Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses

American Journal of Medical Genetics

Volumn 69, Issue 2, 1997, Pages 207-216

  Hyett, Jon ^a   Moscoso, Gonzalo ^a   Nicolaides, Kypros ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

aortic isthmus; cardiac defects; chromosomal abnormalities; nuchal translucency; prenatal diagnosis

Indexed keywords

AORTA COARCTATION; ARTICLE; CHORION VILLUS; CHROMOSOME ABERRATION; CONGENITAL HEART MALFORMATION; EDWARDS SYNDROME; FETUS; FIRST TRIMESTER PREGNANCY; GREAT VESSELS TRANSPOSITION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY 18; TRISOMY 21; TURNER SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CORONARY VESSEL ANOMALIES; DOWN SYNDROME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MICROSCOPY, ELECTRON, SCANNING; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREVALENCE; TRISOMY;

EID: 0031047257     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970317)69:2<207::AID-AJMG18>3.0.CO;2-P     Document Type: Article

References (24)

1. Balderston SM, Shaffer EM, Washington RL, Sondheimer HM (1990): Congenital polyvalvular disease in trisomy 18: Echocardiographic diagnosis. Pediatric Cardiol 11:138-142.
2. Beeson WT, Kirby ML, Van Mierop LHS, Teabeaut JR (1986): Effects of cardiac neural crest lesion size at various embryonic ages on incidence and type of cardiac defects. Circulation 73:360-364.
3. Clark EB (1984): Neck web and congenital heart defects: A pathogenic association in 45 XO Turner syndrome? Teratology 29:355-361.
4. Halford S, Wadey R, Roberts C, Daw SC, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, Francis F, Lehrach H, Williamson R, Wilson DI, Goodship J, Cross I, Burn J, Scambler PJ (1993): Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Sphrintzen syndrome and familial congenital heart disease. Hum Mol Genet 2: 2099-2107.
5. Hoe TS, Chan KC, Boo NY (1990): Cardiovascular malformations in Malaysian neonates with Down's syndrome. Singapore Med J 31: 474-476.
6. Hyett JA, Moscoso G, Nicolaides KH (1995a): First trimester nuchal translucency and cardiac septal defects in fetuses with trisomy 21. Am J Obstet Gynecol 172:1411-1413.
7. Hyett JA, Moscoso G, Nicolaides KH (1995b): Cardiac defects in first trimester fetuses with trisomy 18. Fetal Diagn Ther 10:381-386.
8. Hyett J.A, Moscoso G, Nicolaides KH (1995c): Morphometric analysis of the great vessels in early fetal life. Human Reprod 10: 3045-3048.
9. Hyett JA, Moscoso G, Nicolaides KH (1995d): Increased nuchal translucency in Trisomy 21 fetuses: Relation to narrowing of the aortic isthmus. Human Reprod 10:3049-3051.
10. Hyett JA, Sebire NJ, Snijders RJM, Nicolaides KH (1996): Intrauterine lethality of trisomy 21 fetuses with increased nuchal translucency thickness. Ultrasound Obstet Gynecol 7:101-103.
11. Matsuoka R, Misugi K, Goto A, Gilbert EF, Ando M (1983): Congenital heart anomalies in the trisomy 18 syndrome with reference to congenital poyvalvular disease. Am J Med Genet 14:657-668.
12. Miyabara S, Sugihara H, Maehara N, Shouno H, Tasaki H, Yoshida K, Saito N, Kayama F, Ibara S, Suzumori K (1989): Significance of cardiovascular malformations in cystic hygroma: A new interpretation of the pathogenesis. Am J Med Genet 34:489-501.
13. Moscoso G, Pexieder T (1990): Variations in microscopic anatomy and ultrastructure of human embryonic hearts subjected to three different modes of fixation. Path Res Pract 186:768-774.
14. Musewe NN, Alexander DJ, Teshima I, Smallhorn JF, Freedom RM (1990): Echocardio-graphic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18. J Am Coll Cardiol 15:673-677.
15. Nicolaides KH, Azar G, Snijders RJM, Gosden CM (1992): Fetal nuchal oedema: Associated malformations and chromosomal defects. Fetal Diag Ther 7:123-131.
16. Nicolaides KH, Brizot ML, Snijders RJM (1994): Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy. Br J Obstet Gynaecol 101:782-786.
17. Pandya PP, Snijders RJM, Johnson SP, de Lourdes Brizot M, Nicolaides KH (1995): Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol 102:957-962.
18. Pexieder T, Janeck P (1984): Organogenesis of the human embryonic and early fetal heart as studied by microdissection and SEM. In Nora J, Takao A (eds) "Congenital Heart Disease, Causes and Processes." Mount Kisco, NY: Futura, pp 401-422.
19. Polkinghorne J (1989): Review of the guidance on the research use of fetuses and fetal material. Her Majesty's Stationary Office, London, Cm762.
20. Snijders RJM, Johnson S, Sebire NJ, Noble PL, Nicolaides KH (1996): First trimester ultrasound screening for chromosomal defects. Ultrasound Obstet Gynecol 7:216-226.
21. Snijders RJM, Sebire NJ, Nicolaides KH (1995): Maternal age and gestational age specific risks for chromosomal defects. Fetal Diagn Ther 10:356-367.
22. Tubman TRJ, Shields MD, Craig BG, Mulholland HC, Nevin NC (1991): Congenital heart disease in Down's Syndrome: Two year prospective early screening study. Br Med J 302:1425-1427.
23. Van Praagh S, Truman T, Firpo A, Bano-Rodrigo A, Fried R, McManus B, Engle MA, Van Praagh R (1989): Cardiac malformations in trisomy 18: A study of 41 postmortem cases. J Am Coll Cardiol 13:1586-1597.
24. Van der Putte SCJ (1977): Lymphatic malformation in human fetuses. Virchows Arch Pathol Anat 376:233-246.