Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy.
Amniocentesis
Mosaic trisomy 18
Mosaicism
Prenatal diagnosis
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:
Jul 2022
Jul 2022
Historique:
accepted:
12
05
2022
entrez:
2
7
2022
pubmed:
3
7
2022
medline:
7
7
2022
Statut:
ppublish
Résumé
We present prenatal diagnosis of mosaic trisomy 18 by amniocentesis associated with a favorable fetal outcome in a pregnancy. A 42-year-old, gravida 4, para 2, woman underwent amniocentesis at 18 weeks of gestation because advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+18[6]/46,XX[17]. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes showed the result of 45% mosaicism for trisomy 18. At 25 weeks of gestation, the woman underwent repeat amniocentesis which revealed a karyotype of 47,XX,+18[10]/46,XX[24]. Simultaneous aCGH on uncultured amniocytes showed the result of arr 18p11.32q23 (148,963-78,012,829) × 2.3 [GRCh (hg19)] with a log Mosaic trisomy 18 at amniocentesis without abnormal fetal ultrasound can be associated with a favorable outcome, and the abnormal trisomy 18 cell line may decrease progressively after birth.
Identifiants
pubmed: 35779923
pii: S1028-4559(22)00157-7
doi: 10.1016/j.tjog.2022.05.006
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
690-694Informations de copyright
Copyright © 2022. Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors have no conflicts of interest relevant to this article.