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The 2017 clinical guidelines for obstetrical practice by the Japan Society of Obstetrics and Gynecology and the Japan Association of Obstetricians and Gynecologists were revised and published as the 2020 edition (in Japanese). The aim of these guidelines is to present appropriate standard obstetric diagnosis and management procedures that have reached consensus among Japanese obstetricians. The 2020 guidelines include 113 clinical questions and an appendix, followed by answers (CQ&A; originally 112 in the 2017 edition), a discussion, list of references, and some tables and figures presenting common problems and questions encountered in obstetrical practice. Each answer comes with a recommendation level of A, B, or C and has been prepared based principally on evidence or a consensus among Japanese obstetricians in situations where "evidence" is weak or lacking. Answers with a recommendation level of A or B represent current standard care practices in Japan. All 113 CQ&As and the appendix are presented here to promote a better understanding of the current standard care practices for pregnant and lactating women in Japan. [ABSTRACT FROM AUTHOR]

Background: Prader–Willi syndrome (PWS) is suspected at birth if extreme hypotonia, difficulty in feeding, hypogonadism, and failure to thrive are present. Genetic diagnosis of PWS can generally be made within the first few months of life; however, a delayed diagnosis of PWS is frequently reported. Although the clinical characteristics of perinatal and neonatal patients with PWS have been reported, there are no such reports on the clinical characteristics of these patients in Japan. Methods: This retrospective, single‐center study involved 177 Japanese patients with PWS and their medical data regarding the perinatal and neonatal periods were evaluated. Results: The median maternal age at birth was 34 years; 12.7% of the mothers had a history of assisted reproductive technology (ART). Of the mothers, 13.5% reported polyhydramnios and 4.3% had oligohydramnios. Decreased fetal movement during pregnancy was reported by 76% of the mothers. A total of 60.5% of patients were born by cesarean section. Genetic subtypes included deletions (66.1%), uniparental disomy (31.0%), imprinting defects (0.6%), and other or unknown subtypes (2.3%). The median birth length was 47.5 cm and the median birthweight was 2476 g. Of the 160 patients, 14 (8.8%) were classified as small for gestational age. Most patients had hypotonia (98.8%), and 89.3% required gavage feeding at birth. Breathing problems, congenital heart disease, and undescended testis were noted in 33.1%, 7.0%, and 93.5% of patients, respectively. Conclusion: In our study, higher rates of ART, polyhydramnios, decreased fetal movements, cesarean section, hypotonia, feeding difficulties, and undescended testis were observed in PWS. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate prevalence of idiopathic and secondary restless legs syndrome (RLS) according to pregnancy trimester, and its effects on delivery-related outcomes among pregnant women in Japan. Methods: This was a single-center, prospective observational study. One hundred eighty-two consecutive pregnant women participated in the study from June 2014 to March 2016. Participants were interviewed and examined in the second and third trimesters of pregnancy and 1 month after delivery. At each term, RLS was identified by a research assistant and then specialist in sleep medicine based on the diagnostic criteria of the International Restless Legs Syndrome Study Group. Delivery-related data was collected from medical charts. RLS was classified as idiopathic RLS, which originally existed before the index pregnancy, or secondary RLS, which newly appeared during the index pregnancy. Results: The prevalence of RLS was 4.9% (idiopathic 3.3%, secondary 1.6%) in the second trimester, 5.0% (idiopathic 0.0%, secondary 5.0%) in the third trimester, and 0.6% (idiopathic 0.0%, secondary 0.6%) after delivery. Prolonged labor, emergency Cesarean section, and arrest of labor tended to be more frequent in idiopathic and/or second RLS (all p<0.05). Conclusions: The prevalence of RLS during pregnancy was 4–5% and decreases after delivery in current Japan. The presence of RLS was associated with an increase in some delivery-related outcomes. Early detection and treatment of RLS during pregnancy may be beneficial to safe delivery for pregnant women. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to identify risk factors for the onset of cerebral palsy (CP) in neonates due to placental abruption and investigate their characteristics. Methods: A retrospective case–control study was conducted using a nationwide registry from Japan. The study population included pregnant women (n = 122) who delivered an infant with CP between 2009 and 2015, where placental abruption was identified as the single cause of CP. The control group consisted of pregnant women with placental abruption, who delivered an infant without CP and were managed from 2013 to 2014. They were randomly identified from the prenatal database of the Japan Society of Obstetrics and Gynecology (JSOG‐DB; n = 1214). Risk factors were investigated using multivariate analysis. Results: Alcohol consumption (3.38, 2.01–5.68) (odds ratio, 95% confidence interval), smoking during pregnancy (3.50, 1.32–9.25), number of deliveries (1.28, 1.05–1.56), polyhydramnios (5.60, 1.37–22.6), oral administration of ritodrine hydrochloride (2.09, 1.22–3.57) and hypertensive disorders in pregnancy (2.25, 1.27–4.07) were significant risk factors. In contrast, intravenous administration of oxytocin (odds ratio, 95% confidence interval: 0.22, 0.09–0.58) and magnesium sulfate (0.122, 0.02–0.89) attenuated risk. Conclusion: Alcohol consumption, smoking during pregnancy, number of deliveries, polyhydramnios, oral administration of ritodrine hydrochloride and hypertensive disorders in pregnancy were identified as risk factors for CP following placental abruption. Regarding alcohol consumption and smoking during pregnancy, the results suggest the importance of educational activities targeting pregnant women to increase their awareness of placental abruption. [ABSTRACT FROM AUTHOR]

Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extremity predominance. These variants are also identified in individuals with severe forms of congenital muscle atrophy representing arthrogryposis multiplex. A girl was born with severe muscle weakness and respiratory distress. A fetal ultrasound had detected polyhydramnios and multiple joint contractures in utero. She was born with severe muscle weakness and respiratory distress. Bilateral hip joint dislocation and multiple bone fractures were also present at birth. Although she depends on medical care, including assisted ventilation and tube feeding, she has reached eight years of age. Her motor developmental skills were reduced owing to muscle weakness and deformity of her lower extremities, whereas her cognitive development slowly but steadily grew. Whole exome sequencing revealed a novel de novo missense BICD2 variant (c.1625G > A, p.(Cys542Tyr)), which was evaluated as likely pathogenic. This is the first case report of a severe form of spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 variant in Japan. [ABSTRACT FROM AUTHOR]

Aim We conducted a retrospective analysis of summary medical reports of children diagnosed with cerebral palsy (CP) to identify clinical features of antenatal onset of CP secondary to transient ischemia in utero. Methods The 658 brief summary reports available in the Japan Obstetric Compensation System for Cerebral Palsy were screened, and we identified cases of singleton pregnancy, delivered at gestational age ≥ 33 weeks and those with cord blood gas pH ≥ 7.20. Of the 137 cases identified, 84 were excluded for the following reasons: no evidence of ischemic brain lesion, clear post-natal causative factor of CP, presence of a congenital condition, and sentinel hypoxic event, such as uterine rupture. The demographic profiles of the 53 cases included in our analysis were compared to identify those with and without an abnormal variability in fetal heart rate. Results Between-group comparison identified an association between abnormal heart rate variability and a lower Apgar score at 1 min (2 vs 6; P < 0.001) and 5 min (5.5 vs 8; P = 0.002), and more frequent episodes of fetal movement loss (41% vs 10%; P = 0.027). An hypoxic event ≤ 1 week before delivery was more likely to be associated with abnormal heart rate variability (89%) and low Apgar score (82%), while events at > 1 week were associated with development of polyhydramnios (44%). Conclusion In utero transient ischemic events can contribute to term or near-term CP. Careful follow-up is recommended for fetuses with a history of fetal movement loss, abnormal variability in heart rate, and polyhydramnios of unknown causes. [ABSTRACT FROM AUTHOR]

Objectives: To demonstrate the clinical course and the obstetric risk factors for umbilical cord prolapse.Methods: The clinical course of reported cases of umbilical cord prolapse that occurred in Japan between 2007 and 2011 was retrospectively analyzed. The obstetric risk factors for umbilical cord prolapse were investigated by a nationwide population-based case-cohort study.Results: Three hundred and sixty-nine cases (0.018 %) of fore-lying/prolapsed umbilical cord in 2,037,460 deliveries were analyzed. Most cases of fore-lying umbilical cord were diagnosed by an ultrasound scan (78 %), whereas umbilical cord prolapse was most frequently diagnosed by an internal examination (63 %). Umbilical cord prolapse was found to be significantly associated with the following factors: multiple pregnancy [odds ratio (OR) 3.57; 95 % confidence interval (CI) 2.60, 4.90], non-vertex presentation (OR 4.67; 95 %CI 3.73, 5.86), preterm labor (OR 2.28; 95 %CI 1.83, 2.83), premature rupture of membranes (OR 3.84; 95 %CI 3.10, 4.77), prolapsed amniotic bag (OR 12.31; 95 %CI 9.00, 16.85), polyhydramnios (OR 2.89; 95 %CI 1.49, 5.61), and a birth weight of <2500 g (OR 2.26; 95 %CI 1.84, 2.79).Conclusion: The current study is the largest in Japan to demonstrate the obstetric clinical course and risk factors associated with umbilical cord prolapse. Prolapsed amniotic bag, labor and rupture of membrane during premature period, and fetal abnormal presentation induced by multiple pregnancy, and polyhydramnios were high risk situation for umbilical cord prolapse. [ABSTRACT FROM AUTHOR]

We herein report a case of type I congenital cystic adenomatoid malformation of the lung (CCAML) with non-immune hydrops fetalis (NIHF), a mediastinal shift and polyhydramnios diagnosed at 24 weeks’ gestation by ultrasonography. The fetus was treated with a cyst-amniotic shunt at 29 weeks’ gestation. Following a postnatal whole resection of the right lung, postpneumonectomy syndrome appeared and, as a result, the infant died 13 months after delivery due to respiratory failure. Only 19 cases demonstrating CCAML associated with NIHF have been reported previously in Japan. Four cases showed a spontaneous resolution of NIHF, while 5 cases with type I CCAML, which all underwent fetal intervention, demonstrated an excellent outcome. [ABSTRACT FROM AUTHOR]

Objective: To clarify clinical and genetic features of Japanese children with congenital chloride diarrhea (CCD)., Study Design: This was a multi-institutional, retrospective survey of 616 pediatric centers in Japan with identified patients with CCD between 2014 and 2018. Mutations involving SLC26A3 were detected by Sanger sequencing., Results: Thirteen patients met all entry criteria including mutations in SLC26A3, and 14 patients satisfied clinical diagnostic criteria. Homozygous or compound heterozygous mutations in SLC26A3, including 6 novel mutations, were identified in 13 of these 14 patients (93%). The most common (detected in 7 of 13) was c.2063-1g>t. Median age at diagnosis was 1 day. Nine of the patients meeting all criteria were diagnosed as neonates (69%). Median follow-up duration was 10 years. When studied, 8 patients had <5 stools daily (62%), and all had fewer than in infancy. Only 1 patient had nephrocalcinosis, and 3 (23%) had mild chronic kidney disease. Neurodevelopment was generally good; only 1 patient required special education. Five patients (38%) received long-term sodium, potassium, and chloride supplementation., Conclusions: Early fetal ultrasound diagnosis and prompt long-term sodium, potassium, and chloride supplementation were common management features. Genetic analysis of SLC26A3 provided definitive diagnosis of CCD. In contrast with previously reported localities, c.2063-1g>t might be a founder mutation in East Asia., (Copyright © 2019 Elsevier Inc. All rights reserved.)