Search

Aim: In Japan, noninvasive prenatal testing (NIPT) has been performed by facilities accredited by the Japanese Society of Obstetrics and Gynecology since 2013. However, since 2016, with the implementation of NIPT, which can only be performed by blood sampling, non‐obstetricians have been involved in prenatal testing. Therefore, in July 2022, a new government‐involved NIPT certification system based on Health Sciences Council guidelines was introduced to ensure access to prenatal testing information for pregnant women. Methods: This survey was conducted in February 2023 and was the first survey after the certification system implementation. We conducted a web‐based survey of 1227 pregnant women and nursing mothers who underwent NIPT after July 2022 to evaluate their experiences. Results: Respondents were categorized by certification status as certified (C: 56%), non‐certified (non‐C: 23%), or uncertain (Q: 20%). The C group with a higher mean age at examination (35.0 ± 4.5 years) paid lower examination fees, received longer pre‐ and post‐examination explanations, and underwent more weekday examinations (80%) than the other groups. Most respondents, 67%, 48%, and 53% in the C, non‐C, and Q groups, respectively (p < 0.0001), stated that "NIPT needs to be regulated by the government or academic societies." The non‐C group was more likely to say, "Insufficient post‐test explanations at the laboratory made me more anxious," than the other groups when the testing results were non‐negative (p = 0.015). Conclusions: Despite government regulation, some pregnant women choose convenience over certified facilities, risking inadequate care. The government should ensure that NIPT is a safe option for all pregnant women. [ABSTRACT FROM AUTHOR]

Aim: This study is to investigate the role of amniocentesis for prenatal diagnosis before and after the beginning of noninvasive prenatal testing (NIPT) in Japan. Methods: We performed a retrospective analysis of genetic amniocentesis at mid‐trimester (15–20 gestational weeks) for fetal karyotype analysis at Nagoya City University between April 2006 and March 2020. The indications, test results, and the detection rate of fetal abnormal karyotype were compared before (phase 1, P1) and after (phase 2, P2) beginning of NIPT at April 2013. Results: A total of 2458 (P1: 1132, P2: 1326) amniocentesis were enrolled in this study. The most frequent indication was advanced maternal age in both phases (P1: 78.2% %, P2: 81.1%). In P2, 110 patients (8.3%) received amniocentesis after positive or nonreportable NIPT results. Other indications were fetal abnormal findings by ultrasounds (P1: 15.4%, P2: 17.7%), abnormal maternal serum screening results (P1: 8.0%, P2: 10%), previous child with fetal chromosome aberration (P1: 6.5%, P2: 3.5%), and translocation of either partner (P1:1.5%, P2: 2.1%). The detection rate for fetal chromosomal aberrations including all indications was significantly increased in P2 (15.9%, 95% CI 14.0–18.0) as compared to P1 (9.0%, 7.4–10.8). However, if the indication was only advanced maternal age, the positive detection rate kept low in both phases (P1: 5.2%, 3.7–7.1, P2: 4.2%, 2.9–5.9). Conclusion: Since the initiation of NIPT, the detection rate of fetal chromosomal abnormalities was higher in this study, suggesting that amniocentesis cannot be strongly recommended for advanced maternal age alone. [ABSTRACT FROM AUTHOR]

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]

Abstract: Aim: The purpose of this study was to describe the characteristics of women with twin pregnancies who undergo noninvasive prenatal testing (NIPT) as well as the post‐partum and neonatal outcomes of such cases in Japan. Methods: The study population consisted of women who were pregnant with twins and who underwent NIPT using massively parallel sequencing (MPS) at Nagoya City University Hospital between April 2013 and June 2016. Questionnaires were completed pre‐NIPT and post‐partum. Results: Among 4009 women who underwent NIPT during the study period, 75 women (1.9%) were pregnant with twins. Fifteen women (20%) experienced vanishing twin/intrauterine fetal deaths at <22 weeks, and 60 women (80%) had normal twin pregnancies at the time of genetic counseling for NIPT. The use of NIPT was correlated with increased proportions of women using assisted reproductive technology (ART). The test had a high performance, with a false‐positive rate of 1.7% and no false negatives. Conclusion: In this study, NIPT had a high performance, with a false positive rate of 1.7% and no false negatives. When treating women with twin pregnancies, the efficacy of NIPT should be explained during genetic counseling. Further larger studies are required to assess the reliability and validity of NIPT in twin pregnancies. [ABSTRACT FROM AUTHOR]

Abstract: Aim: The purpose of this study was to clarify the characteristics of psychological mental distress in post‐partum women after non‐invasive prenatal testing (NIPT) in Japan. Methods: Psychological mental distress was assessed using the Kessler Psychological Distress Scale (K6). We compared patients with (i) low pre‐NIPT K6 and low post‐partum K6 scores (control group), and (ii) low pre‐NIPT K6 and a high post‐partum K6 scores (case group). Results: Among the 697 women who underwent NIPT, 29 (4.2%) had low pre‐NIPT K6 and high post‐partum K6 scores (case group) and 668 (95.8%) had low pre‐NIPT K6 and low post‐partum K6 scores (control). Among women with negative NIPT findings, post‐partum women with a high K6 score were compared to a control group of women with a low K6 score. Logistic regression analysis showed that primiparity (P = 0.007), low birthweight (P = 0.005) and use of intracytoplasmic sperm injection (P = 0.02) and assisted reproductive technology (P = 0.05) were significantly different between the groups. Conclusion: Even if women do not feel mental distress before NIPT, they may develop mental stress post‐partum. In particular, primipara women who conceived through assisted reproductive technology (especially intracytoplasmic sperm injection) and gave birth to a low birthweight baby were more susceptible to developing post‐partum distress. Thus, it is important to educate women that support is available, with consultation with other healthcare professionals during genetic counseling if necessary. Further studies are needed in order to determine the factors associated with post‐partum mental distress. [ABSTRACT FROM AUTHOR]

Aim The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. Methods Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses. Results From April 2013 to March 2016, 30 613 tests were conducted at 55 medical sites participating in a multicenter clinical study. Among the 30 613 women tested, 554 were positive (1.81%) and 30 021 were negative (98.1%) for aneuploidy. Of the 289, 128, and 44 women who tested positive for trisomies 21, 18, and 13, respectively, and underwent definitive testing, 279 (96.5%), 106 (82.8%), and 28 (63.6%) were determined to have a true-positive result. For the 13 481 women with negative result and whose progress could be traced, two had a false-negative result (0.02%). The tests were performed on the condition that a standard level of genetic counseling be provided at hospitals. Conclusion Here, we report on the 3-year nationwide experience with NIPT in Japan. It is important to establish a genetic counseling system to enable women to make informed decisions regarding prenatal testing. Moreover, a welfare system is warranted to support women who decide to give birth to and raise children with chromosomal diseases. [ABSTRACT FROM AUTHOR]

Aim Our purpose was to assess the background of couples who were undergoing non-invasive prenatal testing (NIPT) in Japan. Methods The characteristics of 2486 women who had visited Nagoya City University Hospital for NIPT were compared with Japanese Demographic Trends as controls. The questionnaire included items regarding the maternal and paternal age, maternal age at marriage, age at first live birth, and conception mode. Results Compared with the controls, the percentage of women who were 4 or more years older than their partners was larger in the NIPT group (11.8% vs 6.5%). The maternal age at marriage, age at first live birth, and the duration between marriage and first birth tended to be greater in the NIPT group (32.6 years vs 29.3 years, 36.9 years vs 30.4 years, and 3.6 years vs 2.4 years, respectively), and the percentage of women who underwent assisted reproductive technology tended to be higher in the NIPT group (35-39 years: 21.2% vs 7.5%, 40-45 years: 36.2% vs 12.6%), compared with the controls. Conclusion Knowing the specific backgrounds of couples who have undergone NIPT may be important for improving the quality of genetic counseling for NIPT. [ABSTRACT FROM AUTHOR]

Aim To assess whether FOXL2 p. C134W mutation may play a role in the development of human ovarian tumors in the Japanese, we investigated the FOXL2 codon 134 mutation and protein expression of inhibin-α, bone morphogenetic protein 2 ( BMP2) and follistatin ( FST) in Japanese patients with granulosa cell tumor ( GCT) of the ovary and other ovarian tumors. Methods We analyzed 114 tumor tissues from ovarian tumors, including 44 adult-type and two juvenile-type GCT of the ovary and 68 ovarian tumors by DNA sequencing. Immunohistochemistry was also performed in the adult and juvenile GCT tissues by immunostaining inhibin-α, BMP2 and FST. Results We found the FOXL2 p. C134W mutation in 27 out of 44 (61.4%) adult-type GCT of the ovary, but none in other ovarian tumors. Histologically, all of the adult-type GCT sections were positive for inhibin-α, and the expression of BMP2 and FST was detected in 14 of 44 (31.8%) and zero of 47 (0%), respectively. No significant differences regarding the diagnosed age, preoperative serum carbohydrate antigen 125 levels, or BMP2 immunopositivity between the FOXL2 p. C134W mutation-positive and mutation-negative were found in the adult-type GCT patients. Conclusion Our findings suggest that FOXL2 p. C134W mutation-positive adult-type GCT of the ovary may not be common in the Japanese as compared to the previous data. [ABSTRACT FROM AUTHOR]

Recurrent miscarriage is classically defined as three or more consecutive pregnancy losses. Many researchers have now revised this definition to two or more pregnancy losses because of the recent increase in the prevalence of childless couples. Established causes of recurrent miscarriage are antiphospholipid antibodies, uterine anomalies and abnormal chromosomes in either partner, particularly translocations. Antiphospholipid syndrome is the most important treatable cause of recurrent miscarriage. However, it is not yet established as to what kind of testing should be conducted in patients with recurrent pregnancy loss. Standardization of tests for antiphospholipid antibodies is needed. On the other hand, embryonic aneuploidy is the most frequent cause of recurrent miscarriage. Chromosome analysis of the embryo is important, because it has good predictive value for subsequent live birth. It is not necessary to give any medications for unexplained cases of recurrent miscarriage, and provision of psychological support may be the most important to encourage the couples to continue to conceive until a live birth results. [ABSTRACT FROM AUTHOR]

Aims: The aim of this study was to examine the influence of recurrent spontaneous abortion (RSA) on marital relationships, and the association between past/present illness and RSA. Material and Methods: A total of 2733 Japanese women who underwent a medical examination responded to the questionnaire. Results: The frequency of recurrent miscarriage and two or more consecutive RSA were 0.88% and 4.2%, respectively. Women with a history of miscarriages (hazard ratio: 1.596) and RSA (hazard ratio: 3.103) were at a higher risk of their relationships ending as compared with the women without a history of miscarriage. Existence of a relation was seen between a history of RSA and the occurrence of gastric ulcer, gastritis, fatty liver, and atopic dermatitis. Overall, 89.5% of the women with RSA experienced cumulative live births. Conclusions: Miscarriage was found to be a severe life event with an influence on marital relationships, and to be associated with an elevated risk of gastric disease or atopic dermatitis. [ABSTRACT FROM AUTHOR]

Hypophosphatasia is an inheritable disorder characterized by defective bone mineralization and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity. Screening for mutations in the TNSALP gene allows genetic counseling and prenatal diagnosis of the disease in families with severe forms of hypophosphatasia. A 33-year-old, gravida 4, para 3 Japanese woman was referred to Nagoya City University Hospital for prenatal genetic counseling because of two previous occurrences of fetal bone anomalies. The molecular examination showed that the fetus was homozygous for the TNSALP gene mutation c.1559delT, each parent being heterozygous. Genetic counseling was offered and at the next pregnancy, chorionic villus sampling was performed, whereupon genetic analysis confirmed that the fetus did not carry the familial mutation c.1559delT. Postnatal molecular genetic analysis using the cord tissue can provide a diagnosis of lethal hypophosphatasia and prenatal genetic diagnosis of the TNSALP gene allows time for parental counseling and delivery planning. [ABSTRACT FROM AUTHOR]

Glycogen storage disease type Ia (GSD Ia) leads to disturbed glycogenolysis and gluconeogenesis due to a deficiency in the enzyme glucose-6-phosphatase. A patient with GSD Ia showed hypoglycemia and proteinuria without dietary management since early pregnancy. The patient's condition was complicated by hypertension with increase in proteinuria at 22 weeks of gestation. In spite of administration of antihypertensive drugs and dietary management, the disease became more severe with deterioration in the fetal status and inhibition of fetal growth. Thus, a cesarean section was performed at 26 weeks of gestation. The delivered male infant weighing 412 g died at 2 days after birth. The patient's blood pressure had normalized within 3 months after delivery, while proteinuria persisted. [ABSTRACT FROM AUTHOR]

Aim: Recently, it has been hypothesized that reduced placental blood flow in early pregnancy causes changes in endothelial function, leading to pre-eclampsia. To clarify this clinically, we assessed serum concentrations of inhibin and uric acid in pre-eclamptic women compared with those of normotensive pregnant women. Methods: One hundred and forty normotensive pregnant women (at 20–41 weeks’ gestation) and 50 women with pre-eclampsia (at 24–41 weeks’ gestation) were the study subjects. Pre-eclamptic women were classified according to the new criteria for pregnancy-induced hypertension produced by the Japanese Society of Obstetrics and Gynecology (JSOG). Serum concentrations of uric acid and inhibin were measured enzymatically and by radioimmunoassay, respectively. Results: Serum concentrations of inhibin and uric acid in the pre-eclamptic women were significantly higher than in gestational age-matched normotensive pregnant women. There were significant correlations among inhibin and uric acid, blood pressure and birth weight. According to JSOG criteria, of the 50 pre-eclamptic women, 18 were early onset (EO), including 16 cases complicated by intrauterine growth restriction (IUGR), and 32 cases were late onset, including 12 cases complicated by IUGR. In the patients with EO and IUGR, serum concentrations of inhibin, but not uric acid, were significantly elevated as compared with those of the other pre-eclamptic women. Conclusion: The results suggest that an increase in the serum concentration of inhibin seen in EO pre-eclampsia, together with IUGR, might be a cause of reduced placental blood flow. [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]

A letter to the editor is presented in response to the article related to prenatal diagnosis of osteogenesis imperfecta type II using ultrasound and computed tomography (CT) by D. Krakow in the June, 2011 issue.

The article presents a list of consultants for the publisher in 2022 including Omer Demir, Sarika Gupta, and Tomoko Yoshihama.

The article presents a list of about Consultants for the Journal of Obstetrics and Gynaecology Research 2021, which include Ahmed Abbas, Sharmin Abbasi; and Ibrahim Abdelazim.

The article focuses on the Editorial Board of Asia and Oceania Federation of Obstetrics and Gynaecology (AOFOG) and Japan Society of Obstetrics and Gynecology (JSOG) which take this opportunity to acknowledge these reviewers who have contributed many hours and much effort in the evaluation of manuscripts submitted to JOGR during the past year.

The article lists the special referees for The Journal of Obstetrics and Gynaecology Research (JOGR) including David Askew, Scott Eblen and Wei Kong.

Reviewers for the Journal of Obstetrics and Gynaecology Research (JOGR)are acknowledged by the editors of the journal.

A list of individuals who served as referees for the journal is presented, which includes Ibrahim Abdelazim, El-Said Abdel-Hady and Zeelha Abdool.

The article lists individuals who served as consultants or special referees for the 2013 issue of "The Journal of Obstetrics and Gynaecology Research," which include Ibrahim Abdelazim, Yasuhito Abe, and Syed Billah.

The article lists the reviewers who have contributed in the evaluation of manuscripts submitted to The Journal of Obstetrics and Gynaecology Research 2012 (JOGR) including Akinaga, Chieko; Akira, Shigeo and; Akishita, Masahiro.

The article lists the consultants, who served as special referees for The Journal of Obstetrics and Gynaecology Research 2010 including Takashi Abe, Vikki Abrahams, and P. Acien.

The article provides information on the consultants for "The Journal of Obstetrics and Gynaecology Research." More than 400 individuals served as special referees for "The Journal of Obstetrics and Gynaecology Research." The consultants that have been listed are: Tomoko Adachi, Junichi Akahira, Kiyomi Suzuka, Shigeru Sasaki, Kazuo Sengoku, Satoshi Ohira, Shunji Suzuki, Masakuni Suzuki, etc. These reviewers have contributed many hours and much effort in the evaluation of manuscripts submitted to the Journal.