Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome

Prenatal Diagnosis

Volumn 35, Issue 4, 2015, Pages 394-399

  Kagan, Karl Oliver ^a   Berg, Christoph ^b,c   Dufke, Andreas ^a   Geipel, Annegret ^b   Hoopmann, Markus ^a   Abele, Harald ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN;

ABDOMINAL WALL DEFECT; ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; BIOMETRY; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FEMUR; FETUS ECHOGRAPHY; GENE MUTATION; GERMANY; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HYDRAMNIOS; MACROGLOSSIA; OVARY HYPERSTIMULATION; OVARY POLYCYSTIC DISEASE; PANCREAS ISLET CELL HYPERPLASIA; PLACENTA DISORDER; PLACENTOMEGALY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SECOND TRIMESTER PREGNANCY; TERTIARY CARE CENTER; UMBILICAL HERNIA; VISCEROMEGALY; YOUNG ADULT; COMPLICATION; ECHOGRAPHY; FETUS; GENETICS; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS; PROCEDURES;

ADULT; BECKWITH-WIEDEMANN SYNDROME; FEMALE; FETUS; GERMANY; HUMANS; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS; PREGNANCY OUTCOME; PREGNANCY TRIMESTER, SECOND; RETROSPECTIVE STUDIES; ULTRASONOGRAPHY, PRENATAL;

EID: 84926247694     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4555     Document Type: Article

References (28)

1. Wiedemann HR. [Familial malformation complex with umbilical hernia and macroglossia-a "new syndrome?"]. J Genet Hum 1964;13:223-32.
2. Beckwith JB. Extreme cytomegaly of the adrenal fetal cortex, hyperplasia of the kidneys and pancreas, and Leydig-cell hyperplasia: another syndrome? Annual Meeting of Western Society for Pediatric Research, Los Angeles, CA, November 1963.
3. Elliott M, Maher ER. Beckwith-Wiedemann syndrome. J Med Genet. 1994;31(7):560-4.
4. Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet 2005;137C(1):12-23.
5. Wilson M, Peters G, Bennetts B, et al. The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports. Am J Med Genet 2008;146A(2):137-48.
6. Choufani S, Shuman C, Weksberg R. Molecular findings in Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2013;163C(2):131-40.
7. Scott RH, Douglas J, Baskcomb L, et al. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J Med Genet 2008;45(2):106-13.
8. Slavotinek A, Gaunt L, Donnai D. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J Med Genet 1997;34(10):819-26.
9. Brioude F, Lacoste A, Netchine I, et al. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Horm Res Paediatr 2013;80(6):457-65.
10. Aagaard-Tillery KM, Buchbinder A, Boente MP, Ramin KD. Beckwith-Wiedemann syndrome presenting with an elevated triple screen in the second trimester of pregnancy. Fetal Diagn Ther 2007;22(1):18-22.
11. Magann E. The amniotic fluid index, single deepest pocket, and two-diameter pocket in normal human pregnancy. Am J Obstet Gynecol 2000;182(6):1581-8.
12. Raio L, Ghezzi F, Cromi A, et al. The thick heterogeneous (jellylike) placenta: a strong predictor of adverse pregnancy outcome. Prenat Diagn 2004;24(3):182-8.
13. Nayeri UA, West AB, Grossetta Nardini HK, et al. Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome. Ultrasound Obstet Gynecol 2013;41(4):366-74.
14. Davey DA, MacGillivray I. The classification and definition of the hypertensive disorders of pregnancy. Am J Obstet Gynecol 1988;158(4):892-8.
15. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010;18(1):8-14.
16. Snijders RJM, Nicolaides KH. Fetal biometry at 14-40 weeks' gestation. Ultrasound Obstet Gynecol 1994;4(1):34-48.
17. Fratelli N, Papageorghiou AT, Bhide A, et al. Outcome of antenatally diagnosed abdominal wall defects. Ultrasound Obstet Gynecol 2007;30(3):266-70.
18. Porter A, Benson CB, Hawley P, Wilkins-Haug L. Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele. Prenat Diagn 2009;29(7):668-73.
19. Kuwata T, Takahashi H, Matsubara S. "Stained-glass" sign for placental mesenchymal dysplasia. Ultrasound Obstet Gynecol 2013;43(3):355.
20. Walton DL, Norem CT, Schoen EJ, et al. Second-trimester serum chorionic gonadotropin concentrations and complications and outcome of pregnancy. N Engl J Med 1999;341(27):2033-8.
21. Ree PH, Hahn WB, Chang SW, et al. Early detection of preeclampsia using inhibin a and other second-trimester serum markers. Fetal Diagn Ther 2011;29(4):280-6.
22. Chandra S. Unexplained elevated maternal serum α-fetoprotein and/or human chorionic gonadotropin and the risk of adverse outcomes. Am J Obstet Gynecol 2003;189(3):775-81.
23. Lieppman RE, Williams MA, Cheng EY, et al. An association between elevated levels of human chorionic gonadotropin in the midtrimester and adverse pregnancy outcome. Am J Obstet Gynecol 1993;168(6 Pt 1):1852-6.
24. Hatada I, Nabetani A, Morisaki H, et al. New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet 1997;100(5-6):681-3.
25. Li M, Squire J, Shuman C, et al. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics 2001;74(3):370-6.
26. Enklaar T, Zabel BU, Prawitt D. Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med 2006;8(17):1-19.
27. Debaun M, Niemitz E, Mcneil D, et al. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002;70(3):604-11.
28. Bliek J, Alders M, Maas SM, et al. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. Eur J Hum Genet 2009;17(12):1625-34.