Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line

Abstract

OBJECTIVE: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line. CASE REPORT: A 36-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XY,+21 [3]/46,XY [17] (15% mosaicism) and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (21) × 2∼3 (X,Y) × 1, consistent with 24.5% mosaicism for trisomy 21. Cordocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XY,+21 [3]/46,XY [37] (6% mosaicism). She was referred for genetic counseling at 31 weeks of gestation, and continuing the pregnancy was advised. The parental karyotypes and prenatal ultrasound were normal. At 37 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 2900-g. The karyotypes of cord blood, umbilical cord and placenta were 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), 47,XY,+21 [10]/46,XY [30] (25% mosaicism) and 47,XY,+21 [22]/46,XY [18] (55% mosaicism), respectively. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods excluded uniparental disomy (UPD) 21 and revealed a maternal origin of the extra chromosome 21. When follow-up at the age of 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), and interphase fluorescence in situ hybridization (FISH) analysis on uncultured buccal mucosal cells revealed 4.7% (5/105 cells) mosaicism for trisomy 21, compared with 0% (5/100 cells) in the normal control. CONCLUSION: Low-level mosaic trisomy 21 at amniocentesis and cordocentesis can be associated with favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.