diploid karyotype

  • 文章类型: Journal Article
    背景:单胎正常胎儿合并部分葡萄胎(PHM)妊娠是一种罕见现象。以前没有报道调查过这种情况下妊娠滋养细胞肿瘤(GTN)进展的危险因素。
    方法:我们在华西大学第二医院回顾性登记了单胎正常胎儿合并PHM妊娠的病例,四川大学,从2005年到2017年。其他病例在1975年至2021年期间从PubMed数据库中确定用于队列研究。Cox比例风险模型用于根据患者的临床特征评估GTN进展的危险因素。
    结果:总体而言,纳入36例PHM妊娠的单胎正常胎儿。中位随访4.0(0.8-12.0)个月后,9例(25.0%)患者进展为GTN。终止妊娠时的妊娠年龄(风险比[HR]0.88;95%置信区间[CI]0.78-0.99,p=0.032),甲状腺功能亢进(HR5.75;95%CI,1.16-28.50,p=0.032),和终止妊娠的原因(医学适应症与患者选择;HR0.25;95%CI,0.06-0.99,p=0.049)与GTN进展显著相关.终止妊娠时预测GTN未进展的孕龄受试者工作特征曲线(AUC)下面积为0.784(95%CI,0.615-0.903,p<0.001)。具有临床意义的临界值,也就是说,胎龄24周,通过综合考虑AUC的临界值和胎龄的临床意义来确定。
    结论:与终止妊娠的孕龄<24周相比,≥24周是GTN的保护因素。因此,有足够的证据继续怀孕,除了不受控制的严重并发症,不会增加GTN进展的风险。
    BACKGROUND: Singleton normal fetus with partial hydatidiform mole (PHM) pregnancy is a rare phenomenon. No previous reports have investigated the risk factors of gestational trophoblastic neoplasia (GTN) progression following this condition.
    METHODS: We retrospectively enrolled cases of singleton normal fetuses with PHM pregnancies at West China Second University Hospital, Sichuan University, from 2005 to 2017. Other cases were identified from PubMed databases during 1975 to 2021 for the cohort study. Cox proportional hazards models were applied to evaluate risk factors for GTN progression based on the patient\'s clinical characteristics.
    RESULTS: Overall, 36 cases of singleton normal fetuses with PHM pregnancies were enrolled. After a median follow-up of 4.0 (0.8-12.0) months, nine (25.0%) patients progressed to GTN. Gestational age at pregnancy termination (hazard ratio [HR] 0.88; 95% confidence interval [CI] 0.78-0.99, p = 0.032), hyperthyroidism (HR 5.75; 95% CI, 1.16-28.50, p = 0.032), and reasons for pregnancy termination (medical indications vs. patients\' choice; HR 0.25; 95% CI, 0.06-0.99, p = 0.049) were significantly correlated with GTN progression. Area under the receiver operating characteristic curve (AUC) of gestational age at pregnancy termination to predict non-progression to GTN was 0.784 (95% CI, 0.615-0.903, p < 0.001). A clinically significant cutoff value, that is, gestational age of 24 weeks, was determined by comprehensively considering the cutoff values of AUC and clinical significance of gestational age.
    CONCLUSIONS: Compared to gestational age of pregnancy termination <24 weeks, ≥24 weeks was a protective factor for GTN. Therefore, there is enough evidence to continue pregnancy, except for uncontrolled severe complications, without increasing the risk of GTN progression.
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  • 文章类型: Case Reports
    部分葡萄胎(MHP)代表了怀孕期间发生的一系列滋养细胞相关疾病。也被称为胚胎痣,它的特征是可识别的卵子异常,绒毛囊泡转化,但具有可识别的胎盘外观和包含胎儿的羊膜腔。妊娠早期自然流产最常提示诊断。部分痣很少持续超过妊娠早期,然后是母体和胎儿并发症和诊断混乱的原因。遗传起源的MHP是三倍体,具有父系起源的额外染色体。正常胎儿核型和MHP共存是例外的。我们报告了一例罕见的病例,该病例是一名36岁的女性,在闭经(WA)27周时被诊断为与前置胎盘相关的早产威胁。
    Partial hydatiform mole (MHP) represents a spectrum of trophoblastic-related disorders occurring during pregnancy. Also known as embryonal mole, it is characterized by a recognizable ovum abnormality with vesicular transformation of villi but with recognizable placental appearance and amniotic cavity containing the fetus. First-trimester spontaneous abortion most commonly suggests the diagnosis. Partial moles rarely persist beyond the first trimester and are then a cause of maternal and fetal complications and diagnostic confusion. MHP of genetic origin is triploid with extra chromosome of paternal origin. The coexistence of normal fetal karyotype and MHP is exceptional. We report a rare case of partial molar pregnancy with liveborn diploid fetus in a 36-year-old woman diagnosed with threat of premature labour associated with placenta previa at 27 weeks of amenorrhea (WA).
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