2016年 · 第51卷第06期

The incidence rate of pregnancy complicated with heart disease is 0.5% ~3.0%, which is one of the top three causes of maternal death^[1]。 Pregnancy complicated with heart disease includes women with a history of heart disease complicated with pregnancy, commonly structural abnormal heart diseases such as congenital heart disease, valvular heart disease and cardiomyopathy, and non-structural abnormal arrhythmias. It can also be a woman's new heart disease during pregnancy, such as gestational hypertensive heart disease and perinatal cardiomyopathy. Hemodynamic changes during pregnancy and childbirth will increase the burden on the heart, adverse factors such as anemia, hypoalbuminemia and infection can lead to decreased cardiac function, and obstetric factors such as twins, polyhydramnios and preeclampsia can induce aggravation of heart disease, and serious cardiac complications such as heart failure (heart failure), malignant arrhythmia, pulmonary hypertensive crisis, cardiogenic shock and embolism can occur.

Chromosomal abnormalities are common birth defects that can be prevented by prenatal diagnosis in clinic. Chromosomal abnormalities include chromosomal aneuploidy abnormalities (such as trisomy syndrome, monomy syndrome, chimera, etc.), chromosomal unbalanced structural abnormalities (including chromosome deletion and duplication), etc. Its clinical phenotypes are mental retardation, abnormal growth and development, organ malformations, etc. Chromosome karyotyping after cell culture is the "gold standard" for diagnosing chromosome abnormalities, but the operation is complicated, the reporting period is long, and there is a risk of cell culture failure. Molecular diagnostic technologies include fluorescence in situ hybridization (FISH), microarray comparative genome hybridization (aCGH), short tandem repeat analysis and fluorescence quantitative PCR, multiplex ligation-dependent probe amplification (MLPA), etc., which greatly promote the detection efficiency of chromosome abnormalities. Among them, MLPA is a molecular diagnostic technology established by Dutch scholar Schouten in 2002. This technology combines molecular hybridization, ligation and semi-quantitative detection of PCR technology, and can simultaneously detect the copy number changes of 40 different nucleotide sequences in the same reaction tube^[1]。 Compared with chromosome karyotyping, MLPA technology has the characteristics of rapid, high throughput, good specificity and high sensitivity. This study evaluated the clinical application of MLPA technique by analyzing 3 651 fetuses with prenatal diagnosis.

The aberrant right subclavian artery (ARSA), also known as the ectopic right subclavian artery, is one of the common congenital abnormalities of the aortic arch, which can be either a normal vascular variation or a component of a complex cardiac malformation or genetic syndrome. The normal right subclavian artery originates from the aortic arch flat, one of the branches of the brachiocephalic trunk and the first branch of the aortic arch. ARSA originates from the initiation of the descending aorta and runs as the fourth branch of the aortic arch, bypassing the posterior trachea to the right shoulder after branching out of the left subclavian artery^[1]。

Gestational diabetes mellitus (GDM) is a type of diabetes that is first detected or developed after pregnancy. It not only increases the risk of perinatal pregnant women and fetuses, but also increases the long-term development of type 2 diabetes mellitus (T2DM), metabolic syndrome and obesity of their offspring in these pregnant women. At present, the etiology and pathogenesis of GDM are not completely clear, but it has similar clinical features to T2DM, both of which have insulin secretion defects or insulin resistance, suggesting that both may have the same genetic basis^[1,2]。 Recent studies have confirmed that the melatonin receptor (MTNR) 1B gene is a candidate gene for T2DM^[3]The single nucleotide polymorphism (SNP) at the rs10830962 locus of MTNR1B gene is closely related to glucose metabolism and the function of pancreatic islet β cells, and is highly correlated with the pathogenesis of T2DM^[4]。 This gene is located on chromosomes 11q21~ q22, and encodes a high-affinity G protein-coupled receptor, which binds to melatonin, a hormone secreted by the pineal gland, and plays a physiological role. In 2012, Kwak et al.^[5]Through the study of Korean GDM population, it was found that the SNP at rs10830962 locus of MTNR1B gene has a significant correlation with the pathogenesis of GDM. In 2013, Li et al.^[6]By studying the rs10830962 locus of MTNR1B gene in Chinese Han nationality GDM patients and normal pregnant women, it was found that the SNP of rs10830962 locus was not significantly correlated with the pathogenesis of GDM. The results of the above two studies are different, suggesting that there may be some genetic heterogeneity in the incidence of GDM in different populations. In this study, Sanger sequencing and SNaPshot typing techniques were used to investigate the relationship between SNP at rs10830962 of MTNR1B gene and the pathogenesis of GDM. The results are reported below.

Fetal hemolysis caused by maternal-infant Rh blood group incompatibility is caused by the production of specific antibodies against Rh-positive fetal blood group antigens by mothers with Rh blood group negative. The blood group antibodies enter the fetal blood circulation through the placenta, causing the destruction of fetal red blood cells, progressive hemolysis, and causing fetal anemia, heart failure, edema, even stillbirth, neonatal death and other serious adverse outcomes^[1]。 The proportion of individuals with Rh-negative blood type is different in different ethnic groups. The proportion of individuals with Rh-negative blood type in China is 0.3%, which is lower than that of Caucasians in North America and Europe, 15% and Africans, 4% ~6%^[2]However, China's population base is large, and mother-child Rh blood type incompatibility occurs from time to time. In recent years, with the general survey of Rh blood group and the adjustment of "two-child policy", the incidence of Rh blood group incompatibility between mother and child has increased. There is insufficient experience in standardized treatment of this disease in China. In the literature, cases of intrauterine blood transfusion due to maternal and infant blood group incompatibility have been reported. In 2008, premature rupture of membranes occurred on the day after blood transfusion^[3]Fetal umbilical vein transfusion failed, and the second intraperitoneal transfusion was reported in 2009 with satisfactory outcome^[4]。 This paper presents a successful case of standardized intrauterine blood transfusion in a pregnant woman with maternal and infant Rh blood group incompatibility, aiming to provide reference for clinical management of similar cases in China.

Mifepristone was developed in the early 1980s. When the French company Roussel Uclaf developed glucocorticoid receptor antagonist, it was unexpectedly discovered that it had a strong ability to compete with PR, so it had the effect of terminating early pregnancy and resisting implantation. The strong antiglucocorticoid activity of mifepristone itself is self-evident, which is one of the main reasons for the continuous expansion of the clinical application field of mifepristone in recent years.

Preeclampsia is an important cause of morbidity and mortality in pregnant women and fetuses during perinatal period, and the pathogenesis is still unclear. Studies have found that there is a certain relationship between placental autophagy and preeclampsia^[1]。 Autophagy refers to the process by which cells digest their own components through the lysosomal pathway, which is an important way for the body to degrade and recover excessive or abnormal proteins and organelles. Through autophagy, cells can maintain their own stability under the conditions of hypoxia, stress, nutritional deficiency, etc., and ensure the progress of metabolism. However, excessive autophagy activation can lead to cell death, which is called type II programmed cell death. The correlation between placental autophagy and the onset of preeclampsia is reviewed below.

Endometrial cancer is a common gynecological malignant disease, and its incidence is increasing year by year^[1]。 About 75% of patients with endometrial cancer are in the early stage [FIGO stage I ~ II], and their 5-year overall survival rate is 74% ~91%; The 5-year overall survival rates of patients with stage III and IV endometrial cancer were 57%-66% and 20%-26%, respectively^[2]。 Long-term clinical practice has found that the 5-year survival rate of patients with endometrial cancer at the same stage is quite different, and the prognosis of patients cannot be better predicted by staging alone. Therefore, accurate and reasonable classification of endometrial cancer is of great significance to tap the potential clinical value.

With the continuous promotion of the concept of "fetus is patient", fetal medicine has developed rapidly in recent years by leveraging information technology platform. Intrauterine treatment of fetal diseases can be understood in both narrow and broad senses. Intrauterine treatment in the narrow sense only refers to surgery administered to the fetus, while intrauterine treatment in the broad sense covers fetal monitoring, fetal evaluation, and diagnosis and treatment of fetal diseases.