Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome.
Amniocentesis
Intrauterine growth restriction
Mosaicism
Prenatal diagnosis
Trisomy 16
Journal
Taiwanese journal of obstetrics & gynecology
ISSN: 1875-6263
Titre abrégé: Taiwan J Obstet Gynecol
Pays: China (Republic : 1949- )
ID NLM: 101213819
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
accepted:
14
12
2020
entrez:
8
3
2021
pubmed:
9
3
2021
medline:
22
9
2021
Statut:
ppublish
Résumé
We present low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome. A 31-year-old woman underwent amniocentesis at 24 weeks of gestation because of IUGR. Amniocentesis revealed a karyotype of 47,XX,+16 [3]/46,XX [22]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed gene dosage increase in chromosome 16 consistent with 28% mosaicism for trisomy 16. Uniparental disomy (UPD) 7 and UPD 11 were excluded. She underwent repeat amniocentesis at 27 weeks of gestation. Repeat amniocentesis revealed a karyotype of 47,XX,+16 [1]/46,XX [24]. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed 25%-35% (log Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes may present in mosaic trisomy 16 at amniocentesis. Low-level mosaicism for trisomy 16 at amniocentesis without maternal UPD 16 can be associated with a favorable outcome despite the presence of IUGR.
Identifiants
pubmed: 33678340
pii: S1028-4559(21)00014-0
doi: 10.1016/j.tjog.2021.01.014
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
345-349Informations de copyright
Copyright © 2021. Published by Elsevier B.V.