Harris Birthright Centre for Fetal Medicine, Kings' College Hospital, London, UK.
Prenat Diagn. 2010 Apr;30(4):329-32. doi: 10.1002/pd.2457.
To describe the outcome of pregnancies with trisomy 2 in cultures of first-trimester chorionic villous samples (CVS) and determine whether amniocentesis is necessary in the management of such cases.
Cultures of chorionic villi were performed at 11-13 weeks in 37 474 pregnancies. In those with trisomy 2 cells, amniocentesis was performed at 16 weeks. Pregnancy outcome was obtained from maternity records.
Trisomy 2 cells in CVS cultures were observed in 45 of 37 474 pregnancies (1.2 per 1000). In 43 cases ultrasound examination at 16-20 weeks showed no fetal abnormalities, amniocentesis demonstrated the presence of only normal cells, and all 43 pregnancies ended in normal healthy live births. The birth weight was below the 5th centile in six neonates (13.9%). There was a significant association between the birth weight centile and the percentage of trisomic cells in the CVS culture (r = 0.409, p = 0.010). In one case, there was fetal death at 15 weeks. In a second case, amniocentesis showed one cell with trisomy 2 in a total of 53 cells, and ultrasound examination at 18 weeks showed severe fetal growth restriction and coarctation of the aorta.
In at least 95% of cases with trisomy 2 in CVS cultures there is confined placental mosaicism (CPM). The prognosis is good, but in about 15% of cases there is fetal growth restriction.
描述首例妊娠绒毛取样（CVS）培养中三体 2 妊娠的结局，并确定在这种情况下是否需要羊膜穿刺术来管理。
对 37474 例妊娠的 11-13 周绒毛进行培养。在存在三体 2 细胞的情况下，在 16 周进行羊膜穿刺术。妊娠结局从产科记录中获得。
在 37474 例妊娠中，有 45 例（1.2/1000）的 CVS 培养中观察到三体 2 细胞。在 43 例中，16-20 周的超声检查未显示胎儿异常，羊膜穿刺术仅显示正常细胞，所有 43 例妊娠均以正常健康活产结束。6 名新生儿（13.9%）的出生体重低于第 5 百分位。在 CVS 培养中三体细胞的百分比与出生体重百分位之间存在显著相关性（r = 0.409，p = 0.010）。在一例中，胎儿在 15 周死亡。在另一例中，羊膜穿刺术显示 53 个细胞中有一个细胞为三体 2，18 周的超声检查显示严重的胎儿生长受限和主动脉缩窄。
在至少 95%的首例妊娠绒毛取样（CVS）培养中存在三体 2 的情况下，存在局限于胎盘的嵌合体（CPM）。预后良好，但约 15%的病例存在胎儿生长受限。
