Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a pregnancy with a favorable outcome.

Abstract:

OBJECTIVE:We present prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis with a favorable outcome. CASE REPORT:A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a result of 47,XY,+11[1]/46,XY[9]. In 10 colonies of cultured amniocytes, all five cells in one colony had a karyotype of trisomy 11, while the rest nine colonies had a normal karyotype. The parental karyotypes were normal. Repeat amniocentesis was performed at 19 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) was applied on the uncultured amniocytes, and the result showed no trisomy 11 signals in 56/56 uncultured amniocytes. Uniparental disomy (UPD) 11 was excluded by polymorphic DNA marker analysis. The cultured amniocytes at repeat amniocentesis had a karyotype of 46,XY. Prenatal ultrasound findings were unremarkable. A healthy 3084-g male baby was delivered at 38 weeks of gestation. The karyotype of cord blood lymphocytes was 46,XY. The boy was phenotypically normal at age 10 months at follow-ups. The interphase FISH analysis on urinary cells revealed no trisomy 11 signal. CONCLUSION:Mosaicism for trisomy 11 in a single colony at amniocentesis without UPD 11 can be associated with a favorable outcome.

authors

Chen CP,Weng SL,Chern SR,Wu PS,Chen SW,Wu FT,Lee MS,Wang W

doi

10.1016/j.tjog.2020.01.027

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

331-333

issue

2

eissn

1028-4559

issn

1875-6263

pii

S1028-4559(20)30027-9

journal_volume

59

pub_type

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