Prenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: Perspectives for a new diagnostic tool

Fetal Diagnosis and Therapy

Volumn 22, Issue 5, 2007, Pages 361-364

  Heinrich, Juliana Karina Ruiz ^a   Machado, Isabela Nelly ^a   Vivas, Luciana ^a   Bianchi, Maria Otília ^a   Cursino Andrade, Kleber ^a   Sbragia, Lourenço ^a   Barini, Ricardo ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Comparative genomic hybridization; Gastroschisis; Karyotype; Omphalocele

Indexed keywords

ABDOMINAL WALL DEFECT; ARTICLE; CHROMOSOME 3; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; FEMALE; FETUS; GASTROSCHISIS; GENOMICS; HUMAN; KARYOTYPE; KARYOTYPING; OMPHALOCELE; PRIORITY JOURNAL;

ABDOMINAL WALL; AMNIOCENTESIS; FEMALE; GASTROSCHISIS; GENE EXPRESSION PROFILING; HUMANS; NUCLEIC ACID HYBRIDIZATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 34547958787     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000103297     Document Type: Article

References (17)

1. Pardue ML, Gall JG: Chromosomal localization of mouse satellite DNA. Science 1970;168:1356-1358.
2. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992;30;258:818-821.
3. Schrock E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T: Multicolor spectral karyotyping of human chromosomes. Science 1996;273:494-497.
4. Yang YH, Yang ES, Kwon JY, Kim JK, Park YW: Prenatal diagnosis of trisomy 21 with fetal cells in maternal blood using comparative genomic hybridization. Fetal Diagn Ther 2006;21:125-133.
5. Iqbal MA, Ramadan S, Ali FA, Kurdi W: Complex de novo cryptic subtelomeric rearrangements in a fetus with multiple ultrasonographic abnormalities and a normal karyotype at amniocentesis. Prenat Diagn 2005;25:1142-1149.
6. De Pater JM, Nikkels PG, Poot M, Eleveld MJ, Stigter RH, van der Sijs-Bos CJ, Loneus WH, Engelen JJ: Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q. Pediatr Dev Pathol 2005;8:497-503.
7. Chen CP, Chern SR, Wang TH, Hsueh DW, Lee CC, Town DD, Wang W, Ko TM: Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3 ] qter) and partial trisomy 18q (18q23 ] qter) in fetus associated with cystic hygroma and ambiguous genitalia. Prenat Diagn 2005;25:492-496.
8. Staebler M, Donner C, Van Regemorter N, Duprez L, De Maertelaer V, Devreler F, Avni F: Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound? Prenat Diagn 2005;25:567-573.
9. Bayani J, Brenton JD, MacGregor PF, Beheshti B, Albert M, Nallainathan D, Karaskova J, Rosen B, Murphy J, Laframboise S, Zanke B, Squire JA: Parallel analysis of sporadic primary ovarian carcinomas by spectral karyotyping, comparative genomic hybridization, and expression microarrays. Cancer Res 2002;62:3466-3476.
10. Thein A, Charles A, Davies T, Newbury-Ecob R, Soothill P: The role of comparative genomic hybridization in prenatal diagnosis. Br J Obstet Gynaecol 2001;108:642-648.
11. Lapierre JM, Tachdjian G: Detection of chromosomal abnormalities by comparative genomic hybridization. Curr Opin Obstet Gynecol 2005;17:171-177.
12. Calzolari E, Bianchi F, Dolk H, Milan M: Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT working group. Am J Med Genet 1995;58:187-194.
13. Yang P, Beaty TH, Khoury MJ, Chee E, Stewart W, Gordis L: Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. Am J Med Genet 1992;44:668-675.
14. Komuro H, Mori M, Hayashi Y, Fukagawa M, Makino S, Takahara K, Greenspan DS, Momoi MY: Mutational analysis of the BMP-1 gene in patients with gastroschisis. J Pediatr Surg 2001;36:885-887.
15. Salihu HM, Pierre-Louis BJ, Druschel CM, Kirby RS: Omphalocele and gastroschisis in the State of New York, 1992-1999. Birth Defects Res A Clin Mol Teratol 2003;67:630-636.
16. Hwang PJ, Kousseff, BG: Omphalocele and gastroschisis: an 18-year review study. Genet Med 2004;6:232-236.
17. Yatsenko SA, Mendonza-Londono R, Belmont JW, Shaffer LG: Omphalocele in trisomy 3q: further delineation of phenotype. Clin Genet 2003;64:404-413.