Genetic testing and analysis of 2 cases of trisomy 11 mosaicism.
10.12122/j.issn.1673-4254.2022.07.14
- Author:
Xiao Xiao XIE
1
;
Qing Dong ZHAO
1
;
Yu Rong FU
2
;
Wen Ling ZHANG
2
;
Yuan Guang MENG
1
;
Yan Ping LU
1
Author Information
1. Seventh Medical Center of Chinese PLA General Hospital, Department of Obstetrics and Gynecology, Beijing 100007, China.
2. First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.
- Publication Type:Journal Article
- Keywords:
confined placental mosaicism;
invasive prenatal testing;
noninvasive prenatal testing;
trisomy 11 mosaicism;
true fetal mosaicism
- MeSH:
Chromosome Disorders/diagnosis*;
DNA Copy Number Variations;
Female;
Genetic Testing;
Humans;
In Situ Hybridization, Fluorescence;
Infant, Newborn;
Mosaicism;
Placenta;
Pregnancy;
Prenatal Diagnosis;
Trisomy/genetics*
- From:
Journal of Southern Medical University
2022;42(7):1057-1061
- CountryChina
- Language:Chinese
-
Abstract:
Trisomy 11 mosaicism is clinically rare, for which making diagnostic and treatment decisions can be challenging. In this study, we used noninvasive prenatal testing, chromosome karyotype analysis, chromosome microarray analysis, copy number variation sequencing and fluorescence in situ hybridization for detecting trisomy 11 mosaicism in two cases and provided them with genetic counseling. In one of the cases, the fetus with confined placental mosaicism trisomy 11 presented with severe growth restriction and a placental mosaic level of 44%, and pregnancy was terminated at 25+3 weeks of gestation. In the other case with true low-level fetal mosaicism of trisomy 11, the pregnancy continued after exclusion of the possibility of uniparental disomy and structural abnormalities and careful prenatal counseling. The newborn was followed up for more than one year, and no abnormality was found. Noninvasive prenatal testing is capable of detecting chromosomal mosaicism but may cause missed diagnosis of true fetal mosaicism. For cases with positive noninvasive prenatal testing but a normal karyotype of the fetus, care should be taken in prenatal counseling and pregnancy management.
