Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
11
03
2019
revised:
07
06
2019
accepted:
28
06
2019
pubmed:
6
7
2019
medline:
7
7
2020
entrez:
6
7
2019
Statut:
ppublish
Résumé
Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes. The overall risk that such a fetus presents a UPD has been previously estimated to be around ~0.6-0.8%. However, because UPD are rare events and this estimate has been calculated from a number of studies of limited size, we have reevaluated the risk of UPD in fetuses for whom one of the parents was known to carry a nonhomologous ROB (NHROB). We focused our multicentric study on NHROB involving chromosome 14 and/or 15. A total of 1747 UPD testing were performed in fetuses during pregnancy for the presence of UPD(14) and/or UPD(15). All fetuses were negative except one with a UPD(14) associated with a maternally inherited rob(13;14). Considering these data, the risk of UPD following prenatal diagnosis of an inherited ROB involving chromosome 14 and/or 15 could be estimated to be around 0.06%, far less than the previous estimation. Importantly, the risk of miscarriage following an invasive prenatal sampling is higher than the risk of UPD. Therefore, we do not recommend prenatal testing for UPD for these pregnancies and parents should be reassured.
Types de publication
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
986-992Informations de copyright
© 2019 John Wiley & Sons, Ltd.
Références
Driscoll DJ, Miller JL, Schwartz S, et al. Prader-Willi Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2019; 1998 Oct 6 [updated 2017 Dec 14].
Dagli AI, Mueller J, Williams CA. Angelman Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2019; 1998 Sep 15 [updated 2017 Dec 21].
Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB. American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Genet Med. 2001;3(3):206-211.
Robinson WP, Langlois S, Schuffenhauer S, et al. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn. 1996;16(9):837-844.
Ginsburg C, Fokstuen S, Schinzel A. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. AJMG. 2000;95(5):454-460.
Sensi A, Cavani S, Villa N, et al. Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. Prenat Diagn. 2004;24(8):647-652.
Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate. Prenat Diagn. 2002;22(8):649-651.
Ruggeri A, Dulcetti F, Miozzo M, et al. Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations. Prenat Diagn. 2004;24(12):997-1000.
Gualandi F, Sensi A, Trabanelli C, Falciano F, Bonfatti A, Calzolari E. Prenatal UPD testing survey in Robertsonian translocations. Prenat Diagn. 2000;20(6):465-468.
Berend SA, Horwitz J, McCaskill C, Shaffer LG. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am J Hum Genet. 2000 Jun;66(6):1787-1793. Epub 2000 Apr 19
Shaffer LG. Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation. Prenat Diagn. 2006;26(4):303-307.
Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. AJMG. 1980;6:137-143.
Créau-Goldberg N, Gegonne A, Delabar J, et al. Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism. Hum Genet. 1987;76(4):396-398.
Warburton D. Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes. AJHG. 1988;42:215-216.
Spence JE, Perciaccante RG, Greig GM, et al. Uniparental disomy as a mechanism for human genetic disease. AJHG. 1988;42:217-225.
Nicholls RD, Knoll JH, Butler MG, et al. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989;342(6247):281-285.
Malcolm S, Clayton-Smith J, Nichols M, et al. Uniparental paternal disomy in Angelman's syndrome. Lancet. 1991;337(8743):694-697.
Casamassima AC, Shapiro LR, Wilmot PL, Smith KB. Prader-Willi syndrome and Robertsonian translocations involving chromosome 15. Clin Genet. 1991;39:294-297.
Smith A, Noel M. A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(l4;15)(p11;q11) which was present in three normal family members. Hum Genet. 1980;55(2):271-273.
Berry AC, Whittingham AJ, Neville BGR. Chromosome 15 in floppy infants. Arch Dis Child. 1982;56:882-885.
Smith A, Robson L, Neumann A, et al. Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome. Clin Genet. 1993;43(1):5-8.
Liehr T. Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet. 2010;29:3-8.
Jay AM, Roberts E, Davies T, et al. Prenatal testing for uniparental disomy (UPD). Prenat Diagn. 2001;21(6):513.
Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16-26.
Bramswig NC, Buiting K, Bechtel N, Horsthemke B, Rostasy K, Wieczorek D. Angelman Syndrome-affected individual with a numerically normal karyotype and isodisomic paternal uniparental disomy of chromosome 15 due to maternal Robertsonian translocation (14;15) by Monosomy Rescue. Cytogenet Genome Res. 2018;18. https://doi.org/10.1159/000490838
Potok O. et al. Paternal uniparental isodisomy for chromosome 14 in a child with normal karyotype, resulting from malsegregation of maternal Robertsonian translocation, European Human Genetic Conference, Vienna, Austria, 2009; P03.147.
Cotter PD, Kaffe S, McCurdy LD, et al. Paternal uniparental disomy for chromosome 14: a case report and review. Am J Med Genet. 1997;70(1):74-79.
Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet. 1991;48(6):1069-1074.
Gross N, Rabinowitz R, Gross-Tsur V, et al. Prader-Willi syndrome can be diagnosed prenatally. Am J Med Genet A. 2015;167A:80-85.
Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions. EJHG. 2015;23(11):1488-1498.
Kagami M, Nagasaki K, Kosaki R, et al. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med. 2017;19:1356-1366.
Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385-395.