Aim: Perimortem cesarean section (PCS) is a procedure performed as part of cardiopulmonary resuscitation (CPR). This study aims to clarify maternal and neonatal prognosis and establish PCS's utility and limitations. Methods: We sent structured questionnaires to obstetrics facilities regarding the cases of PCS performed in Japan between April 2010 and April 2015. Receiver operating characteristic (ROC) curve was used to determine the optimal cut-off values of the time from cardiopulmonary arrest (CPA) to return of spontaneous circulation to predict the onset of disseminated intravascular coagulation (DIC). Results: PCS was performed for 18 patients. Out of 18 patients, 12 were resuscitated. The women who were discharged without major sequelae (n = 6) were compared with the non-discharged women who were dead or in persistent vegetative state (n = 12), and median interval time from arrest to PCS was significantly shorter in the former group (P = 0.002). Median interval time from CPA to PCS in the cases in which the neonates survived without major morbidities was significantly shorter than that in the cases of neonatal death and hypoxic encephalopathy (P = 0.01). DIC was observed in 8/9 (89%) patients whose resuscitation took more than 20 min from the diagnosis of CPA. Percutaneous cardiopulmonary support (PCPS) was introduced in 4/9 patients. However, more cases with uncontrolled bleeding, possibly caused by a sudden increase in blood flow and DIC after resuscitation, were observed in the PCPS group compared to the non-PCPS group. Conclusion: PCS can be an effective CPR procedure. However, if PCS is not performed within 20 min from CPA, starting PCPS before PCS is an option.

Monochorionic-triamniotic triplet pregnancy with twin reversed arterial perfusion (TRAP) sequence is one of the rare complications of multiple pregnancy and has been reported by only a few. Here, we report a case of monochorionic-triamniotic triplet pregnancy with TRAP sequence successfully treated with radiofrequency ablation, which did not develop polyhydramnios and heart failure although the estimated weight of the acardiac fetus increased twice as much as that of the direct pump fetus. Interestingly, the anastomosed blood vessels between the direct and indirect pump fetuses comprised a parallel circuit, which provided blood flow to the acardiac fetus. We hypothesized that the burden on the pump fetus in monochorionic pregnancy with TRAP sequence would be different between triplet and twin pregnancies.

Background. Caesarean scar pregnancy (CSP) is a rare ectopic pregnancy associated with life-threatening complications. To date, no therapeutic protocols have been established. Sono-guided local methotrexate (MTX) injection is a relatively easy and low-invasive treatment. Additional systemic MTX is sometimes needed for CSP cases, especially when β-subunit human chorionic gonadotropin (β-hCG) levels are >20,000 mIU/ml at diagnosis. We report on six cases of CSP treated with local MTX injection, five of which received combined local treatment. Methods. Under intravenous anesthesia, six CSPs including a case with β-hCG levels >20,000 mIU/ml received MTX injection to the gestational sac. Five cases received gestational sac aspiration. Three cases had additional local potassium chloride injection and one case had a saline injection aiming at the fetal heart beat concurrent with MTX injection. MTX was administered weekly if β-hCG levels stayed beyond the expected values. Outcomes. All cases achieved β-hCG normalization without additional systemic MTX, with one case having a successful pregnancy after treatment. Conclusion. Sono-guided local MTX injection with concurrent local treatment might be a potentially effective approach for CSP cases. The accumulation of further cases is necessary to confirm this.

Bone dysplasias are a group of rare hereditary diseases, with up to 436 disease types. Perinatal diagnosis is clinically important for adequate personalized management and counseling. There are no reports focused on pathogenic variants of bone dysplasias in the general population. In this study, we focused on autosomal recessive bone dysplasias. We identified pathogenic variants using whole-genome reference panel data from 3552 Japanese individuals. For the first time, we were able to estimate the carrier frequencies and the proportions of potential patients. For autosomal recessive bone dysplasias, we detected 198 pathogenic variants of 54 causative genes. We estimated the variant carrier frequencies and the proportions of potential patients with variants associated with four clinically important bone dysplasias: osteogenesis imperfecta (OI), hypophosphatasia (HPP), asphyxiating thoracic dysplasia (ATD), and Ellis–van Creveld syndrome (EvC). The proportions of potential patients with OI, ATD, and EvC based on pathogenic variants classified as “pathogenic” and “likely pathogenic” by InterVar were closer to the reported incidence rates in Japanese subjects. Furthermore, the proportions of potential patients with HPP variants classified as “pathogenic” and “likely pathogenic” in InterVar and “pathogenic” in ClinVar were closer to the reported incidence rates. For bone dysplasia, the findings of this study will provide a better understanding of the variant types and frequencies in the Japanese general population, and should be useful for clinical diagnosis, genetic counseling, and personalized medicine.