Prenatal diagnosis of mosaic trisomy 2: a case report
10.3760/cma.j.issn.1007-9408.2019.06.005
- VernacularTitle:产前诊断嵌合型2-三体一例
- Author:
Yanzhen ZHANG
1
;
Lidan ZHANG
;
Sha LU
;
Jiansong GAO
;
Hao WANG
;
Yiming CHEN
Author Information
1. 杭州市妇产科医院产前诊断中心 310008
- Keywords:
Trisomy;
Chromosomes,human,pair 2;
Chimera;
Prenatal diagnosis;
Amniocentesis;
Abnormalities,multiple
- From:
Chinese Journal of Perinatal Medicine
2019;22(6):397-399
- CountryChina
- Language:Chinese
-
Abstract:
We reported a case of mosaic trisomy 2.The patient was a 29-year-old gravida who underwent amniocentesis at 20 weeks of gestation because of high risk of trisomy-21 in the first trimester screening.The test result revealed a karyotype of 47,XN,+2[10]/46,XX[40].At 26 gestational weeks,the fetus was found severe fetal growth restriction and oligohydramnios which was considered to be at risk of mosaic trisomy 2.The pregnancy was terminated at 27+ gestational weeks.The fetus had obviously abnormal appearances,including dolichocephaly,low-set ears,and micromandible.Autopsy was not performed due to the parents' refusal.
