Department of Medical Genetics, Pellegrin University Hospitals (Maternity), Bordeaux, France.
Prenat Diagn. 2010 Dec;30(12-13):1155-64. doi: 10.1002/pd.2631.
To study the influence of types 2 and 3 confined placental mosaicism (CPM) on pregnancy outcome.
From 13 809 chorionic villus samplings (CVSs), karyotype after long-term cultured villi (LTC-villi) was systematically performed. Next, in case of suspicion of CPM, karyotype after short-term cultured villi (STC-villi) was established to define type 2 CPM (chromosomal abnormality limited to the mesenchymal core) or type 3 CPM (chromosomal abnormality found both in the cytotrophoblast and the mesenchymal core). Confirmatory amniocentesis was performed to exclude fetal mosaicism. Uniparental disomy (UPD) testing was carried out when the abnormal cell line involved chromosomes 5, 6, 7, 15 or 16.
Fifty-seven CPM cases were observed (57/13 809 = 0.41%) and of these, 37 were type 2 and 20 were type 3 CPM. Incidence of preterm infants, neonatal hypotrophy and adverse pregnancy outcome were comparable between patients in whom type 2 CPM was demonstrated and the control population. In contrast, for the type 3 CPM the incidence of these factors was higher than for the control population.
When a CPM is suspected, it appears essential to determine type, since type 2 has no effect on fetal development and type 3 is associated with preterm infants, low birth weight and adverse pregnancy outcome.
研究 2 型和 3 型局限胎盘嵌合体（CPM）对妊娠结局的影响。
对 13809 例绒毛膜绒毛取样（CVS）进行长期培养绒毛（LTC-绒毛）核型分析。接下来，在怀疑 CPM 的情况下，建立短期培养绒毛（STC-绒毛）核型以确定 2 型 CPM（仅限于间质核心的染色体异常）或 3 型 CPM（在滋养细胞和间质核心中均发现染色体异常）。进行确认性羊膜穿刺术以排除胎儿嵌合体。当异常细胞系涉及染色体 5、6、7、15 或 16 时，进行单亲二体性（UPD）检测。
观察到 57 例 CPM 病例（57/13809=0.41%），其中 37 例为 2 型 CPM，20 例为 3 型 CPM。与对照组相比，在证实 2 型 CPM 的患者中，早产儿、新生儿低体重和不良妊娠结局的发生率无差异。相反，对于 3 型 CPM，这些因素的发生率高于对照组。
当怀疑存在 CPM 时，确定类型似乎至关重要，因为 2 型对胎儿发育没有影响，而 3 型与早产儿、低出生体重和不良妊娠结局相关。
