Prenatal diagnosis of mosaic trisomy 2: a case report / 中华围产医学杂志

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.