Chromosomal abnormalities associated with neural tube defects (I): Full aneuploidy

Taiwanese Journal of Obstetrics and Gynecology

Volumn 46, Issue 4, 2007, Pages 325-335

  Chen, Chih Ping ^a,b,c  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Chromosomal abnormalities; Full aneuploidy; Neural tube defects

Indexed keywords

ALPHA FETOPROTEIN;

ANENCEPHALUS; ANEUPLOIDY; ARNOLD CHIARI MALFORMATION; CHROMOSOME ABERRATION; CHROMOSOME STRUCTURE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; ENCEPHALOCELE; FETUS DEVELOPMENT; GESTATIONAL AGE; HORSESHOE KIDNEY; HUMAN; INCIDENCE; LIMB DEVELOPMENT; LIVE BIRTH; MATERNAL AGE; MICROPHTHALMIA; MONOSOMY X; MOSAICISM; NEURAL TUBE DEFECT; NEWBORN DEATH; PRENATAL DIAGNOSIS; REVIEW; RISK ASSESSMENT; RISK FACTOR; SPINA BIFIDA; TETRAPLOIDY; TRIPLOIDY; TRISOMY 13; TRISOMY 16; TRISOMY 18; TRISOMY 21; TRISOMY 7; TRISOMY 8; ULTRASOUND; UTERUS BICORNIS;

EID: 38049074755     PISSN: 10284559     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1028-4559(08)60002-9     Document Type: Article

References (66)

1. McGahan JP, Pilu G, Nyberg DA. Neural tube defects and the spine. In: Nyberg DA, McGahan JP, Pretorius DH, Pilu G, eds. Diagnostic Imaging of Fetal Anomalies. Philadelphia: Lippincott Williams & Wilkins, 2003:291-334.
2. Byrne J, Warburton D. Neural tube defects in spontaneous abortions. Am J Med Genet 1986;25:327-33.
3. McFadden DE, Kalousek DK. Survey of neural tube defects in spontaneously aborted embryos. Am J Med Genet 1989; 32:356-8.
4. Coerdt W, Miller K, Holzgreve W, Rauskolb R, Schwinger E, Rehder H. Neural tube defects in chromosomally normal and abnormal human embryos. Ultrasound Obstet Gynecol 1997;10:410-5.
5. Philipp T, Kalousek DK. Neural tube defects in missed abortions: embryoscopic and cytogenetic findings. Am J Med Genet 2002;107A:52-7.
6. Drugan A, Johnson MP, Dvorin E, Moody J, Krivchenia EL, Schwartz D, Evans MI. Aneuploidy with neural tube defects: another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein. Fetal Ther 1989;4:88-92.
7. Hume RF Jr, Drugan A, Reichler A, Lampinen J, Martin LS, Johnson MP, Evans MI. Aneuploidy among prenatally detected neural tube defects. Am J Med Genet 1996;61:171-3.
8. Kennedy D, Chitayat D, Winsor EJT, Silver M, Toi A. Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet 1998;77:317-21.
9. O'Reilly GC, Shields LE. Karyotyping for isolated neural tube defects: a report of two cases. J Reprod Med 2000; 45:950-2.
10. Sepulveda W, Corral E, Ayala C, Be C, Gutierrez J, Vasquez P. Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol 2004;23:352-6.
11. Stoll C, Alembik Y, Dott B. Associated malformations in cases with neural tube defects. Genet Couns 2007;18:209-15.
12. Babcook CJ, Goldstein RB, Filly RA. Prenatally detected fetal myelomeningocele: is karyotype analysis warranted? Radiology 1995;194:491-4.
13. Babcook CJ, Ball RH, Feldkamp ML. Prevalence of aneuploidy and additional anatomic abnormalities in fetuses with open spina bifida: population based study in Utah. J Ultrasound Med 2000;19:619-23.
14. Harmon JP, Hiett AK, Palmer CG, Golichowski AM. Prenatal ultrasound detection of isolated neural tube defects: is cytogenetic evaluation warranted? Obstet Gynecol 1995;86: 595-9.
15. Wen S, Ethen M, Langlois PH, Mitchell LE. Prevalence of encephalocele in Texas, 1999-2002. Am J Med Genet A 2007;143:2150-5.
16. Lynch SA. Non-multifactorial neural tube defects. Am J Med Genet C Semin Med Genet 2005;135:69-76.
17. Claussen U, Ulmer R, Beinder E, Voigt HJ. Six years' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype. Prenat Diagn 1994;14:113-21.
18. Babini B, Piazzi G, Scorza PA. On a case of trisomy syndrome of the chromosome group 16-18. Boll Soc Ital Biol Sper 1963;39:332-5. [In Italian]
19. Menashi M, Ornoy A, Cohen MM. Anencephaly in trisomy 18: related or unrelated? Teratology 1977;15:325-8.
20. Merrild U, Schiøler V, Christensen F, Wolny E, Edeling CJ. Anencephaly in trisomy 18 associated with elevated alpha-1-fetoprotein in amniotic fluid. Hum Genet 1978;45:85-8.
21. Nisani R, Chemke J, Cohen-Ankori H, Nissim F. Neural tube defects in trisomy 18. Prenat Diagn 1981;1:227-31.
22. Ramos C, Palacios S, Ayuso C, Sanchez Cascos A. Prenatal diagnosis in a fetus with anencephaly and trisomy 18. An Esp Pediatr 1985;23:278-80. [In Spanish]
23. Seller MJ. Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube. Clin Dysmorphol 1995;4:202-7.
24. Chen CP. Central nervous system anomalies associated with fetal trisomy 18. Prenat Diagn 2005:25;419-21.
25. Moore CA, Harmon JP, Padilla LM, Castro VB, Weaver DD. Neural tube defects and omphalocele in trisomy 18. Clin Genet 1988;34:98-103.
26. van Maldergem L, Gillerot Y, Koulischer L. Neural tube defects and omphalocoele in trisomy 18. Clin Genet 1989; 35:77-8.
27. Grangé G, Favre R, Gasser B. Endovaginal sonographic diagnosis of craniorachischisis at 13 weeks of gestation. Fetal Diagn Ther 1994;9:391-4.
28. Donaldson SJF, Wright CA, de Ravel TJL. Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis. Prenat Diagn 1999;19:580-2.
29. Passarge E, True CW, Sueoka WT, Baumgartner NR, Keer KR. Malformations of the central nervous system in trisomy 18 syndrome. J Pediatr 1966;69:771-8.
30. Flannery DB, Kahler SG. Neural tube defects in trisomy 18. Prenat Diagn 1986;6:97-9.
31. Phadke SR, Thakur S. Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. Prenat Diagn 2002;22:1240-1.
32. Halder A, Agarwal S, Pandey A. Iniencephaly and chromosome mosaicism: a report of two cases. Congenit Anom (Kyoto) 2005;45:102-5.
33. Rodriguez JI, Garcia M, Morales C, Morillo A, Delicado A. Trisomy 13 syndrome and neural tube defects. Am J Med Genet 1990;36:513-6.
34. Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 13. Arch Dis Child 1994;71:343-5.
35. Harris MJ, Poland BJ, Dill FJ. Triploidy in 40 human spontaneous abortuses: assessment of phenotype in embryos. Obstet Gynecol 1981;57:600-6.
36. Jauniaux E, Brown R, Rodeck C, Nicolaides KH. Prenatal diagnosis of triploidy during the second trimester of pregnancy. Obstet Gynecol 1996;88:983-9.
37. Mittal TK, Vujanic GM, Morrissey BM, Jones A. Triploidy: antenatal sonographic features with post-mortem correlation. Prenat Diagn 1998;18:1253-62.
38. Philipp T, Grillenberger K, Separovic ER, Philipp K, Kalousek DK. Effects of triploidy on early human development. Prenat Diagn 2004;24:276-81.
39. Frohlich GS. Delineation of trisomy 9. J Med Genet 1982; 19:316-7.
40. Benacerraf BR, Pauker S, Quade BJ, Bieber FR. Prenatal sonography in trisomy 9. Prenat Diagn 1992;12:175-81.
41. Golden JA, Schoene WC. Central nervous system malformations in trisomy 9. J Neuropathol Exp Neurol 1993;52:71-7.
42. Seller MJ, Bergbaum A, Daker MG. Trisomy 9 in an embryo with spina bifida. Clin Dysmorphol 1998;7:217-9.
43. Chen CP, Chern SR, Cheng SJ, et al. Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature. Prenat Diagn 2004;24:455-62.
44. Seller MJ, Mazzaschi R, Ogilvie CM, Mohammed S. A trisomy 2 fetus with severe neural tube defects and other abnormalities. Clin Dysmorphol 2004;13:25-7.
45. Doray B, Favre R, Gasser B, Girard-Lemaire F, Schluth C, Flori E. Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature. Genet Couns 2003;14:165-72.
46. Lurie IW, Ilyina HG, Gurevich DB, et al. Trisomy 2p: analysis of unusual phenotypic findings. Am J Med Genet 1995;55:229-36.
47. Lee KJ, Mendelsohn M, Jessell TM. Neuronal patterning by BMPs: a requirement for GDF7 in the generation of a discrete class of commissural interneurons in the mouse spinal cord. Genes Dev 1998;12:3394-407.
48. Ishikawa K, Nagase T, Nakajima D, et al. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. DNA Res 1997;4:307-13.
49. Källén B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet 1996; 65:160-6.
50. Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998;77:431-8.
51. Barkai G, Arbuzova S, Berkenstadt M, Heifetz S, Cuckle H. Frequency of Down's syndrome and neural-tube defects in the same family. Lancet 2003;361:1331-5.
52. Amorim MR, Castilla EE, Orioli IM. Is there a familial link between Down's syndrome and neural tube defects? Population and familial survey. BMJ 2004;328:84.
53. Forrester MB, Merz RD. Occurrence of neural tube defects and Down syndrome among siblings. Hawaii Med J 2004; 63:127-8.
54. Martínez-Frías ML, Rodríguez L, López- Grondona F, Bermejo E, Rodríguez-Pinilla E, Frías JL. Frequency of neural tube defects and Down syndrome in the same sibship: analysis of the Spanish ongoing case-control study. Am J Med Genet A 2004;126:430-1.
55. James SJ, Pogribna M, Pogribny IP, et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 1999;70:495-501.
56. Hobbs CA, Sherman SL, Yi P, et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 2000;67:623-30.
57. Al-Gazali LI, Padmanabhan R, Melnyk S, et al. Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect. Am J Med Genet 2001;103:128-32.
58. Guéant JL, Guéant-Rodriguez RM, Anello G, et al. Genetic determinants of folate and vitamin B12 metabolism: a common pathway in neural tube defect and Down syndrome? Clin Chem Lab Med 2003;41:1473-7.
59. Rosenblatt DS. Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome. Am J Clin Nutr 1999;70:429-30.
60. Palekar AG. Preconceptional intake of folate and vitamin B12 in the prevention of neural tube defects and Down syndrome. Am J Obstet Gynecol 2001;184:517.
61. Longo A, Maccani U. On the chromosome count in a case of exencephalia. Osp Maggiore 1965;60:965-72. [In Italian]
62. McDermott A, Cross M. A case of complete trisomy 14 within involvement of 13/14 translocation. Clin Genet 1980; 17:77.
63. Philipp T, Kalousek DK. Morphology of the 45,X embryo: an embryoscopic study. Am J Med Genet A 2003;120:314-9.
64. Pitt D, Leversha M, Sinfield C, Campbell P, Anderson R, Bryan D, Rogers J. Tetraploidy in a liveborn infant with spina bifida and other anomalies. J Med Genet 1981;18: 309-11.
65. Scarbrough PR, Hersh J, Kukolich MK, et al. Tetraploidy: a report of three live-born infants. Am J Med Genet 1984; 19:29-37.
66. Shiono H, Azumi J, Fujiwara M, Yamazaki H, Kikuchi K. Tetraploidy in a 15-month-old girl. Am J Med Genet 1988; 29:543-7.