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Aim: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high‐risk pregnant women. Methods: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age‐specific PPV and NPV were estimated. Results: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78–99.96), 99.12% (95% CI: 96.83–99.76), and 100% (95% CI: 88.30–100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age‐specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. Conclusion: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high‐risk pregnant women, and maternal age‐specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to clarify ultrasound screening and management for vasa previa (VP) in perinatal centers and primary facilities in Japan. Methods: A questionnaire survey about antepartum ultrasound screening and management for VP was delivered in 2018. Questions were sent by email or post to perinatal centers and randomly selected primary hospitals or clinics throughout Japan. Results: Seventy‐seven perinatal centers and 300 primary facilities answered. VP was screened in 85.7% of perinatal centers and 81.3% of primary facilities. The reported incidence of VP was 0.05% (86/158 323) and 0.05% (28/54 791) in perinatal centers and primary facilities, respectively. When patients were diagnosed with VP, 88.7% of primary facilities referred the patient to a tertiary hospital. Routine hospitalization (100%) and steroid administration (46%) were frequently performed in perinatal centers. The median gestational age at planned cesarean section was significantly earlier in perinatal centers (34 weeks) than in primary facilities (37 weeks). Of the 31 reported cases of VP, 30 were reported as intact survival, but 1 case required an emergency cesarean section at 38 weeks of gestation without an antenatal diagnosis, resulting in neonatal death. Conclusion: More than 80% of obstetric facilities both perinatal centers and clinics in Japan perform ultrasound screening with for VP with similar detection rate. However, to further improve perinatal outcomes related to VP, pathophysiology and diagnosis of VP should be more widely recognized by obstetric caregivers throughout Japan. [ABSTRACT FROM AUTHOR]

Background: Fetal surgery for myelomeningocele (MMC) has yet not been performed in Japan, and the clinical background of fetal MMC in Japan remains poorly described. We examined the prenatal characteristics and perinatal outcomes of fetal MMC to prepare for the introduction of fetal surgery. Methods: A nationwide questionnaire survey was conducted with regard to fetuses with MMC between January 2012 and December 2014 at perinatal centers in Japan. Results: In 50 tertiary centers, 188 cases of MMC were identified, of which 126 (67%) were isolated cases. Only half of the cases involved referral to tertiary centers with a diagnosis of MMC. The median time point for a prenatal diagnosis was 26 weeks' gestation (range, 12–38 weeks); in 54% of cases the diagnosis occurred after 26 gestational weeks, which is over the limit for fetal surgery for MMC. Furthermore, in 22% of cases the diagnosis was made before 22 gestational weeks, and in three‐quarters of these cases termination of pregnancy was selected. No fetal or neonatal deaths were observed in the isolated MMC group. MMC repair, ventriculoperitoneal shunt and clean intermittent catheterization were required after birth in 100%, 73% and 55% of isolated MMC cases, respectively. In total, 96% of the tertiary centers cared for <5 cases of fetal MMC per year. Conclusions: Gestational age at MMC diagnosis was late mid‐gestation, therefore earlier detection is essential when considering fetal treatment of MMC in Japan. Although the survival rate was excellent, in three‐quarters of isolated MMC cases ventriculoperitoneal shunt was required. Early detection and centralization of MMC cases at specialized centers should be considered. [ABSTRACT FROM AUTHOR]

Aim Second-trimester maternal serum screening ( MSS) is the predominant form of prenatal screening in Japan. We hypothesize that patient education and physician knowledge of Down syndrome ( DS) screening are insufficient to provide adequate information regarding prenatal screening in Japan. Material and Methods In-person or telephone interviews with medical personnel were conducted at 25 medical facilities utilizing Afp4 ( Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America Holdings) second trimester screening. We explored how medical facilities provided information about the MSS process to pregnant women. Results Before prenatal testing, 60% of medical facilities spent an average of less than 5 min per patient explaining the MSS process. The option of amniocentesis for chromosomal aneuploidy was explained at nearly all facilities, but only 60% explained the risk of amniocentesis. Ultrasound examination for open neural tube defects was explained only at half the facilities. Only five of 25 (20%) medical practitioners explained the possibility of having congenital disorders fetus. Conclusion This study revealed that most obstetricians in Japan do not provide their patients with sufficient information about MSS. [ABSTRACT FROM AUTHOR]

Purpose: To review the recent Japanese experience with prenatally diagnosed congenital diaphragmatic hernia (CDH) based on a multi-institutional survey.Methods: A multicenter, retrospective cohort study was conducted on 117 patients born between 2002 and 2007 with isolated prenatally diagnosed CDH. All patients were managed by maternal transport, planned delivery, immediate resuscitation and gentle ventilation. The primary outcome measurements were the 90-day survival and intact discharge. The examined prenatal factors included gestational age (GA) at diagnosis, lung-to-head ratio (LHR), lung-to-thorax transverse area ratio (L/T) and liver position. Physical growth and motor/speech development were evaluated at 1.5 and 3 years of age. Data were expressed as the median (range).Results: The mean GA at diagnosis was 29 (17-40) weeks. The LHR and L/T were 1.56 (0.37-4.23) and 0.11 (0.04-0.25), respectively. There were 48 patients with liver up. The mean GA at birth was 38 (28-42) weeks. The 90-day survival rate and intact discharge rate were 79 and 63%, respectively. Twelve patients had major morbidity at discharge, and 71% of these patients had physical growth or developmental retardation at 3 years of age.Conclusion: This multicenter study demonstrated that the 90-day survival rate of isolated prenatally diagnosed CDH was 79%, and that subsequent morbidity remained high. A new treatment strategy is needed to reduce the mortality and morbidity of severe CDH. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To identify adequate weight gain ranges during pregnancy in Japanese women. Method: Obstetric records from 2001 to 2002 for 46,659 term, singleton, vaginally delivered live births was used to estimate IUGR and macrosomia risk. Total maternal weight gain was grouped according to gestational age-specific percentile values of weight gain as follows: “very low” (under the 25th), “low” (25th to 49th), “moderate” (50th to 74th), “high” (75th to 89th), and “very high” (90th and over). Results: About 6% of infants were identified as having IUGR and 0.9% as macrosomia. IUGR risk was elevated with low weight gains. Macrosomia risk was related to high weight gains and previous spontaneous abortions. Conclusion: Achieving weight gains between the 50th and 75th percentiles for gestational age was considered adequate for optimal fetal growth in Japanese pregnant women. [Copyright &y& Elsevier]