Prenatal diagnosis of a fetus with mosaic trisomy 2 and uniparental disomy of chromosome 2
10.3760/cma.j.cn113903-20230817-00132
- VernacularTitle:产前诊断嵌合型2号染色体三体合并单亲二体胎儿1例
- Author:
Sufen ZHANG
1
;
Xiaojun MENG
;
Gefei XIAO
Author Information
1. 珠海市妇幼保健院医学遗传与产前诊断科，珠海 519000
- Keywords:
Chromosomes, human;
Trisomy;
Chimera;
Uniparental disomy;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2024;27(2):154-157
- CountryChina
- Language:Chinese
-
Abstract:
This paper presented the prenatal genetic analysis of a case of mosaic trisomy 2 combined with uniparental disomy 2. The pregnant women underwent non-invasive prenatal testing in Zhuhai Center for Maternal and Child Health Care on February 2019, which indicated an increased number of chromosome 2. Subsequently, amniocentesis was performed at 21 +2 weeks for prenatal diagnosis. No abnormalities were detected through the karyotype analysis of amniotic fluid cells. Chromosome microarray analysis of uncultured amniotic fluid cells revealed a duplication of 2.3 copies in chromosome 2 and 64.3 Mb regions of homozygosity in the 2q21.2q33.1 region. The comparison of single nucleotide information on fetus-parent chromosome 2 showed that the regions of homozygosity of the fetal 2q21.2q33.1 was paternal uniparental isodisomy (2), with the rest of chromosome 2 being paternal uniparental heterodisomy (2).Ultrasound results at 27 +6, 31 +6, and 34 +5 weeks of gestation showed continued exacerbation of fetal growth retardation with placental abnormalities and fetal blood flow spectrum abnormalities. Due to threatened preterm delivery at 35 +3 weeks, The pregnant woman chose to give up the fetus and delivered a stillbirth.
