2018年 · 第53卷第06期

Gestational trophoblastic disease (GTD) is a group of tumor-like lesions derived from the abnormal proliferation of placental trophoblastic cells, which can be divided into benign hydatidiform mole and malignant gestational trophoblastic tumor (GTN). GTN includes the more common erosive hydatidiform mole, choriocarcinoma, and the less common placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT). In recent years, with the deepening of people's understanding of the biological behavior of GTN and the further development and improvement of clinical diagnostic technology and chemotherapy drugs, the cure rate of low-risk patients with GTN can almost reach 100% after standardized treatment, and the cure rate of high-risk patients with GTN can also reach more than 90%. However, there are still irregular behaviors in the diagnosis and treatment of GTN in clinic, which leads to misdiagnosis and mistreatment of some patients, as well as the occurrence of drug resistance and critical illness. In addition, since most of the patients with GTN are young women with fertility requirements, these patients also want to protect their fertility and physiological functions as much as possible while receiving chemotherapy. This topic will focus on the clinical issues related to the diagnosis and treatment of GTD.

Perimenopause is the period before and after menopause, which is usually marked by related symptoms, such as hot flashes, menstrual disorders, etc^[1]。 Although the average age of menopause is 49 to 51 years old^[2,3], but perimenopausal onset age, duration, and bleeding patterns vary greatly. Definition of abnormal uterine bleeding (AUB)^[4,5,6]Yes: Bleeding beyond the normal menstrual flow, duration, regularity, or frequency. AUB is a landmark event in perimenopause, accounting for more than 70% of all gynecological consultations for perimenopausal patients^[7]The incidence rate is high and the etiology is complex, but the diagnosis and treatment are not standardized, and there is no authoritative guideline or consensus at home and abroad. The menopausal group of the obstetrics and gynecology branch of Chinese medical association classified the etiology of AUB by the international union of obstetrics and gynecology (FIGO)^[5]For the basis, refer to the 2014 Guidelines for Diagnosis and Treatment of Abnormal Uterine Bleeding for Women of Childbearing Age^[8]This consensus was specially formulated to provide reference for obstetricians and gynecologists, emphasizing the characteristics of the disease in the perimenopausal stage.

placental chorioangioma (placental chorioangioma) is one of the common benign tumors of non-trophoblastic origin in the placenta. It originates from the early villus mesenchyma and is mainly composed of blood vessels and connective tissue. The literature reports that the incidence of placental chorionic hemangioma is approximately 1%^[1]； Reshetnikova et al.^[2]It was found that the incidence of placental chorionic hemangioma is associated with altitude and may be related to the overexpression of vascular endothelial growth factor caused by hypobaric hypoxia. Most placental chorionic hemangiomas have no obvious adverse effects on mother and child, but the large placental chorionic hemangiomas, located close to the root of the umbilical cord and with abundant blood supply, are associated with the occurrence of maternal and infant complications, such as polyhydramnios, premature delivery, fetal anemia, fetal edema and even stillbirth^[1]The pathophysiological mechanism of the above complications is still unclear; However, early diagnosis, close prenatal monitoring and timely termination of pregnancy can improve perinatal outcomes. This paper retrospectively analyzed the management and pregnancy outcome of 57 pregnant women with placental chorionic hemangioma admitted to the Hospital of Obstetrics and Gynecology affiliated to Zhejiang University School of Medicine, and discussed the monitoring and treatment of pregnant women with placental chorionic hemangioma during pregnancy, so as to summarize the experience for improving maternal and infant outcomes.

Norrie disease is a rare X-linked recessive genetic disease with congenital blindness as the main clinical manifestation, diverse ocular phenotypes and infancy onset. The initial manifestation of Norrie disease is the proliferation of fibrous tissue mass behind the lens, which gradually develops into cataract, anterior or posterior iris adhesion, iris atrophy, corneal opacity, retinal detachment, eye atrophy, etc. Some patients are also accompanied by neurological deafness, abnormal mental behavior and mental retardation^[1]。 Norrin disease is caused by mutations in the Norrin disease protein (NDP) gene. The NDP gene is located in Xp11.4 and contains three exons. Exon 1 is a non-coding region, which has gene regulatory function, and exons 2 and 3 are coding regions, which encode NDP^[2]。 At present, there are 165 pathogenic mutations of NDP gene reported in the human gene mutation database, of which the majority are missense mutations and nonsense mutations in exons 2 and 3^[3]。 In this study, the NDP gene of a family member of Norrie disease was screened, and the pathogenic mutation of NDP gene in this family of Norrie disease was investigated. The relationship between genotype and phenotype was elucidated, and the molecular diagnosis basis was provided for the prepregnancy guidance of family members of childbearing age.

Pregnant woman 29 years old, pregnant 2 giving birth 1, September 16, 2016 due to "30 weeks of menopause⁺⁴The pregnant woman gave birth to a healthy girl naturally in 2009, and this pregnancy was conceived naturally. On August 1, 2016, at 24 weeks of pregnancy, color ultrasound in another hospital showed that the fetus had a small abdominal cyst. Color ultrasound in our hospital showed that the fetus had a small abdominal cyst on the left side; MRI showed that the fetus had mixed signals on the left side of the middle and upper abdomen, and space-occupying lesions, about 3.1 cm ×3.3 cm ×3.3 cm in size, mainly cystic. Preliminary diagnosis "Teratoma? fetus in fetu (FIF)?". 40 weeks gestation⁺⁴The pregnant woman gave birth to a baby boy naturally. The birth weight of the newborn was 3 200 g, and the 1-minute Apgar score was 10. She was transferred to neonatal surgery due to suspected diagnosis of "FIF". CT examination of the newborn on the day of birth showed: FIF, seeFigure 1。 The newborn underwent exploratory laparotomy under general anesthesia 3 days after birth. FIF was located behind the left upper abdominal mesentery, and it was a solid mass of amniotic membrane, about 8.0 cm ×7.0 cm ×4.0 cm in size. The limbs, trunk and pale yellow clear fluid of FIF were visible through the capsule. When the capsule was opened and the edematous FIF was removed, the lower limbs and abdomen were visible, but the head, neck and upper limb structures were not visible. SeeFigure 2。

Single-gene genetic disease is a genetic disease caused by mutation of a single gene in homologous chromosome (dominant genetic disease) or mutation of a pair of alleles (recessive genetic disease), which is not affected by environmental factors, also called Mendelian genetic disease. Monogenic genetic diseases are mostly rare diseases, but there are many kinds, reaching more than 10 000. If the incidence of these tens of thousands of monogenic genetic diseases is accumulated, the overall incidence of monogenic genetic diseases can reach 2% ~3%^[1]Because single-gene genetic diseases often cause death, disability, and are difficult to treat, they will have a great impact on the quality of life of patients. Prenatal diagnosis is particularly important to prevent the birth of children with single-gene genetic diseases.

pre-eclampsia (PE) is an obstetric syndrome that occurs in the middle and third trimester of pregnancy. The main clinical manifestations are hypertension and proteinuria, which may be accompanied by multiple organ dysfunction. It is one of the important causes of maternal and perinatal fetal death^[1]。 It is of great significance for the prevention and treatment of PE to make early prediction before the onset of PE and intervene in the development of PE. Placental dysfunction is an important pathological basis for PE. Early prediction of PE can be made by detecting placental-derived molecules in maternal peripheral blood. In addition, the continuous development of gene sequencing and proteomics technology also provides a new way to find biomarker molecules for predicting PE. In this paper, the progress of PE prediction and prevention is reviewed.

Cannabis, as the most abused addictive drug in Western society, has been used to treat diseases for thousands of years, but its active ingredients and mechanism of action have only gradually been recognized in recent 50 years. In the early 1990s, endocannabinoids were discovered through research into the mechanism of action of delta 9-tetrahydrocannabinol (delta 9-THC), the main psychoactive substance in cannabis. Existing studies have confirmed that endocannabinoids can trigger different signal transduction pathways by binding to receptors, and play a variety of pathophysiological roles, such as inflammation regulation, fibrosis, pain regulation, anti-tumor, gonadal function and reproductive regulation, etc., and have become a hot spot of international attention. The pathological mechanism of endometriosis (endometriosis) is accompanied by the characteristics of immune inflammatory changes, neovascularization and fibrosis. Therefore, these properties of endocannabinoids and their related mediators have attracted many scholars at home and abroad to use them for the research of endometriosis treatment. This paper summarizes its related contents and research progress.