Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung hypoplasia. Congenital diaphragmatic hernia is one of the most severe birth defects, with extremely high neonatal mortality. This paper presents a review of the available literature on prenatal diagnosis, management and treatment options for CDH. In selected cases, a prenatal procedure to improve neonatal survival is possible. The authors of this manuscript believe their work might contribute to a better understanding of congenital diaphragmatic hernia and patient selection for the FETO (fetal endoscopic tracheal occlusion) surgery or expectant management. Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung hypoplasia. Congenital diaphragmatic hernia is one of the most severe birth defects, with extremely high neonatal mortality. This paper presents a review of the available literature on prenatal diagnosis, management and treatment options for CDH. In selected cases, a prenatal procedure to improve neonatal survival is possible. The authors of this manuscript believe their work might contribute to a better understanding of congenital diaphragmatic hernia and patient selection for the FETO (fetal endoscopic tracheal occlusion) surgery or expectant management.
Introduction: The objective of this study was to define the optimal method and timing of intervention in twin reversed arterial perfusion (TRAP) sequence. Material and Methods: During a period of 20 years (1993-2013), we performed endoscopic laser coagulation of umbilical cord vessels or intrafetal laser in 67 pregnancies with TRAP sequence. These data were combined with those reported in the literature to determine the survival rate of the pump twin for different methods and timing of interventions. Results: A variety of techniques were used to interrupt the blood supply to the acardiac twin. Most procedures were performed at or after 16 weeks, and with most methods the survival rate of the pump twin was about 80%. Good results were also obtained for triplet pregnancies. In 18 of 30 cases (60%) diagnosed at 11-14 weeks, there was spontaneous cessation of flow in the acardiac twin before planned intervention at 16-18 weeks, and in 11 of these (61.1%) the pump twin died or suffered brain damage. In 103 pregnancies treated by intrafetal laser at 12-27 weeks, there was no correlation between gestational age at treatment and survival rate, but there was an inverse association between gestational age at treatment and gestational age at birth. Discussion: In TRAP sequence, survival may be improved by elective intervention at 12-14 weeks.
1 April 2022 in American Journal of Obstetrics and Gynecology
The aim of this paper is to review the outcomes and discuss the genetic and non-genetic aetiology of nonimmune hydrops fetalis in order to support differential ultrasound and genetic evaluations and family counselling. This single-centre study includes all cases of nonimmune hydrops fetalis diagnosed prenatally from 2009 to 2019. Two sources of data were used for this study (prenatal and neonatal) to compare and summarise the findings. Data from genetic testing and ultrasound scans were collected. In total, 33 pregnant women with prenatally diagnosed nonimmune hydrops fetalis were studied. The data included 30 cases of singleton (91%) and three cases (9%) of twin pregnancies. There were 14 survivors (43%), seven cases of postnatal deaths (21%), four cases of intrauterine foetal demises (12%), four cases of termination of pregnancy (12%), and four women without a follow up (12%). The total number of chromosomally normal singleton pregnancies was 29 (88%), and 14 foetuses had an anatomical abnormality detected on the ultrasound scan. The chance of survival was the highest in cases of isolated, idiopathic hydrops fetalis, which in most cases was due to an undetectable intrauterine infection. In many cases, the diagnosis could not be established throughout pregnancy. Each case of nonimmune hydrops fetalis should thus be analysed individually.
This recommendation document follows the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation. We aim to bring together groups and individuals throughout the world for precise standardization to implement the ultrasound evaluation of the fetus in the first trimester of pregnancy and improve the early detection of anomalies and the clinical management of the pregnancy. The aim is to present a document that includes statements and recommendations on the standard evaluation of the fetal anatomy in the first trimester, based on quality evidence in the peer-reviewed literature as well as the experience of perinatal experts around the world.