Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Humans Female Pregnancy Williams Syndrome / diagnostic imaging DNA Copy Number Variations Retrospective Studies Fetal Growth Retardation Ultrasonography

Journal

Prenatal diagnosis

ISSN: 1097-0223

Titre abrégé: Prenat Diagn

Pays: England

ID NLM: 8106540

Informations de publication

Date de publication:
06 2023

Historique:

revised: 28 02 2023

received: 14 12 2022

accepted: 06 03 2023

medline: 12 6 2023

pubmed: 15 3 2023

entrez: 14 3 2023

Statut: ppublish

Résumé

We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes. We retrospectively recruited unrelated cases with 7q11.23 deletion, known as Williams-Beuren syndrome (WBS), or 7q11.23 duplication who had prenatal ultrasound findings. We collected laboratory and clinical data, fetal ultrasound, cardiac ultrasound and fetal autopsy reports from 18 prenatal diagnostic centers throughout France. 40 fetuses with WBS were collected and the most common features were intra-uterine growth retardation (IUGR) (70.0%, 28/40), cardiovascular defects (30.0%, 12/40), polyhydramnios (17.5%, 7/40) and protruding tongue (15.0%, 6/40). Fetal autopsy reports were available for 11 cases and were compared with ultrasound prenatal features. Four cases of fetuses with 7q11.23 microduplication were collected and prenatal ultrasound signs were variable and often isolated. This work strengthens the fact that 7q11.23 CNVs are associated with a broad spectrum of antenatal presentations. IUGR and cardiovascular defects were the most frequent ultrasound signs. By reporting the biggest series of antenatal WBS, we aim to better delineate distinctive signs in fetuses with 7q11.23 CNVs.

Identifiants

DOI: 10.1002/pd.6340 PMID: 36914926

pubmed: 36914926

doi: 10.1002/pd.6340

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Pagination

734-745

Informations de copyright

Références

Ferrero GB, Biamino E, Sorasio L, et al. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Eur J Med Genet. 2007;50(5):327-337. https://doi.org/10.1016/j.ejmg.2007.05.005

Bayés M, Magano LF, Rivera N, Flores R, A. Perez Jurado L. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet. 2003;73(1):131-151. https://doi.org/10.1086/376565

Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, et al. Metabolic abnormalities in Williams-Beuren syndrome. J Med Genet. 2015;52(4):248-255. https://doi.org/10.1136/jmedgenet-2014-102713

Yuan M, Deng L, Yang Y, Sun L. Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review. Ann Hum Genet. 2020;84(2):169-176. https://doi.org/10.1111/ahg.12360

Dang Y, Wan S, Zheng Y, et al. The prenatal diagnosis of seven fetuses with 7q11.23 microdeletion or microduplication. Fetal Pediatr Pathol. 2019;39(4):1-8. https://doi.org/10.1080/15513815.2019.1651802

Kontos H, Manolakos E, Malligiannis P, et al. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening. Prenat Diagn. 2008;28(6):556-558. https://doi.org/10.1002/pd.2020

Krzeminska D, Steinfeld C, Cloez JL, et al. Prenatal diagnosis of Williams syndrome based on ultrasound signs. Prenat Diagn. 2009;29(7):710-712. https://doi.org/10.1002/pd.2263

Marcato L, Turolla L, Pompilii E, et al. Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome. Clin Case Rep. 2014;2(2):25-32. https://doi.org/10.1002/ccr3.48

Popowski T, Vialard F, Leroy B, Bault JP, Molina-Gomes D. Williams-Beuren syndrome: the prenatal phenotype. Am J Obstet Gynecol. 2011;205(6):e6-e8. https://doi.org/10.1016/j.ajog.2011.09.017

Kobalka AJ, Mrak RE, Gunning WT. A case report of in utero Williams syndrome arterial malformation. Fetal Pediatr Pathol. 2017;36(6):452-456. https://doi.org/10.1080/15513815.2017.1379040

Huang R, Zhou H, Fu F, et al. Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis. Mol Cytogenet. 2022;15(1):27. https://doi.org/10.1186/s13039-022-00604-2

Srinivasan S, Howley LW, Cuneo BF, Chatfield KC. In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy. J Perinatol. 2018;38(11):1453-1456. https://doi.org/10.1038/s41372-018-0221-9

Collins RT, Kaplan P, Somes GW, et al. Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome. J Pediatr. 2010;156(2):253-258.e1. https://doi.org/10.1016/j.jpeds.2009.08.042

De Rubens Figueroa J, Rodríguez LMO, Hach JLP, et al. Cardiovascular spectrum in Williams-Beuren syndrome. Tex Heart Inst J. 2008;35(3):279-285.

Pasqua AD, Rinelli G, Toscano A, et al. New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. Cardiol Young. 2009;19(6):563-567. https://doi.org/10.1017/s1047951109990837

Honjo RS, Monteleone VF, Aiello VD, et al. Cardiovascular findings in Williams-Beuren syndrome: experience of a single center with 127 cases. Am J Med Genet. 2022;188(2):676-682. https://doi.org/10.1002/ajmg.a.62542

Li DY, Brooke B, Davis EC, et al. Elastin is an essential determinant of arterial morphogenesis. Nature. 1998;393(6682):276-280. https://doi.org/10.1038/30522

Metcalfe K, Rucka AK, Smoot L, et al. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet. 2000;8(12):955-963. https://doi.org/10.1038/sj.ejhg.5200564

Min S, Kinnear C, D’Alessandro LCA, et al. Genetic diagnosis and the severity of cardiovascular phenotype in patients with elastin arteriopathy [Internet]. Circ Genomic Precis Med. 2020;13(6). [cited 2022 Jun 2]. https://www.ahajournals.org/doi/10.1161/CIRCGEN.120.002971

Morris CA, Mervis CB, Paciorkowski AP, et al. 7q11.23 Duplication syndrome: physical characteristics and natural history. Am J Med Genet. 2015;167(12):2916-2935. https://doi.org/10.1002/ajmg.a.37340

Vayssière C, Sentilhes L, Ego A, et al. Fetal growth restriction and intra-uterine growth restriction: guidelines for clinical practice from the French College of Gynaecologists and Obstetricians. Eur J Obstet Gynecol Reprod Biol. 2015;193:10-18. https://doi.org/10.1016/j.ejogrb.2015.06.021

Brun S, Pennamen P, Mattuizzi A, et al. Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction. Prenat Diagn. 2018;38(13):1111-1119. https://doi.org/10.1002/pd.5372

Monier I, Receveur A, Houfflin-Debarge V, et al. Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study. Am J Obstet Gynecol. 2021;225(6):676.e1-676.e15. https://doi.org/10.1016/j.ajog.2021.05.035

Achiron R, Ben Arie A, Gabbay U, Mashiach S, Rotstein Z, Lipitz S. Development of the fetal tongue between 14 and 26 weeks of gestation: in utero ultrasonographic measurements: in utero tounge measurements. Ultrasound Obstet Gynecol. 1997;9(1):39-41. https://doi.org/10.1046/j.1469-0705.1997.09010039.x

Vanakker O, Vilain C, Janssens K, et al. Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. Eur J Med Genet. 2014;57(4):151-156. https://doi.org/10.1016/j.ejmg.2014.02.002

Urbán Z, Riazi S, Seidl TL, et al. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet. 2002;71(1):30-44. https://doi.org/10.1086/341035

Jiao Y, Li G, Korneva A, et al. Deficient circumferential growth is the primary determinant of aortic obstruction attributable to partial elastin deficiency. Arterioscler Thromb Vasc Biol. 2017;37(5):930-941. https://doi.org/10.1161/atvbaha.117.309079

Rudolph AM. Fetal and neonatal pulmonary circulation. Annu Rev Physiol. 1979;41(1):383-395. https://doi.org/10.1146/annurev.ph.41.030179.002123

Crockett SL, Berger CD, Shelton EL, Reese J. Molecular and mechanical factors contributing to ductus arteriosus patency and closure. Congenit Heart Dis. 2019;14(1):15-20. https://doi.org/10.1111/chd.12714

Battistoni G, Montironi R, Di Giuseppe J, et al. Foetal ductus arteriosus constriction unrelated to non-steroidal anti-Inflammatory drugs: a case report and literature review. Ann Med. 2021;53(1):860-873. https://doi.org/10.1080/07853890.2021.1921253

Parrott A, James J, Goldenberg P, et al. Aortopathy in the 7q11.23 microduplication syndrome. Am J Med Genet. 2015;167(2):363-370. https://doi.org/10.1002/ajmg.a.36859

Van der Aa N, Rooms L, Vandeweyer G, et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet. 2009;52(2-3):94-100. https://doi.org/10.1016/j.ejmg.2009.02.006