Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two fetuses with severe, prenatally diagnosed multiple arthrogryposis congenita.

Impact of the new government-involved noninvasive prenatal testing certification system on the awareness of pregnant women about noninvasive prenatal testing in Japan.

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.

Utilizing Repetitive Serial Placental Ultrasounds for Diagnosing a Massive Subchorionic Thrombohematoma: Insights Into Soluble FMS-Like Tyrosine Kinase-1/Placental Growth Factor (sFlt-1/PlGF) Trends.

The patient, a 34-year-old primigravida with no prior medical history, presented at 23 + 0 weeks with gestational hypertension and fetal growth restriction (FGR). Ultrasound examination showed a placental mass, and subsequent repeated ultrasound scans revealed changes in the mass' echogenicity, raising suspicion of a massive subchorionic thrombohematoma (MST). While the blood pressure was mildly elevated without proteinuria and organ dysfunctions, serum soluble fms-like tyrosine kinase-1/placental growth factor (sFlt-1/PlGF) ratios showed significantly elevated values.

Overdose of angiotensin II receptor blocker in the third trimester of pregnancy: A case report.

Angiotensin II receptor blockers (ARBs) are contraindicated during pregnancy because of fetal toxicity. All previous reports on adverse fetal outcomes involved women who continued to take low-dose ARBs for hypertension and were unaware of the adverse effects. Herein, we report the case of a 23-year-old pregnant woman in her third trimester who experienced an ARB overdose after an argument with her partner.

Inhibitory effect of all-trans retinoic acid on ferroptosis in BeWo cells mediated by the upregulation of heme Oxygenase-1.

Introduction: This study aimed to explore the association between ferroptosis, a newly identified type of cell death, and the role of retinoic acid in developing pregnancy complications. Therefore, the effects of all-trans retinoic acid (ATRA) on ferroptosis susceptibility in BeWo cells were assessed to understand abnormal placental development.

Methods: BeWo cells were used as surrogates for cytotrophoblasts.

Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism.

Objective: Herein, we present a case of mosaic trisomy 6 detected by amniocentesis.

Case Report: Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morphological abnormalities, and the parents desired to continue the pregnancy.

Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report.

Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes.

Case Report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm.

Congenital segmental dilatation of the intestine in a neonate.

A woman in her 30s at 29 weeks of gestation was diagnosed with a fetal abdominal cyst and polyhydramnios. As the cyst gradually increased in size, an elective caesarean section was performed at 38 weeks of gestation. The neonate experienced respiratory distress due to tense abdominal distension shortly after birth.

Recurrent severe anemia associated with a jejunal arteriovenous malformation in pregnancy: A case report.

Background: Small intestinal arteriovenous (AV) malformations may cause gastrointestinal hemorrhage, occasionally leading to anemia; however, they are rarely seen in pregnancy. This report presents a case of a pregnant woman who had recurrent severe anemia that was attributed to a small hemorrhagic intestinal arteriovenous malformation.

Case Presentation: A 24-year-old pregnant woman (gravida 2, para 1) presented with a low hemoglobin concentration (3.

Managing a case of Breus' mole with severe fetal growth restriction via sequential ultrasonographic imaging and MRI.

A Breus' mole is a massive subchorionic thrombohematoma that arises below the chorionic plate on the fetal side of the placenta. It requires careful perinatal management because of the associated high incidence of severe fetal growth restriction and intrauterine fetal demise. However, the mechanism of its development remains unclear, and there are no reports examining the continuous changes in the hematomas.

Activities of the Japan Council for Implementation of the Maternal Emergency Life Support System reduced direct causes of maternal deaths in Japan.

Here, we aimed to provide an overview of Japan Council for the Implementation of the Maternal Emergency Life-Saving System (J-CIMELS) and its simulation program, which has reduced maternal mortality due to direct causes in Japan. The Japan Association of Obstetricians and Gynecologists (JAOG), Japan Association of Obstetricians and Gynecologists, and Maternal Death Exploratory Committee (JMDEC) launched the Maternal Death Reporting Project in 2010. The project analyzed obstetricians' tendency to delay their initial response to sudden maternal deterioration.

Sperm and Oocyte Chromosomal Abnormalities.

Gametogenesis, the process of producing gametes, differs significantly between oocytes and sperm. Most oocytes have chromosomal aneuploidies, indicating that chromosomal aberrations in miscarried and newborn infants are of oocyte origin. Conversely, most structural anomalies are of sperm origin.

COVID-19 mRNA vaccination status and concerns among pregnant women in Japan: a multicenter questionnaire survey.

Background: mRNA vaccination is an effective, safe, and widespread strategy for protecting pregnant women against infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. However, information on factors such as perinatal outcomes, safety, and coverage of mRNA vaccinations among pregnant women is limited in Japan. Therefore, this study aimed to investigate the perinatal outcomes, coverage, adverse effects, and short-term safety of mRNA vaccination as well as vaccine hesitancy among pregnant women.

Comprehensive quantitative analyses of fetal magnetic resonance imaging in isolated cerebral ventriculomegaly.

Isolated cerebral ventriculomegaly (IVM) is the most common prenatally diagnosed brain anomaly occurs in 0.2-1 % of pregnancies. However, knowledge of fetal brain development in IVM is limited.

Novel missense COL2A1 variant in a fetus with achondrogenesis type II.

Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14 weeks of gestation. We performed postnatal genetic analysis of the parents and fetus to diagnose the disease.

Molecular Mechanisms Underlying Twin-to-Twin Transfusion Syndrome.

Twin-to-twin transfusion syndrome is a unique disease and a serious complication occurring in 10-15% of monochorionic multiple pregnancies with various placental complications, including hypoxia, anemia, increased oxidative stress, and ischemia-reperfusion injury. Fetoscopic laser photocoagulation, a minimally invasive surgical procedure, seals the placental vascular anastomoses between twins and dramatically improves the survival rates in twin-to-twin transfusion syndrome. However, fetal demise still occurs, suggesting the presence of causes other than placental vascular anastomoses.

Pregnancy Outcome and Postnatal Chromosome Analysis of the Cord Blood and Chorionic Villi in Two Cases after Intrauterine Transfer of Mosaic Aneuploid Blastocysts.

The long-term prognosis and genetic mechanism of pregnancy after intrauterine mosaic aneuploid blastocyst transfer remain unknown. We report the case of two babies after the aforementioned procedure and chromosomal analysis of their cord blood and chorionic villi. .

Clinical outcomes in pregnant women with coronavirus disease 2019 in a perinatal medical centre in Japan: a retrospective study of the first 1 year of the pandemic.

In this retrospective study, we analysed clinical and demographic data from the medical records of 31 pregnant women with coronavirus disease 2019 (COVID-19) who were treated at our hospital between April 2020 and April 2021. The most common symptom was a fever; ∼10% of patients were asymptomatic. One patient with rapidly worsening pneumonia needed a Caesarean Section at 30 weeks and was admitted for intensive care.

Perinatal management of a pregnant woman with COVID-19: A case report from Japan.

Objective: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused the coronavirus disease 2019 (COVID-19) pandemic. Owing to limited information, the impact and clinical course of COVID-19 in pregnant women and newborns remain unclear. Here, we report the clinical course of a full-term pregnant woman with COVID-19 and her newborn.

Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study.

Dandy-Walker malformation (DWM) is a common prenatally diagnosed cerebellar malformation, characterized by cystic dilatation of the fourth ventricle, upward rotation of the hypoplastic vermis, and posterior fossa enlargement with torcular elevation. DWM is associated with a broad spectrum of neurodevelopmental abnormalities such as cognitive, motor, and behavioral impairments, which cannot be explained solely by cerebellar malformations. Notably, the pathogenesis of these symptoms remains poorly understood.

Prevalence of common aneuploidy in twin pregnancies.

The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic (DD) and monochorionic diamniotic (MD) twins. We used data from 57 clinical facilities across Japan.

Restoration of keratinocytic phenotypes in autonomous trisomy-rescued cells.

Background: An extra copy of chromosome 21 in humans can alter cellular phenotypes as well as immune and metabolic systems. Down syndrome is associated with many health-related problems and age-related disorders including dermatological abnormalities. However, few studies have focused on the impact of trisomy 21 (T21) on epidermal stem cells and progenitor cell dysfunction.

Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.

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.

Spontaneously conceived heterotopic pregnancy with abdominal pregnancy implanted on the vesicouterine pouch: A case report and literature review.

We report the case of a 36-year-old woman with spontaneously conceived heterotopic pregnancy with abdominal pregnancy. She visited the hospital at 5 weeks and 4 days of gestation and transvaginal ultrasonography revealed a normal intrauterine pregnancy. Two days later, she was urgently transported to the hospital due to extreme abdominal pain.