Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader-Willi syndrome caused by trisomy rescue in the neonatal period.
Prader-Willi syndrome
chromosome 15
confined placental mosaicism
noninvasive prenatal testing
trisomy rescue
Journal
The journal of obstetrics and gynaecology research
ISSN: 1447-0756
Titre abrégé: J Obstet Gynaecol Res
Pays: Australia
ID NLM: 9612761
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
revised:
14
01
2022
received:
06
09
2021
accepted:
14
03
2022
pubmed:
25
3
2022
medline:
11
8
2022
entrez:
24
3
2022
Statut:
ppublish
Résumé
We report a case of a neonatal diagnosis of Prader-Willi syndrome caused by uniparental disomy. A 34-year-old pregnant woman underwent noninvasive prenatal testing (NIPT) in a hospital that was not certified by the Japanese Association of Medical Sciences. The results of trisomy 13, 18, and 21 were negative; however, a possible abnormality in chromosome 15 was indicated by the Z-score. Genetic counseling was not performed; thus, the woman did not understand the implication of this result. Therefore, she continued with the pregnancy and delivered a boy weighing 1892 g with hypogonadism at 38 weeks and 5 days. The infant was diagnosed with Prader-Willi syndrome caused by uniparental disomy derived from trisomy rescue. The NIPT results may have reflected placental mosaicism, emphasizing the importance of understanding the limitations of NIPT due to the presence of congenital chromosomal abnormalities that cannot be detected by NIPT platforms.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
2214-2218Informations de copyright
© 2022 Japan Society of Obstetrics and Gynecology.
Références
Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome. Genet Med. 2012;14:10-26.
Matsubara K, Murakami N, Nagai T, Ogata T. Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. J Hum Genet. 2011;8:566-71.
Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009;17:3-13.
Dong Y, Liu S, Li J, et al. Possibility of early diagnosis in a fetus affected by Prader-Willi syndrome with maternal hetero-UPD15: a lesson to be learned. Mol Med Rep. 2019;20:95-102.
Ishmael HA, Pasztor LM, Rothberg PG, et al. Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy. J Pediatr. 2000;136:135-6.
Laugel V, Cossée M, Matis J, et al. Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. Eur J Pediatr. 2008;167:517-23.
Moradkhani K, Cuisset L, Boisseau P. 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? Prenat Diagn. 2019;39:986-92.
Yip M-Y. Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing. Transl Pediatr. 2014;3:98-107.
Samura O. Update on noninvasive prenatal testing: a review based on current worldwide research. J Obstet Gynaecol Res. 2020;46:1246-54.
Mardy A, Wapner RJ. Confined placental mosaicism and its impact on confirmation of NIPT results. Am J Med Genet C Semin Med Genet. 2016;172:118-22.
Sago H, Sekizawa A, Japan NIPT consortium. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience. Prenat Diagn. 2015;35:331-6.
Caldwell S, Sagaser K, Nelson Z, et al. Deletion rescue resulting in segmental homozygosity: a mechanism underlying discordant NIPT results. Am J Med Genet. 2020;182:2666-70.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86:749-64.
Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol. 2016;215:B2-9.