Jauniaux E, Kadri R, Hustin J
Academic Department of Obstetrics and Gynaecology, University College London Medical School, United Kingdom.
Obstet Gynecol. 1996 Oct;88(4 Pt 1):616-9. doi: 10.1016/0029-7844(96)00235-9.
To evaluate the role of histopathology in the categorization of women at risk of trophoblastic disease after early pregnancy failure associated with triploidy.
A retrospective study of histopathologic findings on 587 first-trimester spontaneous abortions for which both histologic and karyotype results were available. The incidence of chromosomal abnormalities and placental molar changes and the proportion of agreement for histologic diagnosis of triploidy were calculated.
An abnormal chromosome complement was found in 241 (41.1%) cases, including 75 (31.1%) with trisomy, 71 (29.5%) with triploidy, 60 (24.9%) with monosomy X, and 35 with other abnormalities. Molar transformations were found macroscopically in 20 triploidies, in six spontaneous abortions with a normal karyotype, in one trisomy, in one monosomy X, and in one tetraploidy. There was one complete hydatidiform mole. Complete agreement between two investigators was seen in 48 (67.6%) triploidy cases. Inter- and intra-observer degree of agreement for histologic diagnosis of triploidy was good to excellent. The sensitivity of histology ranged between 87.3 and 94.4%, the specificity between 81.7 and 85.9%, the positive predictive value between 83.1 and 86.1%, and the negative predictive value between 86.8 and 93.8%.
Triploidy is associated with molar changes less often in the first trimester of pregnancy than in the second or third trimester. Therefore, most triploid spontaneous abortions escape detection on the basis of ultrasound or macroscopic examination. The use of standardized criteria for detection by microscopic examination is both accurate and reproducible and should play a pivotal role in screening for women at risk of persistent gestational trophoblastic disease.
评估组织病理学在三倍体相关早期妊娠失败后滋养细胞疾病风险女性分类中的作用。
对587例有组织学和核型结果的孕早期自然流产的组织病理学发现进行回顾性研究。计算染色体异常和胎盘绒毛膜变化的发生率以及三倍体组织学诊断的一致比例。
241例（41.1%）病例发现染色体补体异常，包括75例（31.1%）三体、71例（29.5%）三倍体、60例（24.9%）X单体和35例其他异常。在20例三倍体、6例核型正常的自然流产、1例三体、1例X单体和1例四倍体中肉眼可见绒毛膜变性。有1例完全性葡萄胎。48例（67.6%）三倍体病例中两名研究者之间完全一致。三倍体组织学诊断的观察者间和观察者内一致性良好至优秀。组织学的敏感性在87.3%至94.4%之间，特异性在81.7%至85.9%之间，阳性预测值在83.1%至86.1%之间，阴性预测值在86.8%至93.8%之间。
三倍体在妊娠早期比妊娠中期或晚期与绒毛膜变化的相关性更低。因此，大多数三倍体自然流产通过超声或肉眼检查无法检测到。使用标准化标准进行显微镜检查检测既准确又可重复，应在筛查持续性妊娠滋养细胞疾病风险女性中发挥关键作用。
