2022年 · 第04卷第04期

Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder characterized by the development of hamartomas in the brain, heart, skin, kidney, lung, retina, and so on. One fetus from family 1 had a cardiac rhabdomyoma from 21 weeks and 6 days of gestational age, and developed multiple rhabdomyomas and tubers in the brain at 23 weeks and 5 days. The counter monozygotic twin fetus remained negative throughout the pregnancy according to imaging examination. A nonsense mutation in TSC2 (c.4762C>T, p.Gln1588*) was identified in both twins, but not in the mother. Family 2 was one pair of twin fetuses caused by a microdeletion of exon 30 within TSC2 inherited from their apparently asymptomatic mother with mosaic status. The larger fetus was identified as having the first cardiac rhabdomyoma from 17 weeks and 4 days of gestational age. The smaller fetus developed multiple rhabdomyomas until 25 weeks and 6 days of gestational age. Both families terminated the pregnancy. Here, we provide intrauterine examples of clinical variability among monozygotic twins suffering from TSC.

Perimesencephalic subarachnoid hemorrhage (P-SAH) is a benign subset of subarachnoid hemorrhage. Only two cases of P-SAH during pregnancy have been reported in the literature. We describe a case of P-SAH detected at 29 weeks’ gestation, arose with severe bilateral frontal headache, neck rigidity, and vomiting. A diagnosis of P-SAH was confirmed on magnetic resonance angiography with no evidence of vascular malformation or bleeding sources and conservatively treated. Hemorrhage, vasospasm, and cerebellar edema observed on initial magnetic resonance angiography resolved after two months. The clinical course of P-SAH during pregnancy appears to be favorable. Our case shows for the first time in literature that magnetic resonance angiography is a valid diagnostic test for P-SAH during pregnancy that circumvents radiological risk associated with conventional imaging.

Objective: The objective of this study was to investigate the expression levels of microRNA-141-5p(miRNA-141-5p), MAPK1 and neutrophil elastase in patients with and without preeclampsia (PE), and the relationship between miRNA-141-5p and MAPK1 with respect to the secretion of elastase by neutrophils in patients with PE. Methods: Thirty patients with PE and 30 healthy pregnant (HP) women were recruited from The Second Hospital of Shanxi Medical University, Taiyuan, China, between February 2017 and July 2018. Neutrophils were isolated from 8 mL peripheral blood samples and cultured. We recorded neutrophil count and morphology during culture. Apoptosis was detected by flow cytometry in different groups at 0, 24, and 48 h. The expression levels of elastase were detected in neutrophils by enzyme-linked immunosorbent assay, whereas the expression levels of miRNA-141-5p in peripheral blood neutrophils were detected by real-time polymerase chain reaction. We used TargetScanHuman Release 7.2 to analyze the target genes of miRNA-141-5p. The expression of MAPK1 in peripheral blood neutrophils was detected by western blotting. Data were analyzed by SPSS version 21.0 software, and comparisons between groups were carried out with the Student t test. Results: There was no significant difference between the PE and HP groups (P > 0.050) with regard to age or body mass index. The weight of newborns in the PE group (2846.00 ± 600.00 g) was significantly lower than that in the HP group (3055.00 ± 230.68 g). The number of neutrophilic granulocytes(NGs) in blood samples from the PE group was significantly higher than that in the HP group (P = 0.003). There was no significant difference between the groups with regard to morphology. Apoptosis in the PE group was delayed when compared with the HP group at different time points. The P value of apoptosis in the PE and HP groups were respectively 0.790, < 0.001 and 0.030 at 0 h, 24 h and 48 h. The expression levels of miRNA-141-5p in the PE group were significantly lower than those in the HP group (P < 0.050). The expression levels of MAPK1 in neutrophils from the PE group were significantly higher than those in the HP group (P < 0.050) by western blot. The expression levels of elastase in neutrophils from the PE group were significantly higher than those in the HP group (P < 0.050). Furthermore, the number of NGs in peripheral blood from the PE group was higher than that of the HP group; however, the levels of apoptosis were lower. The expression levels of miRNA-141-5p in NGs decreased, the expression of MAPK1 increased, and the secretion of neutrophil elastase in the NG medium increased in the PE group than those in the HP group. Conclusion: Collectively, our analysis suggested that miRNA-141-5p may be involved in the pathogenesis of PE by regulating the MAPK1 signaling pathway to activate neutrophils and increase the secretion of elastase.

Objective: The aim of the study was to investigate the pregnancy outcomes and possible influencing factors concerning complicated monochorionic (MC) multiple pregnancies undergoing selective fetal reduction using radiofrequency ablation (RFA). Methods: This retrospective cohort study included 54 women with complicated MC multiple pregnancy who underwent selective fetal reduction using RFA at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to March 2020. According to the indications for RFA, the 54 women were divided into three groups: complex complications (n = 30), structural anomalies (n = 18), and triplet pregnancy (n = 6). According to the gestational age for RFA, all patients were divided into three groups: 16-19+6 weeks (n = 17), 20-23+6 weeks (n = 17), and 24-26+6 weeks (n = 20). We analyzed the pregnancy outcomes (including the overall survival rate (OSR), gestational age at delivery, birth weight of newborns) and postoperative complications such as miscarriage, and intrauterine fetal death (IUFD) according to the indications and gestational age of reduction by using suitable statistical testing. Results: The OSR was 83.3% (45/54). The mean ± standard deviation (SD) of gestation at the time of reduction was 21.6 ± 3.2 weeks. The GA at delivery was 34.0(32.0,37.5) weeks. The mean ± SD of newborns’ birth weight was 2118 ± 685 g. The overall rates of miscarriage, PROM, and IUFD were 9.3% (5/54), 7.4% (4/54), and 7.4% (4/54), respectively. According to the indications for reduction, the OSR for complex complications, structural anomalies, and triplet pregnancy groups were 83.3% (25/30), 83.3% (15/18), and 83.3% (5/6), respectively. Statistically significant differences were only found in the mean birth weight among the three groups (P < 0.05). No significant difference was found in the rate of miscarriage, and mean gestation at delivery among the three groups (P > 0.05). In the group with complex complications, the OSR of twin-to-twin transfusion syndrome, selective intrauterine growth restriction, twin reversed arterial perfusion sequence, and twin anemia polycythemia sequence were 66.7% (6/9), 93.3% (14/15), 80.0% (4/5), and 100.0% (1/1), respectively, with no significant difference among these groups (P > 0.05). According to the gestational age of reduction, the OSRs among the three groups were 82.4% (14/17), 76.5% (13/17), and 90.0% (18/20), respectively, and the rate of miscarriage, IUFD, and mean gestation age at delivery among these groups showed no significant difference (P > 0.05). Conclusion: Selective fetal reduction by RFA is an important treatment method for complicated MC multiple pregnancy, although it may lead to complications like miscarriage, and IUFD. The indication of reduction seems to affect the pregnancy outcome. An optimal treatment plan should be selected according to the patient’s conditions in clinical practice.

Mode of delivery in twin gestation has been a matter of debate for decades. In 2013, the only randomized controlled trial concerning mode of delivery in twin gestations was published, answering some of the most pressing questions in this matter. The Twin Birth Study randomized patients carrying dichorionic-diamniotic or monochorionic-diamniotic twins, with the first twin in cephalic presentation, between 32 and 39 weeks of gestation, to planned vaginal vs. planned cesarean delivery, and found no significant differences in perinatal or maternal outcomes. These clinical findings greatly benefit our clinical practice, but there lacks related study investigating how the practices have changed. In this review, we searched PubMed from 1980 through January 2021 using combinations of the following terms: twin, delivery, vaginal delivery, and cesarean section. We will try to address the known literature before and after the publication of the Twin Birth Study in western countries and compare that to what has been practiced in China.

The rate of multiple pregnancy is increasing, mainly because of the widespread use of assisted reproduction techniques and families’ desire for twins. Twin pregnancy accounts for a higher risk of chromosomal abnormalities, structural malformations, and neonatal adverse events than singleton pregnancy. The presence of artery-vein anastomoses, unbalanced placenta sharing, and abnormal cord insertion in monochorionic twins is associated with twin complications such as twin-to-twin transfusion syndrome, selective intrauterine growth restriction, and twin anemia polycythemia sequence. Although many guidelines and studies have established and improved the processes about the antenatal surveillance and management of twin pregnancy, they also raise more controversies and challenges. This review aims to highlight the international consensus on the antenatal care of twin pregnancies and analyze the controversies and predicaments based on the published International Federation of Gynecology and Obstetrics guidelines and research.

Twin reversed arterial perfusion sequence, a severe and unique complication of monochorionic multiple pregnancy, is characterized by vascular anastomosis and abnormal or absent cardiac development in the twins. This article reviewed its pathogenesis, prenatal ultrasound diagnosis, and management. The pump twin’s chances for survival can be maximized by proper management. The optimal timing of the interventions remains a debate, although the latest studies encourage early intervention, i.e., in the first trimester. The most preferred approach is to interrupt the vascular supply to the acardius, such as through ultrasound-guided laser coagulation and radiofrequency ablation of the intrafetal vessels.

Selective fetal growth restriction (sFGR) is a severe condition that complicates 10% to 15% of all monochorionic diamniotic (MCDA) twin pregnancies. Pregnancies complicated with sFGR are at high risk of intrauterine demise or adverse perinatal outcome for the twins. Three clinical types have been described according to the umbilical artery (UA) Doppler pattern observed in the smaller twin: type I, when the UA Doppler is normal; type II, when there is persistent absent or reversed end-diastolic blood flow in the UA Doppler; and type III, when there is intermittent absent and/or reversed end-diastolic blood flow in the UA Doppler. Clinical evolution and management options mainly depend on the type of sFGR. Type I is usually associated with a good prognosis and is managed conservatively. There is no consensus on the management of types II and III, but in earlier and more severe presentations, fetal interventions such as selective laser photocoagulation of placental anastomoses or selective fetal cord occlusion of the smaller twin may be considered. This review aims to provide updated information about the diagnosis, evaluation, follow-up, and management of sFGR in MCDA twin pregnancies.

The rate of twin pregnancies has increased over the last decades, largely because of the ongoing development of assisted reproductive technology and increased maternal age at childbearing. Twins have a higher risk of adverse outcomes during pregnancy and the perinatal period. The prevalence of umbilical cord abnormalities is higher for twin pregnancies compared with singleton pregnancies. Some of these abnormalities are nonspecific to twinning and can also be found in singleton gestations (such as velamentous cord insertion, vasa previa, and single umbilical artery). Other abnormalities are associated with monochorionic twins, such as umbilical cord entanglement, and umbilical proximate cord insertion. Most of these abnormalities can be detected by ultrasound evaluation. The early and accurate ultrasound diagnosis of chorionicity, amnionicity, and placental and umbilical cord characteristics is crucial if we are to predict the risk of complications and to determine the best management for twin pregnancies. Histopathological examination of the placenta and umbilical cord after delivery can help to confirm prenatal diagnosis and to provide a better understanding of the physiopathology of their abnormalities. The aim of this review was to emphasize the role that the umbilical cord plays in twin complications and to describe the management of these high-risk pregnancies.