Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction
Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction
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DOI：
10.1111/jog.12145
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发表时间：
2014-01-01
影响因子：
1.6
通讯作者：
Kozuma, Shiro
中科院分区：
文献类型：
--
作者：
Nagamatsu, Takeshi;Kamei, Yoshimasa;Kozuma, Shiro
局限性胎盘嵌合体（CPM）的临床结局多种多样，从正常妊娠到胎儿宫内死亡。有研究表明，CPM治疗2三体对妊娠造成严重不良影响的可能性较小。我们在此报告一例CPM的三体2，提出了严重的胎儿生长受限（FGR）和胎盘异常。一名30岁的妇女在17（+2）周时因明显的FGR被转诊到我院。超声检查显示胎盘肥大伴多处局灶性缺损，无任何胎儿结构异常。18（+3）周羊膜穿刺术显示核型正常。随着孕周的增加，胎儿生长速度恶化，在36周时达到-7标准差。37周时，胎儿状况突然恶化，最终产下一名756克重的女婴。通过阵列比较基因组杂交进行的出生后细胞遗传学分析显示绒毛膜绒毛为2三体，并且2三体的CPM被认为是FGR和胎盘异常的原因。
Clinical outcome of confined placental mosaicism (CPM) is varied, from normal pregnancy to intrauterine fetal death. It has been suggested that CPM for trisomy 2 is less likely to cause serious adverse effect on pregnancy. We hereby report a case of CPM for trisomy 2, which presented severe fetal growth restriction (FGR) and placental abnormalities. A 30-year-old woman was referred to our hospital at 17(+2) weeks because of marked FGR. Ultrasonography demonstrated prominent placental hypertrophy with multiple focal defects without any fetal structural abnormalities. Amniocentesis at 18(+3) weeks revealed normal karyotype. Fetal growth rate worsened with gestational weeks, reaching -7 standard deviation at 36 weeks. At 37 weeks, the fetal condition suddenly deteriorated, ending in a stillbirth of a 756-g female baby. Postnatal cytogenetic analysis by array comparative genomic hybridization revealed trisomy 2 of the chorionic villi, and CPM for trisomy 2 was suggested as the cause of FGR and placental abnormalities.