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We have been conducting a survey on the birth prevalence of orofacial clefts, including cleft lip with or without cleft palate and cleft palate, in the Tokai area in central Japan every year for 37 years. Along with the yearly trends in the birth prevalence of orofacial clefts in that area for the past 37 years, we discuss whether the artificial abortion rate of fetuses with orofacial clefts has increased through the improved performance of ultrasonic imaging equipment. We also compare the yearly trends in the birth prevalence of congenital anomalies, including orofacial clefts, in Japan with those in other countries or areas where artificial abortion due to birth defects is legally permitted, and discuss the impact of improved accuracy of ultrasound imaging on the rate of artificial termination of pregnancy. The fact that the birth prevalence of orofacial clefts has basically remained unchanged for more than 30 years, even with recent more detailed prenatal diagnosis based on the improvement of ultrasonic diagnostic equipment, has allowed us tentatively to conclude that prenatal diagnosis is not currently threatening the right to life of the fetuses with orofacial clefts. [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]

Objective: To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan.Methods: A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated.Results: Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75.1% (699/931). TOP rates were 89.3% (585/655) in autosomal aneuploidies and 40.8% (51/125) in sex chromosome aneuploidies. Trisomy 21 showed the highest TOP rate (93.8% [390/416]) followed by trisomy 18 (84.5% [163/193]) and trisomy 13 (71.9% [23/32]). Indications for karyotyping were related to a parental decision for TOP (p < 0.01): in cases of autosomal aneuploidy, with fetal abnormal ultrasound findings as the reference value, diagnoses made following positive results at non-invasive prenatal testing (adjusted odds ratio [OR]: 13.7, 95% confidence interval [CI] 4.07-45.9) and those because of advanced maternal age (adj. OR 2.91, 95% CI 1.15-7.35) were significantly more frequent.Conclusions: In Japan, pregnancies with fetal trisomy 21 are more likely to result in TOP when diagnosed in utero than any other chromosome anomaly. The indications for prenatal karyotyping strongly affect the decision to TOP. © 2016 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Clinical guidelines for obstetrical practice were first published by the Japan Society of Obstetrics and Gynecology (JSOG) and the Japan Association of Obstetricians and Gynecologists (JAOG) in 2008, and a revised version was published in 2011. The aims of this publication include the determination of current standard care practices for pregnant women in Japan, the widespread use of standard care practices, the enhancement of safety in obstetrical practice, the reduction in burdens associated with medico-legal and medico-economical problems, and a better understanding between pregnant women and maternity-service providers. These guidelines include a total of 87 Clinical Questions followed by several Answers (CQ&A), a Discussion, a List of References, and some Tables and Figures covering common problems and questions encountered in obstetrical practice. Each answer with a recommendation level of A, B or C 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 87 CQ&A are presented herein to promote a better understanding of the current standard care practices for pregnant women in Japan. [ABSTRACT FROM AUTHOR]

Abstract: Background/Purpose: The termination of pregnancy because of fetal abnormalities in Japan has not been described. The aim of the present study was to analyze the current status and to evaluate the medical and ethical relevance in our institution for negative treatment decision-making for fetuses demonstrating neonatal surgical disease with a prenatal diagnosis. Materials and methods: The medical records of 209 fetuses with a prenatal diagnosis from 1999 to 2008 were retrospectively reviewed. The cases with a negative treatment policy were analyzed according to the potential for survival. The negative treatment policies were defined as those in which the pregnancy was not actively continued, including elective termination of pregnancy and palliative or limited treatment that are primarily provided after birth. Results: The selected treatment policies were active in 162 cases and negative in 46 cases. Thirty-three cases with negative policies were in the second-half period of pregnancy. The potential for survival was high in 5 cases, moderate in 11 cases, and nonviable in 30 cases. Eight of the nonviable cases underwent either limited or palliative treatment, whereas the remaining 38 fetuses were aborted. Conclusions: The negative treatment policies in the nonviable fetuses were considered to be medically and ethically relevant. However, the number of cases with negative policies increased over the last 5 years and is therefore associated with complex ethical issues. [ABSTRACT FROM AUTHOR]

Japan is one of the few countries to have enacted legislation on eugenics. Consequently, there has been active public debate about the practice of selective abortion for over 35 years. Furthermore, discrimination against disabilities is deep-rooted in Japanese society and the quality of offspring is a common concern. Given this background, the obvious conclusion might be that couples in Japan would have no hesitation in using reproductive technologies to ensure the best possible chance of giving birth to higher quality offspring. Yet, research indicates that when it comes to decision-making in the course of a pregnancy, not all individuals choose testing or termination, even when prenatal diagnosis indicates the presence of congenital conditions. Other factors play a role in reproductive decision-making, including age at time of pregnancy and reproductive history including infertility treatment. Against this background, this paper analyses accounts of five pregnancies - two of which resulted in termination and three which went to full term despite receiving test results showing possible birth defects - with the aim of identifying factors influencing whether or not to terminate a pregnancy. [ABSTRACT FROM AUTHOR]

Japan, known as a pro-choice country in terms of abortion, is currently facing the increase of "selective abortions" thanks to new prenatal screening. Efforts to restrict proliferation of new technology has not been successful and it is likely that Japan will turn pro-life by strictly enforcing the Maternity Protection Act (MPA), which prohibits abortions due to "fetal cause". [ABSTRACT FROM AUTHOR]

Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation ( BCL-6 co-repressor gene [ BCOR] c. 254C>T, p. P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46, XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c. 254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning. [ABSTRACT FROM AUTHOR]