Kaisenberg, C., Rubio, C., Snijders, R. J. M. and Nicolaides, K. H. (1996). Fetal megacystis at 10-14 weeks of gestation. Ultrasound Obstet. Gynecol., 8, 387-90
73. Bulic, M., Podobnik, M., Korenic, B. and Bistricki, J. (1987). First-trimester diagnosis of low obstructive uropathy: an indicator of initial renal function in the fetus. J. Clin. Ultrasound, 15, 537-41
74. Stiller, R. (1989). Early ultrasonic appearance of fetal bladder outlet obstruction. Am. J. Obstet. Gynecol., 160, 584-5
75. Drugan, A., Zador, I. E., Bhatia, R. K., Sacks, A. J. and Evans, M. (1989). First trimester diagnosis and early in utero treatment of obstructive uropathy. Acta Obstet. Gynecol. Scand., 68, 645-9
76. Zimmer, E. Z. and Bronshtein, M. (1991). Fetal intra-abdominal cysts detected in the first and early second trimester by transvaginal sonography. J. Clin. Ultrasound, 19, 664-7
77. Yoshida, M., Matsumura, M., Shintaku, Y., Yura, Y., Kanamori, T., Matsushita, K., Nonogaki, T., Hayashi, M. and Tauchi, K. (1995). Prenatally diagnosed female prune-belly syndrome associated with tetralogy of Fallot. Gynecol. Obstet. Invest., 39, 141-4
78. Harrison, M. R., Nakayama, D. K., Noall, R. and De Lorimer, A. A. (1982). Correction of congenital hydro-nephrosis in utero. II. Decompression reverses the effect of obstruction on the fetal lung and urinary tract. J. Pediatr. Surg., 17, 965-74
79. Glick, P. L., Harrison, M. R., Adzick, N. S., Noall, R. A. and Villa, R. E. (1984). Correction of congenital hydro-nephrosis in utero. IV. In utero decompression prevents renal dysplasia. J. Pediatr. Surg., 19, 549-57
80. Timor-Tritsch, I. E., Farine, D. and Rosen, M. (1988). A close look at early embryonic development with the high-frequency transvaginal transducer. Am. J. Obstet. Gynecol., 159, 676-81
81. Timor-Tritsch, I. E., Monteagudo, A. and Peisner, D. B. (1992). High-frequency transvaginal sonographic examination for the potential malformation assessment of the 9-week to 14-week fetus. J. Clin. Ultrasound, 20, 231-8
82. van Zalen-Sprock, R. M., Brons, J. T. J., van Hugt, J. M. G., van der Harten, H. J. and van Geijn, H. P. (1997). Ultrasonographic and radiologic visualization of the developing embryonic skeleton. Ultrasound Obstet. Gynecol., 9, 392-7
83. Zorzoli, A., Kusterman, E., Carvelli, E., Corso, F. E., Fogliani, R., Aimi, G. and Nicolini, U. (1994). Measurement of fetal limb bones in early pregnancy. Ultrasound Obstet. Gynecol., 4, 29-33
84. Fisk, N. M., Vaughan, J., Smidt, M. and Wigglesworth, J. (1991). Transvaginal ultrasound recognition of nuchal oedema in the first-trimester diagnosis of achondrogenesis. J. Clin. Ultrasound, 9, 588-90
85. Soothill, P. W., Vuthiwong, C. and Rees, H. (1993). Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks of gestation. Prenat. Diagn., 13, 523-8
86. Benacerraf, B., Lister, J. and Du Ponte, B. L. (1988). First-trimester diagnosis of fetal abnormalities. J. Reprod. Med., 9, 777-80
87. Stephens, J. D., Filly, R. A., Callen, P. W. and Golbus, M. S. (1983). Prenatal diagnosis of osteogenesis imperfecta type 2 by real-time ultrasound. Hum. Genet., 64, 191-3
88. Bronshtein, M. and Weiner, Z. (1992). Anencephaly in a fetus with osteogenesis imperfecta: early sonographic diagnosis by transvaginal sonography. Prenat. Diagn., 12, 831-4
89. Dimaio, M. S., Barth, R., Koprivnikar, K. E., Sussman, B. L., Copel, J. A., Mahoney, M. J., Byers, P. H. and Cohn, D. H. (1993). First trimester prenatal diagnosis of osteogenesis imperfecta type 2 by DNA analysis and sonography. Prenat. Diagn., 13, 589-96
90. Ben Ami, M., Perlitz, Y., Haddad, S. and Matilsky, M. (1997). Increased nuchal translucency is associated with asphyxiating thoracic dysplasia. Ultrasound Obstet. Gynecol., 10, 297-8
91. Otano, L., Matayoshi, T., Lippold, S., Serafin, E., Scarpati, R. and Gadow, E. C. (1993). Roberts syndrome: first trimester prenatal diagnosis by cytogenetics and ultrasound in affected and non-affected pregnancies. Am. J. Hum. Genet., 53, 1445
92. Eliyahu, S., Weiner, E., Lahav, D. and Shalev, E. (1997). Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. Ultrasound Obstet. Gynecol., 9, 314-18
93. Bronshtein, M. and Gershoni-Baruch, R. (1993). Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. Prenat. Diagn., 13, 519-22
94. Ajayi, R. A., Keen, G. E. and Knott, P. D. (1995). Ultrasound diagnosis of the Rena Shokeir phenotype at 14 weeks of pregnancy. Prenat. Diagn., 15, 762-4
95. Hyett, J., Noble, P., Sebire, N. J., Snijders, R. and Nicolaides, K. H. (1997). Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet. Gynecol., 9, 310-13
96. Tompkins, D., Hunter, A. and Roberts, M. (1979). Cytogenetic findings in Roberts-SC phocomelia syndrome. Am. J. Med. Genet., 4, 17-26
97. Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S. and Salen, G. (1994). Defective cholesterol bio-synthesis associated with the Smith-Lemli-Opitz syndrome. N. Engl. J. Med., 330, 107-13
98. Hyett, J. A., Clayton, P. T., Moscoso, G. and Nicolaides, K. H. (1995). Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. Am. J. Med. Genet., 58, 374-6
99. Hobbins, J. C., Jones, O. W., Gottesfeld, S. and Persutte, W. (1994). Transvaginal sonography and transabdominal embryoscopy in the first-trimester diagnosis of Smith-Lemli-Opitz syndrome, type 2. Am. J. Obstet. Gynecol., 171, 546-9
100. Mann, L., Ferguson-Smith, M. A., Desai, M., Gibson, A. A. M. and Raine, P. A. M. (1984). Prenatal assessment of anterior abdominal wall defects and their prognosis. Prenat. Diagn., 4, 427-35
101. Daskalakis, G., Sebire, N. J., Jurkovic, D., Snijders, R. and Nicolaides, K. H. (1997). Body stalk anomaly at 10-14 weeks of gestation. Ultrasound Obstet. Gynecol., 10, 416-18
102. Baxi, L., Warren, W., Collins, M. and Timor-Tritsch, I. E. (1990). Early detection of caudal regression syndrome with transvaginal scanning. Obstet. Gynecol., 75, 485-9
103. Ammala, P. and Salonen, R. (1995). First-trimester diagnosis of hydrolethalus syndrome. Ultrasound Obstet. Gynecol., 5, 60-2