Search

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]

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]