Department of Obstetrics and Gynecology, Jichi Medical University, Tochigi, Japan.
J Obstet Gynaecol Res. 2024 Sep;50(9):1737-1741. doi: 10.1111/jog.16035. Epub 2024 Aug 6.
A 31-year-old primiparous woman underwent non-invasive prenatal testing. The result was trisomy 13 (T13) positive. The chromosome 13 t-statistics (Z-score) was significantly high. The result of amniocentesis was normal karyotype (46,XX). Detailed ultrasound showed no fetal structural abnormalities. We suspected T13 confined placental mosaicism (CPM) and observed the course naturally. From the late second trimester, severe fetal growth restriction manifested followed by proteinuria and hypertension, diagnosing her with preeclampsia (PE). At 35 + 5 weeks, emergent cesarean section was required, yielding a 1480 g female infant. We sampled five locations of chorionic villi in the placenta. T13 cells dominated cells with normal karyotypes in all parts and the rate of trisomic cells ranged from 57% to 96%, which were generally high rate. None developed PE in reported T13 CPM cases and this is the first case of PE. The dominancy of T13 cells can be associated with PE development.
一位 31 岁初产妇接受了无创性产前检测。结果显示三体 13(T13)阳性。13 号染色体 t 统计量(Z 评分)显著升高。羊膜穿刺术结果正常核型(46,XX)。详细的超声检查未发现胎儿结构异常。我们怀疑 T13 局限于胎盘嵌合体(CPM),并自然观察其病程。从中孕期晚期开始,出现严重的胎儿生长受限,随后出现蛋白尿和高血压,诊断为子痫前期(PE)。在 35+5 周时,需要紧急剖宫产,娩出 1480 克女婴。我们在胎盘的五个部位取样绒毛膜绒毛。T13 细胞在所有部位均以正常核型细胞为主,三体细胞的比例为 57%至 96%,通常比例较高。在报道的 T13 CPM 病例中没有发生 PE,这是首例 PE。T13 细胞的优势可能与 PE 的发生有关。